id category name provided_by has_attribute has_biological_sex phenopacket.store:11q_terminal_deletion.PMID_15266616_43 biolink:Case 43 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_35 biolink:Case 35 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_32 biolink:Case 32 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_24 biolink:Case 24 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_104 biolink:Case 104 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_107 biolink:Case 107 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_96 biolink:Case 96 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_120 biolink:Case 120 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_91 biolink:Case 91 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_136 biolink:Case 136 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_3 biolink:Case 3 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_151 biolink:Case 151 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_128 biolink:Case 128 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_4 biolink:Case 4 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_102 biolink:Case 102 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_138 biolink:Case 138 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_112 biolink:Case 112 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_131 biolink:Case 131 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_7 biolink:Case 7 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_117 biolink:Case 117 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_25 biolink:Case 25 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_147 biolink:Case 147 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_118 biolink:Case 118 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_19 biolink:Case 19 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_139 biolink:Case 139 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_97 biolink:Case 97 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_154 biolink:Case 154 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_18 biolink:Case 18 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_129 biolink:Case 129 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_95 biolink:Case 95 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_153 biolink:Case 153 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_126 biolink:Case 126 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_100 biolink:Case 100 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_110 biolink:Case 110 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_114 biolink:Case 114 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_84 biolink:Case 84 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_141 biolink:Case 141 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_21 biolink:Case 21 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_83 biolink:Case 83 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_77 biolink:Case 77 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_80 biolink:Case 80 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_108 biolink:Case 108 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_93 biolink:Case 93 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_119 biolink:Case 119 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_101 biolink:Case 101 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_130 biolink:Case 130 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_105 biolink:Case 105 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_82 biolink:Case 82 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_98 biolink:Case 98 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_17 biolink:Case 17 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_34 biolink:Case 34 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_116 biolink:Case 116 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_113 biolink:Case 113 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_45 biolink:Case 45 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_81 biolink:Case 81 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_127 biolink:Case 127 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_140 biolink:Case 140 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_152 biolink:Case 152 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_106 biolink:Case 106 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_9 biolink:Case 9 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_94 biolink:Case 94 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_137 biolink:Case 137 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_150 biolink:Case 150 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_5 biolink:Case 5 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_103 biolink:Case 103 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_122 biolink:Case 122 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_142 biolink:Case 142 FEMALE phenopacket.store:11q_terminal_deletion.PMID_15266616_146 biolink:Case 146 MALE phenopacket.store:11q_terminal_deletion.PMID_15266616_148 biolink:Case 148 FEMALE phenopacket.store:AAGAB.PMID_28239884_Family_2_proband biolink:Case Family 2 proband FEMALE phenopacket.store:AAGAB.PMID_28239884_Family_1_proband biolink:Case Family 1 proband FEMALE phenopacket.store:AAGAB.PMID_28239884_Family_3_proband biolink:Case Family 3 proband FEMALE phenopacket.store:ABCA4.PMID_10874631_II.2 biolink:Case II.2 FEMALE phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.2 biolink:Case PATIENT II.2 MALE phenopacket.store:ABCB7.PMID_4045952_IV.12 biolink:Case IV.12 MALE phenopacket.store:ABCB7.PMID_4045952_IV.5 biolink:Case IV.5 MALE phenopacket.store:ABCB7.PMID_34354969_P18 biolink:Case P18 MALE phenopacket.store:ABCB7.PMID_26242992_IV-40 biolink:Case IV-40 MALE phenopacket.store:ABCB7.PMID_26242992_III-18 biolink:Case III-18 MALE phenopacket.store:ABCB7.PMID_26242992_III-6 biolink:Case III-6 MALE phenopacket.store:ABCB7.PMID_11050011_II-2 biolink:Case II-2 MALE phenopacket.store:ABCB7.PMID_4045952_IV.13 biolink:Case IV.13 MALE phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.3 biolink:Case PATIENT III.3 MALE phenopacket.store:ABCB7.PMID_26242992_III-17 biolink:Case III-17 MALE phenopacket.store:ABCB7.PMID_11118249_PATIENT_II.1 biolink:Case PATIENT II.1 MALE phenopacket.store:ABCB7.PMID_26242992_III-30 biolink:Case III-30 MALE phenopacket.store:ABCB7.PMID_26242992_IV-26 biolink:Case IV-26 MALE phenopacket.store:ABCB7.PMID_11050011_II-1 biolink:Case II-1 MALE phenopacket.store:ABCB7.PMID_11118249_PATIENT_III.2 biolink:Case PATIENT III.2 MALE phenopacket.store:ABCB7.PMID_22398176_proband biolink:Case proband MALE phenopacket.store:ABCB7.PMID_4045952_III.1 biolink:Case III.1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_4_Subject_1 biolink:Case Family 4 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_2 biolink:Case Family 5 Subject 2 MALE phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_1 biolink:Case Family 8 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_1 biolink:Case Family 20 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_2 biolink:Case Family 10 Subject 2 MALE phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_1 biolink:Case Family 7 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_2 biolink:Case Family 26 Subject 2 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_2 biolink:Case Family 22 Subject 2 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_1 biolink:Case Family 3 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_1 biolink:Case Family 28 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_2 biolink:Case Family 1 Subject 2 MALE phenopacket.store:ACBD6.PMID_37951597_Family_16_Subject_1 biolink:Case Family 16 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_5_Subject_1 biolink:Case Family 5 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_18_Subject_1 biolink:Case Family 18 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_20_Subject_2 biolink:Case Family 20 Subject 2 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_1 biolink:Case Family 27 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_10_Subject_1 biolink:Case Family 10 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_3 biolink:Case Family 1 Subject 3 MALE phenopacket.store:ACBD6.PMID_37951597_Family_27_Subject_2 biolink:Case Family 27 Subject 2 MALE phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_2 biolink:Case Family 19 Subject 2 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_2 biolink:Case Family 6 Subject 2 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_2 biolink:Case Family 23 Subject 2 MALE phenopacket.store:ACBD6.PMID_37951597_Family_24_Subject_1 biolink:Case Family 24 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_2 biolink:Case Family 12 Subject 2 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_7_Subject_2 biolink:Case Family 7 Subject 2 MALE phenopacket.store:ACBD6.PMID_37951597_Family_12_Subject_1 biolink:Case Family 12 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_22_Subject_1 biolink:Case Family 22 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_26_Subject_1 biolink:Case Family 26 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_1_Subject_1 biolink:Case Family 1 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_15_Subject_1 biolink:Case Family 15 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_2 biolink:Case Family 17 Subject 2 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_25_Subject_1 biolink:Case Family 25 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_9_Subject_1 biolink:Case Family 9 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_28_Subject_2 biolink:Case Family 28 Subject 2 MALE phenopacket.store:ACBD6.PMID_37951597_Family_21_Subject_1 biolink:Case Family 21 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_14_Subject_1 biolink:Case Family 14 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_2_Subject_1 biolink:Case Family 2 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_17_Subject_1 biolink:Case Family 17 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_11_Subject_1 biolink:Case Family 11 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_19_Subject_1 biolink:Case Family 19 Subject 1 FEMALE phenopacket.store:ACBD6.PMID_37951597_Family_3_Subject_2 biolink:Case Family 3 Subject 2 MALE phenopacket.store:ACBD6.PMID_37951597_Family_23_Subject_1 biolink:Case Family 23 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_13_Subject_1 biolink:Case Family 13 Subject 1 MALE phenopacket.store:ACBD6.PMID_37951597_Family_8_Subject_2 biolink:Case Family 8 Subject 2 MALE phenopacket.store:ACBD6.PMID_37951597_Family_6_Subject_1 biolink:Case Family 6 Subject 1 MALE phenopacket.store:ACP4.PMID_28513613_family_2 biolink:Case family 2 phenopacket.store:ACP4.PMID_28513613_family_1 biolink:Case family 1 phenopacket.store:ACTA1.PMID_30517146_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:ACTB.PMID_30315159_Patient_N_ biolink:Case Patient N FEMALE phenopacket.store:ACTB.PMID_30315159_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:ACTB.PMID_30315159_Patient_6_ biolink:Case Patient 6 FEMALE phenopacket.store:ACTB.PMID_30315159_Patient_2_(Father_of_Patient_1)_ biolink:Case Patient 2 (Father of Patient 1) MALE phenopacket.store:ACTB.PMID_30733661_4-year-old_girl biolink:Case 4-year-old girl FEMALE phenopacket.store:ACTB.PMID_30315159_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:ACTB.PMID_30315159_Patient_4_(Mother_of_Patient_3)_ biolink:Case Patient 4 (Mother of Patient 3) FEMALE phenopacket.store:ACTB.PMID_30315159_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:ACTN1.PMID_24069336_proband_V_02 biolink:Case proband V-02 FEMALE phenopacket.store:ACVR1.PMID_29482508_current_case biolink:Case current case MALE phenopacket.store:ADA.PMID_1680289_patient biolink:Case patient MALE phenopacket.store:ADA.PMID_28823388_3_month_old_girl biolink:Case 3-month-old girl FEMALE phenopacket.store:ADA2.PMID_28830446_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:ADA2.PMID_28830446_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:ADAMTS10.PMID_25469541_patient biolink:Case patient FEMALE phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_2_(II-4) biolink:Case Family A Individual 2 (II-4) MALE phenopacket.store:ADAMTS15.PMID_35962790_Family_B_Individual_3_(II-6) biolink:Case Family B Individual 3 (II-6) FEMALE phenopacket.store:ADAMTS15.PMID_35962790_Family_C_Individual_4_(II-1) biolink:Case Family C Individual 4 (II-1) MALE phenopacket.store:ADAMTS15.PMID_35962790_Family_D_Individual_5_(II-2) biolink:Case Family D Individual 5 (II-2) MALE phenopacket.store:ADAMTS15.PMID_35962790_Family_A_Individual_1_(II-1) biolink:Case Family A Individual 1 (II-1) MALE phenopacket.store:ADAMTSL2.PMID_27057656_patient biolink:Case patient MALE phenopacket.store:ADGRG1.PMID_29707406_A_II_2 biolink:Case A II-2 MALE phenopacket.store:ADGRG1.PMID_29707406_B_III_6 biolink:Case B III-6 FEMALE phenopacket.store:ADGRG1.PMID_29707406_C_II_5 biolink:Case C II-5 MALE phenopacket.store:ADGRG1.PMID_29707406_C_II_6 biolink:Case C II-6 FEMALE phenopacket.store:ADGRG1.PMID_29707406_A_II_3 biolink:Case A II-3 MALE phenopacket.store:ADGRG1.PMID_29707406_C_II_4 biolink:Case C II-4 FEMALE phenopacket.store:ADGRG1.PMID_29707406_B_III_2 biolink:Case B III-2 FEMALE phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_2 biolink:Case FPLD 122.2 FEMALE phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_3 biolink:Case FPLD 122.3 MALE phenopacket.store:ADRA2A.PMID_27376152_FPLD_122_8 biolink:Case FPLD 122.8 MALE phenopacket.store:AEBP1.PMID_29606302_B_II_1 biolink:Case B-II-1 MALE phenopacket.store:AEBP1.PMID_29606302_C_IV_6 biolink:Case C-IV:6 FEMALE phenopacket.store:AEBP1.PMID_29606302_A_II_1 biolink:Case A-II:1 MALE phenopacket.store:AEBP1.PMID_30759870_LOVD_ID_AN_006205 biolink:Case LOVD ID AN_006205 FEMALE phenopacket.store:AEBP1.PMID_29606302_C_IV_4 biolink:Case C-IV:4 MALE phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_4 biolink:Case Kinship 2 Patient 4 FEMALE phenopacket.store:AGRN.PMID_24951643_Kinship_2_Patient_3 biolink:Case Kinship 2 Patient 3 MALE phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_2 biolink:Case Kinship 1 Patient 2 MALE phenopacket.store:AGRN.PMID_24951643_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:AGRN.PMID_24951643_Kinship_1_Patient_1 biolink:Case Kinship 1 Patient 1 FEMALE phenopacket.store:AHDC1.PMID_27148574_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:AHDC1.PMID_34229113_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:AHDC1.PMID_30622101_patient biolink:Case patient MALE phenopacket.store:AHDC1.PMID_34229113_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:AHDC1.PMID_27148574_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:AHDC1.PMID_24791903_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:AHDC1.PMID_32256298_Case_Report biolink:Case Case Report MALE phenopacket.store:AHDC1.PMID_35716097_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:AHDC1.PMID_30152016_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:AHDC1.PMID_30152016_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:AHDC1.PMID_38357260_Case_Report biolink:Case Case Report FEMALE phenopacket.store:AHDC1.PMID_30729726_Case_1 biolink:Case Case 1 MALE phenopacket.store:AHDC1.PMID_29696776_Patient_19 biolink:Case Patient 19 MALE phenopacket.store:AHDC1.PMID_29696776_Patient_14 biolink:Case Patient 14 MALE phenopacket.store:AHDC1.PMID_30152016_Case_5 biolink:Case Case 5 FEMALE phenopacket.store:AHDC1.PMID_27148574_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:AHDC1.PMID_34229113_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:AHDC1.PMID_38357260_Case_Presentation biolink:Case Case Presentation FEMALE phenopacket.store:AHDC1.PMID_30152016_Case_4 biolink:Case Case 4 MALE phenopacket.store:AHDC1.PMID_34950897_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:AHDC1.PMID_31182893_patient biolink:Case patient FEMALE phenopacket.store:AHDC1.PMID_24791903_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:AHDC1.PMID_24791903_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:AHDC1.PMID_27148574_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:AHDC1.PMID_29696776_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:AHDC1.PMID_30152016_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:AHDC1.PMID_34950897_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:AHDC1.PMID_29696776_Patient_8 biolink:Case Patient 8 FEMALE phenopacket.store:AHDC1.PMID_29696776_Patient_15 biolink:Case Patient 15 FEMALE phenopacket.store:AHDC1.PMID_36157999_patient biolink:Case patient FEMALE phenopacket.store:AHDC1.PMID_34073322_Female_patient biolink:Case Female patient FEMALE phenopacket.store:AHDC1.PMID_35716097_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:AHDC1.PMID_34950897_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:AHDC1.PMID_27148574_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:AHDC1.PMID_30152016_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:AHDC1.PMID_30729726_Case_2 biolink:Case Case 2 MALE phenopacket.store:AHDC1.PMID_24791903_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:AHDC1.PMID_29696776_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:AHDC1.PMID_29696776_Patient_12 biolink:Case Patient 12 FEMALE phenopacket.store:AHDC1.PMID_29696776_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:AHDC1.PMID_29696776_Patient_17 biolink:Case Patient 17 FEMALE phenopacket.store:AHDC1.PMID_34950897_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:AHDC1.PMID_34229113_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:AHDC1.PMID_29230160_case_report biolink:Case case report FEMALE phenopacket.store:AHDC1.PMID_34950897_Patient_10 biolink:Case Patient 10 FEMALE phenopacket.store:AHDC1.PMID_27148574_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:AHDC1.PMID_34950897_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:AHDC1.PMID_29696776_Patient_20 biolink:Case Patient 20 MALE phenopacket.store:AHDC1.PMID_29696776_Patient_13 biolink:Case Patient 13 FEMALE phenopacket.store:AHDC1.PMID_34950897_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:AHDC1.PMID_29696776_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:AHDC1.PMID_33372375_clinical_report biolink:Case clinical report MALE phenopacket.store:AHDC1.PMID_35716097_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:AHDC1.PMID_39359946_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:AHDC1.PMID_27148574_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:AHDC1.PMID_35716097_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:AHDC1.PMID_34950897_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:AHDC1.PMID_30152016_Case_2 biolink:Case Case 2 MALE phenopacket.store:AHDC1.PMID_39359946_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:AHDC1.PMID_30152016_Case_3 biolink:Case Case 3 MALE phenopacket.store:AHDC1.PMID_29696776_Patient_11 biolink:Case Patient 11 FEMALE phenopacket.store:AHDC1.PMID_30152016_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:AHDC1.PMID_29696776_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:AHDC1.PMID_30152016_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:AHDC1.PMID_35716097_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:AIRE.PMID_19758376_Family_4_individual_II_1 biolink:Case Family 4 individual II-1 MALE phenopacket.store:AIRE.PMID_16965330_patient_5 biolink:Case patient 5 FEMALE phenopacket.store:AIRE.PMID_22024611_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:AIRE.PMID_18616706_Case_1 biolink:Case Case 1 MALE phenopacket.store:AIRE.PMID_19807739_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_11 biolink:Case Sibling of patient 11 FEMALE phenopacket.store:AIRE.PMID_19758376_Family_3_individual_II_5 biolink:Case Family 3 individual II-5 FEMALE phenopacket.store:AIRE.PMID_19807739_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:AIRE.PMID_16965330_patient_10 biolink:Case patient 10 FEMALE phenopacket.store:AIRE.PMID_19758376_Family_5_individual_II_1 biolink:Case Family 5 individual II-1 FEMALE phenopacket.store:AIRE.PMID_16965330_patient_8 biolink:Case patient 8 FEMALE phenopacket.store:AIRE.PMID_19807739_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:AIRE.PMID_16965330_patient_9 biolink:Case patient 9 MALE phenopacket.store:AIRE.PMID_18616706_Case_7 biolink:Case Case 7 FEMALE phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_13 biolink:Case Family 1 individual III-13 FEMALE phenopacket.store:AIRE.PMID_16965330_Sibling_of_patient_7 biolink:Case Sibling of patient 7 MALE phenopacket.store:AIRE.PMID_19807739_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:AIRE.PMID_22024611_Case_3 biolink:Case Case 3 MALE phenopacket.store:AIRE.PMID_16965330_patient_11 biolink:Case patient 11 FEMALE phenopacket.store:AIRE.PMID_18616706_Case_6 biolink:Case Case 6 FEMALE phenopacket.store:AIRE.PMID_19807739_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:AIRE.PMID_18616706_Case_21 biolink:Case Case 21 MALE phenopacket.store:AIRE.PMID_16965330_patient_4 biolink:Case patient 4 FEMALE phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_2 biolink:Case Family 2 individual V-2 MALE phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_5 biolink:Case Family 2 individual V-5 MALE phenopacket.store:AIRE.PMID_18616706_Case_3 biolink:Case Case 3 MALE phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_1 biolink:Case Family 1 individual IV-1 MALE phenopacket.store:AIRE.PMID_19807739_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:AIRE.PMID_16965330_patient_12 biolink:Case patient 12 FEMALE phenopacket.store:AIRE.PMID_18616706_Case_13 biolink:Case Case 13 FEMALE phenopacket.store:AIRE.PMID_19807739_Patient_8 biolink:Case Patient 8 FEMALE phenopacket.store:AIRE.PMID_19758376_Family_1_individual_III_9 biolink:Case Family 1 individual III-9 FEMALE phenopacket.store:AIRE.PMID_22024611_Case_4 biolink:Case Case 4 FEMALE phenopacket.store:AIRE.PMID_18616706_Case_17 biolink:Case Case 17 MALE phenopacket.store:AIRE.PMID_22024611_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:AIRE.PMID_18616706_Case_22 biolink:Case Case 22 FEMALE phenopacket.store:AIRE.PMID_16965330_patient_2 biolink:Case patient 2 MALE phenopacket.store:AIRE.PMID_28540407_index_case biolink:Case index case MALE phenopacket.store:AIRE.PMID_16965330_patient_3 biolink:Case patient 3 FEMALE phenopacket.store:AIRE.PMID_18616706_Case_19 biolink:Case Case 19 MALE phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_4 biolink:Case Family 2 individual V-4 FEMALE phenopacket.store:AIRE.PMID_18616706_Case_4 biolink:Case Case 4 MALE phenopacket.store:AIRE.PMID_18616706_Case_23 biolink:Case Case 23 MALE phenopacket.store:AIRE.PMID_16965330_patient_13 biolink:Case patient 13 MALE phenopacket.store:AIRE.PMID_16965330_patient_7 biolink:Case patient 7 FEMALE phenopacket.store:AIRE.PMID_19758376_Family_1_individual_IV_9 biolink:Case Family 1 individual IV-9 MALE phenopacket.store:AIRE.PMID_18616706_Case_18 biolink:Case Case 18 MALE phenopacket.store:AIRE.PMID_16965330_patient_1 biolink:Case patient 1 MALE phenopacket.store:AIRE.PMID_19758376_Family_6_individual_II_1 biolink:Case Family 6 individual II-1 FEMALE phenopacket.store:AIRE.PMID_18616706_Case_15 biolink:Case Case 15 MALE phenopacket.store:AIRE.PMID_18616706_Case_20 biolink:Case Case 20 MALE phenopacket.store:AIRE.PMID_16965330_patient_14 biolink:Case patient 14 FEMALE phenopacket.store:AIRE.PMID_16965330_patient_6 biolink:Case patient 6 FEMALE phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_11 biolink:Case Family 2 individual V-11 MALE phenopacket.store:AIRE.PMID_19807739_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:AIRE.PMID_19758376_Family_2_individual_V_3 biolink:Case Family 2 individual V-3 MALE phenopacket.store:AIRE.PMID_19807739_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:AIRE.PMID_18616706_Case_24 biolink:Case Case 24 MALE phenopacket.store:ALG9.PMID_15148656_female_patient biolink:Case female patient FEMALE phenopacket.store:ALG9.PMID_26453364_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:ALG9.PMID_15945070_7-month-old_girl biolink:Case 7-month-old girl FEMALE phenopacket.store:ALG9.PMID_26453364_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:ALG9.PMID_26453364_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:ALG9.PMID_26453364_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:AMN.PMID_26040326_eldest_sister_III_1 biolink:Case eldest sister III:1 FEMALE phenopacket.store:AMN.PMID_26040326_younger_sister_III_2 biolink:Case younger sister III:2 FEMALE phenopacket.store:AMT.PMID_33791923_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:AMT.PMID_8005589_patient_B biolink:Case patient B FEMALE phenopacket.store:AMT.PMID_8005589_patient_A biolink:Case patient A FEMALE phenopacket.store:AMT.PMID_9600239_propositus_VII_7 biolink:Case propositus VII-7 MALE phenopacket.store:AMT.PMID_33791923_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:ANKH.PMID_22150416_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:ANKH.PMID_20186813_6_year_old_male biolink:Case 6-year-old male MALE phenopacket.store:ANKH.PMID_22647861_41_year_old_woman biolink:Case 41-year-old woman FEMALE phenopacket.store:ANKH.PMID_20358596_Patient_A biolink:Case Patient A MALE phenopacket.store:ANKH.PMID_20358596_Patient_B biolink:Case Patient B MALE phenopacket.store:ANKH.PMID_22150416_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:ANKH.PMID_20358596_Patient_C biolink:Case Patient C MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P4_5 biolink:Case Low, 2016_P4 (5) FEMALE phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P12 biolink:Case VanDongen2019_P12 MALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P3_1_3 biolink:Case Murray, 2017_P3 (1.3) MALE phenopacket.store:ANKRD11.PMID_36446582_KBG14 biolink:Case KBG14 MALE phenopacket.store:ANKRD11.PMID_36446582_Spengler_2013 biolink:Case Spengler, 2013 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG10A biolink:Case KBG10A MALE phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P5 biolink:Case Sirmaci2011_P5 MALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P1_1_1 biolink:Case Murray, 2017_P1 (1.1) MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P6_7 biolink:Case Low, 2016_P6 (7) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P13 biolink:Case Kutkowska-Kazmierczak2021_P13 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P38 biolink:Case Goldenberg2016_P38 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P12_13 biolink:Case Low, 2016_P12 (13) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P7 biolink:Case Scarano, 2013_P7 MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P5 biolink:Case Gnazzo, 2020_P5 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P9 biolink:Case Goldenberg2016_P9 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P14 biolink:Case Ockeloen2015_P14 MALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P1 biolink:Case Scarano, 2013_P1 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P12 biolink:Case Parenti2021_P12 MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P20 biolink:Case Kutkowska-Kazmierczak2021_P20 phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P1 biolink:Case VanDongen2019_P1 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG44 biolink:Case KBG44 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P26 biolink:Case Goldenberg2016_P26 MALE phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P4 biolink:Case VanDongen2019_P4 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P21 biolink:Case Parenti2021_P21 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG55 biolink:Case KBG55 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P39 biolink:Case Goldenberg2016_P39 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P8 biolink:Case Ockeloen2015_P8 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P19 biolink:Case Parenti2021_P19 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kleyner_2016 biolink:Case Kleyner, 2016 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P8_33 biolink:Case Low, 2016_P8 (33) MALE phenopacket.store:ANKRD11.PMID_36446582_KBG57 biolink:Case KBG57 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG38 biolink:Case KBG38 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P8 biolink:Case Kutkowska-Kazmierczak2021_P8 MALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P6_3_2 biolink:Case Murray, 2017_P6 (3.2) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P15 biolink:Case Parenti2021_P15 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P1 biolink:Case Parenti2016_P1 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG8B biolink:Case KBG8B FEMALE phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P9 biolink:Case VanDongen2019_P9 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P2 biolink:Case Miyatake, 2017_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P7_3_3 biolink:Case Murray, 2017_P7 (3.3) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P12 biolink:Case Ockeloen2015_P12 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P18 biolink:Case Goldenberg2016_P18 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG47 biolink:Case KBG47 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P1_19 biolink:Case Low, 2016_P1 (19) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P2 biolink:Case Kutkowska-Kazmierczak2021_P2 phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P9 biolink:Case Kutkowska-Kazmierczak2021_P9 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P17_10 biolink:Case Low, 2016_P17 (10) FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG53 biolink:Case KBG53 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P21 biolink:Case Gnazzo, 2020_P21 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P28 biolink:Case Gnazzo, 2020_P28 MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P30 biolink:Case Gnazzo, 2020_P30 MALE phenopacket.store:ANKRD11.PMID_36446582_Cucco_2020_Patient_B biolink:Case Cucco, 2020 (Patient B) MALE phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P2 biolink:Case Isrie, 2012_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P8 biolink:Case Scarano, 2013_P8 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P5 biolink:Case Scarano, 2013_P5 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG28 biolink:Case KBG28 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P1 biolink:Case Ockeloen2015_P1 MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P2 biolink:Case Gnazzo, 2020_P2 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P1 biolink:Case Kim, 2015_P1 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG51 biolink:Case KBG51 MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P17 biolink:Case Kutkowska-Kazmierczak2021_P17 phenopacket.store:ANKRD11.PMID_36446582_DeBernardi2018 biolink:Case DeBernardi2018 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P35 biolink:Case Goldenberg2016_P35 MALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P8 biolink:Case Novara, 2017_P8 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P13 biolink:Case Ockeloen2015_P13 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P4_previously_published_Brancati_2004 biolink:Case Sirmaci2011_P4 (previously published Brancati, 2004) MALE phenopacket.store:ANKRD11.PMID_36446582_KBG33 biolink:Case KBG33 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P20 biolink:Case Goldenberg2016_P20 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P13_27 biolink:Case Low, 2016_P13 (27) MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P3 biolink:Case Kutkowska-Kazmierczak2021_P3 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P16 biolink:Case Gnazzo, 2020_P16 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P2 biolink:Case Jin Kim, 2020_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PE biolink:Case Walz2015_PE MALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P4_2_1 biolink:Case Murray, 2017_P4 (2.1) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Youngs2011 biolink:Case Youngs2011 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P11 biolink:Case Goldenberg2016_P11 FEMALE phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P5 biolink:Case VanDongen2019_P5 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P31 biolink:Case Goldenberg2016_P31 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PD biolink:Case Walz2015_PD MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P17 biolink:Case Goldenberg2016_P17 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P11 biolink:Case Novara, 2017_P11 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P10_7_1 biolink:Case Murray, 2017_P10 (7.1.) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P23_17 biolink:Case Low, 2016_P23 (17) MALE phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3_F1__previously_published_Tekin_2004 biolink:Case Sirmaci2011_P3/F1? (previously published Tekin, 2004) MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P30 biolink:Case Goldenberg2016_P30 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P5 biolink:Case Kutkowska-Kazmierczak2021_P5 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P1 biolink:Case Parenti2021_P1 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P3 biolink:Case Parenti2021_P3 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P12 biolink:Case Kutkowska-Kazmierczak2021_P12 phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P16 biolink:Case Goldenberg2016_P16 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P4 biolink:Case Willemsen2010_P4 MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P23 biolink:Case Gnazzo, 2020_P23 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG48 biolink:Case KBG48 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P8 biolink:Case Parenti2021_P8 MALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P2 biolink:Case Scarano, 2013_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2 biolink:Case Sirmaci2011_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P4 biolink:Case Kutkowska-Kazmierczak2021_P4 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Rentas2021_P1 biolink:Case Rentas2021_P1 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P3 biolink:Case Miyatake, 2017_P3 MALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P12 biolink:Case Novara, 2017_P12 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P10_18 biolink:Case Low, 2016_P10 (18) MALE phenopacket.store:ANKRD11.PMID_36446582_KBG64 biolink:Case KBG64 MALE phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P3 biolink:Case Sirmaci2011_P3 MALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P11_8_1 biolink:Case Murray, 2017_P11 (8.1.) FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG5 biolink:Case KBG5 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P22_16 biolink:Case Low, 2016_P22 (16) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P11 biolink:Case Parenti2021_P11 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG11 biolink:Case KBG11 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P12 biolink:Case Gnazzo, 2020_P12 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P1 biolink:Case Sacharow, 2012_P1 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG18 biolink:Case KBG18 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P5 biolink:Case Goldenberg2016_P5 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG42 biolink:Case KBG42 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG26 biolink:Case KBG26 MALE phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P3 biolink:Case Willemsen2010_P3 MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P20 biolink:Case Gnazzo, 2020_P20 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P26_23 biolink:Case Low, 2016_P26 (23) MALE phenopacket.store:ANKRD11.PMID_36446582_Libianto2019 biolink:Case Libianto2019 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG3 biolink:Case KBG3 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P13 biolink:Case Goldenberg2016_P13 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG35 biolink:Case KBG35 MALE phenopacket.store:ANKRD11.PMID_36446582_Sacharow_2012_P2 biolink:Case Sacharow, 2012_P2 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_33_31 biolink:Case Low, 2016_33 (31) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P21_15 biolink:Case Low, 2016_P21 (15) MALE phenopacket.store:ANKRD11.PMID_36446582_KBG58 biolink:Case KBG58 MALE phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1A biolink:Case Khalifa, 2013_P1A MALE phenopacket.store:ANKRD11.PMID_36446582_Palumbo_2016 biolink:Case Palumbo 2016 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P15 biolink:Case Goldenberg2016_P15 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P3 biolink:Case Goldenberg2016_P3 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P16 biolink:Case Kutkowska-Kazmierczak2021_P16 phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P5_3_1 biolink:Case Murray, 2017_P5 (3.1) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P5 biolink:Case Novara, 2017_P5 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P16_9 biolink:Case Low, 2016_P16 (9) MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P1 biolink:Case Gnazzo, 2020_P1 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG39 biolink:Case KBG39 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG54 biolink:Case KBG54 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_32_30 biolink:Case Low, 2016_32 (30) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P22 biolink:Case Goldenberg2016_P22 MALE phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PC biolink:Case Walz2015_PC MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P25 biolink:Case Gnazzo, 2020_P25 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P15_3 biolink:Case Low, 2016_P15 (3) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P14 biolink:Case Kutkowska-Kazmierczak2021_P14 phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P18 biolink:Case Gnazzo, 2020_P18 MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P15 biolink:Case Kutkowska-Kazmierczak2021_P15 phenopacket.store:ANKRD11.PMID_36446582_Low_2016_31_29 biolink:Case Low, 2016_31 (29) MALE phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P2_F1__previously_published_Tekin_2004 biolink:Case Sirmaci2011_P2/F1? (previously published Tekin, 2004) MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P24 biolink:Case Gnazzo, 2020_P24 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P2 biolink:Case Parenti2021_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P20_14 biolink:Case Low, 2016_P20 (14) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P2 biolink:Case Ockeloen2015_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P13 biolink:Case Parenti2021_P13 MALE phenopacket.store:ANKRD11.PMID_36446582_Bucerzan2020 biolink:Case Bucerzan2020 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG4 biolink:Case KBG4 FEMALE phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P8 biolink:Case VanDongen2019_P8 MALE phenopacket.store:ANKRD11.PMID_36446582_Jin_Kim_2020_P1 biolink:Case Jin Kim, 2020_P1 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG29 biolink:Case KBG29 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG45 biolink:Case KBG45 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P29 biolink:Case Goldenberg2016_P29 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P26 biolink:Case Gnazzo, 2020_P26 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P29_27 biolink:Case Low, 2016_P29 (27) MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P24 biolink:Case Goldenberg2016_P24 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P6 biolink:Case Goldenberg2016_P6 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P2 biolink:Case Kim, 2015_P2 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P10 biolink:Case Scarano, 2013_P10 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG32 biolink:Case KBG32 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P12 biolink:Case Goldenberg2016_P12 MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P6 biolink:Case Kutkowska-Kazmierczak2021_P6 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG25 biolink:Case KBG25 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG12 biolink:Case KBG12 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG2 biolink:Case KBG2 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG62 biolink:Case KBG62 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG15 biolink:Case KBG15 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P9 biolink:Case Ockeloen2015_P9 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P15 biolink:Case Ockeloen2015_P15 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Walz2015_Pf biolink:Case Walz2015_Pf MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P8 biolink:Case Goldenberg2016_P8 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG41 biolink:Case KBG41 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P22 biolink:Case Parenti2021_P22 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P2 biolink:Case Willemsen2010_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P28 biolink:Case Goldenberg2016_P28 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_30_28 biolink:Case Low, 2016_30 (28) FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG20 biolink:Case KBG20 MALE phenopacket.store:ANKRD11.PMID_36446582_Khalifa_2013_P1B biolink:Case Khalifa, 2013_P1B FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P14_2 biolink:Case Low, 2016_P14 (2) MALE phenopacket.store:ANKRD11.PMID_36446582_Isrie_2012_P1 biolink:Case Isrie, 2012_P1 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P7 biolink:Case Novara, 2017_P7 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P4 biolink:Case Goldenberg2016_P4 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG6 biolink:Case KBG6 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG59 biolink:Case KBG59 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P5_6 biolink:Case Low, 2016_P5 (6) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P36 biolink:Case Goldenberg2016_P36 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P18 biolink:Case Parenti2021_P18 MALE phenopacket.store:ANKRD11.PMID_36446582_Reuter2020 biolink:Case Reuter2020 MALE phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P2 biolink:Case Crippa2015_P2 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P2_1_2 biolink:Case Murray, 2017_P2 (1.2) MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P19 biolink:Case Goldenberg2016_P19 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kim_2015_P3 biolink:Case Kim, 2015_P3 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P13 biolink:Case Gnazzo, 2020_P13 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P2 biolink:Case Goldenberg2016_P2 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P2_26 biolink:Case Low, 2016_P2 (26) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P18_12 biolink:Case Low, 2016_P18 (12) MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P9 biolink:Case Parenti2021_P9 MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P27 biolink:Case Gnazzo, 2020_P27 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG31B biolink:Case KBG31B FEMALE phenopacket.store:ANKRD11.PMID_36446582_Behnert_2018 biolink:Case Behnert, 2018 MALE phenopacket.store:ANKRD11.PMID_36446582_Lim2014 biolink:Case Lim2014 MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P7 biolink:Case Kutkowska-Kazmierczak2021_P7 phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2017_P1 biolink:Case Miyatake, 2017_P1 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P4 biolink:Case Ockeloen2015_P4 MALE phenopacket.store:ANKRD11.PMID_36446582_Mattei2021 biolink:Case Mattei2021 MALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P6 biolink:Case Scarano, 2013_P6 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG65 biolink:Case KBG65 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P27 biolink:Case Goldenberg2016_P27 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P3_4 biolink:Case Low, 2016_P3 (4) MALE phenopacket.store:ANKRD11.PMID_36446582_KBG46 biolink:Case KBG46 MALE phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PB biolink:Case Walz2015_PB MALE phenopacket.store:ANKRD11.PMID_36446582_KBG27 biolink:Case KBG27 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2016_P2 biolink:Case Parenti2016_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Low2017 biolink:Case Low2017 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P23 biolink:Case Parenti2021_P23 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P10 biolink:Case Ockeloen2015_P10 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P14 biolink:Case Goldenberg2016_P14 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P17 biolink:Case Parenti2021_P17 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P4 biolink:Case Parenti2021_P4 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Miyatake_2013 biolink:Case Miyatake, 2013 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG22 biolink:Case KBG22 FEMALE phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P7 biolink:Case VanDongen2019_P7 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P13_11_1 biolink:Case Murray, 2017_P13 (11.1) MALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P12 biolink:Case Scarano, 2013_P12 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P16 biolink:Case Parenti2021_P16 MALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P4 biolink:Case Novara, 2017_P4 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P18 biolink:Case Ockeloen2015_P18 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P2 biolink:Case Sayed, 2020_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG37 biolink:Case KBG37 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P1 biolink:Case Kutkowska-Kazmierczak2021_P1 phenopacket.store:ANKRD11.PMID_36446582_KBG31A biolink:Case KBG31A FEMALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P19 biolink:Case Ockeloen2015_P19 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P15 biolink:Case Gnazzo, 2020_P15 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Alves_2019 biolink:Case Alves, 2019 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P12_9_1 biolink:Case Murray, 2017_P12 (9.1) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P14 biolink:Case Parenti2021_P14 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P33 biolink:Case Goldenberg2016_P33 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P20 biolink:Case Parenti2021_P20 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG56 biolink:Case KBG56 MALE phenopacket.store:ANKRD11.PMID_36446582_Sayed_2020_P1 biolink:Case Sayed, 2020_P1 MALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P9 biolink:Case Scarano, 2013_P9 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P32 biolink:Case Goldenberg2016_P32 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P3 biolink:Case Ockeloen2015_P3 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG23 biolink:Case KBG23 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P17 biolink:Case Gnazzo, 2020_P17 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG63 biolink:Case KBG63 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P10 biolink:Case Goldenberg2016_P10 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG52 biolink:Case KBG52 MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P4 biolink:Case Gnazzo, 2020_P4 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG43 biolink:Case KBG43 MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P11 biolink:Case Kutkowska-Kazmierczak2021_P11 phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P3 biolink:Case Novara, 2017_P3 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_34_32 biolink:Case Low, 2016_34 (32) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P23 biolink:Case Kutkowska-Kazmierczak2021_P23 phenopacket.store:ANKRD11.PMID_36446582_KBG66 biolink:Case KBG66 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P28_25 biolink:Case Low, 2016_P28 (25) MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P6 biolink:Case Ockeloen2015_P6 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P1 biolink:Case Goldenberg2016_P1 FEMALE phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P13 biolink:Case VanDongen2019_P13 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P7 biolink:Case Ockeloen2015_P7 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG9 biolink:Case KBG9 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P8 biolink:Case Gnazzo, 2020_P8 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P9 biolink:Case Novara, 2017_P9 MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P7 biolink:Case Gnazzo, 2020_P7 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P11 biolink:Case Ockeloen2015_P11 MALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P16 biolink:Case Ockeloen2015_P16 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P7 biolink:Case Goldenberg2016_P7 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P20 biolink:Case Ockeloen2015_P20 phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P17 biolink:Case Ockeloen2015_P17 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG49 biolink:Case KBG49 MALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P10 biolink:Case Novara, 2017_P10 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P6 biolink:Case Gnazzo, 2020_P6 MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P21 biolink:Case Kutkowska-Kazmierczak2021_P21 phenopacket.store:ANKRD11.PMID_36446582_KBG1 biolink:Case KBG1 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG8A biolink:Case KBG8A FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG24 biolink:Case KBG24 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P5 biolink:Case Parenti2021_P5 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P34 biolink:Case Goldenberg2016_P34 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG34 biolink:Case KBG34 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P29 biolink:Case Gnazzo, 2020_P29 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P6 biolink:Case Parenti2021_P6 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P10 biolink:Case Gnazzo, 2020_P10 MALE phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P3 biolink:Case Crippa2015_P3 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P2 biolink:Case Novara, 2017_P2 MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P9 biolink:Case Gnazzo, 2020_P9 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P10 biolink:Case Parenti2021_P10 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P25 biolink:Case Goldenberg2016_P25 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P22 biolink:Case Kutkowska-Kazmierczak2021_P22 phenopacket.store:ANKRD11.PMID_36446582_KBG7 biolink:Case KBG7 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P11 biolink:Case Scarano, 2013_P11 MALE phenopacket.store:ANKRD11.PMID_36446582_Walz2015_PA biolink:Case Walz2015_PA FEMALE phenopacket.store:ANKRD11.PMID_36446582_Novara_2017_P1 biolink:Case Novara, 2017_P1 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG21 biolink:Case KBG21 MALE phenopacket.store:ANKRD11.PMID_36446582_Crippa2015_P1 biolink:Case Crippa2015_P1 MALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P23 biolink:Case Goldenberg2016_P23 MALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P8_4_1 biolink:Case Murray, 2017_P8 (4.1) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P27_24 biolink:Case Low, 2016_P27 (24) MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P11 biolink:Case Gnazzo, 2020_P11 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Goldenberg2016_P21 biolink:Case Goldenberg2016_P21 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Ockeloen2015_P5 biolink:Case Ockeloen2015_P5 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG10B biolink:Case KBG10B FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P22 biolink:Case Gnazzo, 2020_P22 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG36 biolink:Case KBG36 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG30 biolink:Case KBG30 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P31 biolink:Case Gnazzo, 2020_P31 FEMALE phenopacket.store:ANKRD11.PMID_36446582_VanDongen2019_P3 biolink:Case VanDongen2019_P3 FEMALE phenopacket.store:ANKRD11.PMID_36446582_KBG16 biolink:Case KBG16 MALE phenopacket.store:ANKRD11.PMID_36446582_Sirmaci2011_P1_F1__previously_published_Tekin_2004 biolink:Case Sirmaci2011_P1/F1? (previously published Tekin, 2004) MALE phenopacket.store:ANKRD11.PMID_36446582_KBG50 biolink:Case KBG50 MALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P18 biolink:Case Kutkowska-Kazmierczak2021_P18 phenopacket.store:ANKRD11.PMID_36446582_KBG17 biolink:Case KBG17 MALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P3 biolink:Case Scarano, 2013_P3 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG13 biolink:Case KBG13 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P10 biolink:Case Kutkowska-Kazmierczak2021_P10 MALE phenopacket.store:ANKRD11.PMID_36446582_Parenti2021_P7 biolink:Case Parenti2021_P7 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P25_22 biolink:Case Low, 2016_P25 (22) MALE phenopacket.store:ANKRD11.PMID_36446582_KBG40 biolink:Case KBG40 MALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P16_13_1 biolink:Case Murray, 2017_P16 (13.1) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Kutkowska_Kazmierczak2021_P19 biolink:Case Kutkowska-Kazmierczak2021_P19 phenopacket.store:ANKRD11.PMID_36446582_Bianchi_2018 biolink:Case Bianchi, 2018 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P11_20 biolink:Case Low, 2016_P11 (20) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P9_1 biolink:Case Low, 2016_P9 (1) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Srivastava_2017_P1 biolink:Case Srivastava, 2017_P1 MALE phenopacket.store:ANKRD11.PMID_36446582_KBG19 biolink:Case KBG19 MALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P24_21 biolink:Case Low, 2016_P24 (21) FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P3 biolink:Case Gnazzo, 2020_P3 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P19 biolink:Case Gnazzo, 2020_P19 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Low_2016_P7_8 biolink:Case Low, 2016_P7 (8) MALE phenopacket.store:ANKRD11.PMID_36446582_Murray_2017_P9_5_1 biolink:Case Murray, 2017_P9 (5.1.) MALE phenopacket.store:ANKRD11.PMID_36446582_Gnazzo_2020_P14 biolink:Case Gnazzo, 2020_P14 FEMALE phenopacket.store:ANKRD11.PMID_36446582_Scarano_2013_P4 biolink:Case Scarano, 2013_P4 MALE phenopacket.store:ANKRD11.PMID_36446582_Willemsen2010_P1 biolink:Case Willemsen2010_P1 MALE phenopacket.store:ANTXR1.PMID_27587992_sibling_2 biolink:Case sibling 2 MALE phenopacket.store:ANTXR1.PMID_27587992_sibling_1 biolink:Case sibling 1 MALE phenopacket.store:ANTXR2.PMID_30050362_individual_II_3 biolink:Case individual II-3 MALE phenopacket.store:APOA1.PMID_8675681_male_proband biolink:Case male proband MALE phenopacket.store:APOA1.PMID_7493166_proband biolink:Case proband MALE phenopacket.store:APOA1.PMID_10487826_proband biolink:Case proband MALE phenopacket.store:APOA1.PMID_10198255_proband_IV_17 biolink:Case proband IV:17 FEMALE phenopacket.store:APOA1.PMID_12050338_patient_16 biolink:Case patient 16 MALE phenopacket.store:APOA1.PMID_3142462_nan biolink:Case nan MALE phenopacket.store:APOA1.PMID_9916936_propositus_IV_8 biolink:Case propositus IV:8 FEMALE phenopacket.store:APOA1.PMID_10198255_proband_father biolink:Case proband father MALE phenopacket.store:APOA1.PMID_9916936_second_cousin_IV_3 biolink:Case second cousin IV:3 FEMALE phenopacket.store:APOA1.PMID_9916936_brother_of_IV_3_IV_1 biolink:Case brother of IV:3 IV:1 MALE phenopacket.store:APOLD1.PMID_35638551_Patient_PM9 biolink:Case Patient PM9 FEMALE phenopacket.store:APOLD1.PMID_35638551_Patient_PM11 biolink:Case Patient PM11 MALE phenopacket.store:APOLD1.PMID_35638551_Patient_PM4 biolink:Case Patient PM4 FEMALE phenopacket.store:APOLD1.PMID_35638551_Patient_PM6 biolink:Case Patient PM6 FEMALE phenopacket.store:APTX.PMID_28652255_V_4 biolink:Case V-4 FEMALE phenopacket.store:APTX.PMID_28652255_V_3 biolink:Case V-3 MALE phenopacket.store:APTX.PMID_28652255_V_6 biolink:Case V-6 FEMALE phenopacket.store:APTX.PMID_28652255_V_5 biolink:Case V-5 FEMALE phenopacket.store:APTX.PMID_28652255_V_8 biolink:Case V-8 MALE phenopacket.store:ARHGEF18.PMID_28132693_individual_3_GC17880 biolink:Case individual 3 GC17880 FEMALE phenopacket.store:ARHGEF18.PMID_28132693_individual_2_GC3626 biolink:Case individual 2 GC3626 MALE phenopacket.store:ARHGEF18.PMID_28132693_individual_1_GC18203 biolink:Case individual 1 GC18203 FEMALE phenopacket.store:ARMC12.PMID_35534203_R0036_II_3_P2 biolink:Case R0036/II-3 [P2] MALE phenopacket.store:ARMC12.PMID_35534203_Family_R0036_II_1 biolink:Case Family R0036/II-1 MALE phenopacket.store:ARMC12.PMID_35534203_Family_W0031_II_1_P3 biolink:Case Family W0031/II-1 [P3] MALE phenopacket.store:ARMC9.PMID_28625504_UW116_3 biolink:Case UW116-3 FEMALE phenopacket.store:ARMC9.PMID_28625504_LR09_023 biolink:Case LR09-023 MALE phenopacket.store:ARMC9.PMID_28625504_SA1_3 biolink:Case SA1-3 MALE phenopacket.store:ARMC9.PMID_28625504_UW348_3 biolink:Case UW348-3 FEMALE phenopacket.store:ARMC9.PMID_28625504_UW132_3 biolink:Case UW132-3 FEMALE phenopacket.store:ARMC9.PMID_28625504_SA2_4 biolink:Case SA2-4 MALE phenopacket.store:ARMC9.PMID_28625504_SA2_3 biolink:Case SA2-3 FEMALE phenopacket.store:ARMC9.PMID_28625504_UW132_4 biolink:Case UW132-4 MALE phenopacket.store:ARMC9.PMID_28625504_UW349_3 biolink:Case UW349-3 MALE phenopacket.store:ARMC9.PMID_28625504_UW335_4 biolink:Case UW335-4 MALE phenopacket.store:ARMC9.PMID_28625504_UW335_3 biolink:Case UW335-3 FEMALE phenopacket.store:ARPC5.PMID_37349293_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:ARPC5.PMID_37349293_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:ASAH1.PMID_31213928_patient biolink:Case patient FEMALE phenopacket.store:ASCC3.PMID_35047834_Individual_7_1_Najmabadi_et_al_2011 biolink:Case Individual 7-1 (Najmabadi et al, 2011) FEMALE phenopacket.store:ASCC3.PMID_35047834_Individual_6_1 biolink:Case Individual 6-1 MALE phenopacket.store:ASCC3.PMID_35047834_Individual_3_2 biolink:Case Individual 3-2 MALE phenopacket.store:ASCC3.PMID_35047834_Individual_7_4_Najmabadi_et_al_2011 biolink:Case Individual 7-4 (Najmabadi et al, 2011) MALE phenopacket.store:ASCC3.PMID_35047834_Individual_3_1 biolink:Case Individual 3-1 MALE phenopacket.store:ASCC3.PMID_35047834_Individual_7_3_Najmabadi_et_al_2011 biolink:Case Individual 7-3 (Najmabadi et al, 2011) MALE phenopacket.store:ASCC3.PMID_35047834_Inividual_5_1 biolink:Case Inividual 5-1 MALE phenopacket.store:ASCC3.PMID_35047834_Individual_4_1 biolink:Case Individual 4-1 FEMALE phenopacket.store:ASCC3.PMID_35047834_Individual_2_1 biolink:Case Individual 2-1 FEMALE phenopacket.store:ASCC3.PMID_35047834_Individual_1_1 biolink:Case Individual 1-1 FEMALE phenopacket.store:ASCC3.PMID_35047834_Individual_7_2_Najmabadi_et_al_2011 biolink:Case Individual 7-2 (Najmabadi et al, 2011) MALE phenopacket.store:ASPM.PMID_27250695_Family_15_patient_20 biolink:Case Family 15 patient 20 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_14_patient_19 biolink:Case Family 14 patient 19 MALE phenopacket.store:ASPM.PMID_27250695_Family_12_patient_16 biolink:Case Family 12 patient 16 MALE phenopacket.store:ASPM.PMID_27250695_Family_13_patient_18 biolink:Case Family 13 patient 18 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_2_patient_3 biolink:Case Family 2 patient 3 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_6_patient_7 biolink:Case Family 6 patient 7 MALE phenopacket.store:ASPM.PMID_27250695_Family_4_patient_5 biolink:Case Family 4 patient 5 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_15_patient_21 biolink:Case Family 15 patient 21 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_10_patient_12 biolink:Case Family 10 patient 12 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_7_patient_8 biolink:Case Family 7 patient 8 MALE phenopacket.store:ASPM.PMID_27250695_Family_5_patient_6 biolink:Case Family 5 patient 6 MALE phenopacket.store:ASPM.PMID_27250695_Family_10_patient_13 biolink:Case Family 10 patient 13 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_8_patient_9 biolink:Case Family 8 patient 9 MALE phenopacket.store:ASPM.PMID_27250695_Family_2_patient_2 biolink:Case Family 2 patient 2 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_3_patient_4 biolink:Case Family 3 patient 4 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_11_patient_15 biolink:Case Family 11 patient 15 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_1_patient_1 biolink:Case Family 1 patient 1 FEMALE phenopacket.store:ASPM.PMID_29644084_patient biolink:Case patient MALE phenopacket.store:ASPM.PMID_27250695_Family_9_patient_11 biolink:Case Family 9 patient 11 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_13_patient_17 biolink:Case Family 13 patient 17 FEMALE phenopacket.store:ASPM.PMID_27250695_Family_8_patient_10 biolink:Case Family 8 patient 10 MALE phenopacket.store:ASPM.PMID_27250695_Family_10_patient_14 biolink:Case Family 10 patient 14 FEMALE phenopacket.store:ASS1.PMID_23099195_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:ASS1.PMID_23099195_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:ASS1.PMID_23099195_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:ASS1.PMID_23099195_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:ASS1.PMID_23099195_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:ATP13A2.PMID_28137957_HIH21480_II_3 biolink:Case HIH21480.II.3 FEMALE phenopacket.store:ATP13A2.PMID_36247900_IV_2 biolink:Case IV-2 MALE phenopacket.store:ATP13A2.PMID_31944623_Patient_A biolink:Case Patient A FEMALE phenopacket.store:ATP13A2.PMID_28137957_HIH22132_II_1 biolink:Case HIH22132.II.1 FEMALE phenopacket.store:ATP13A2.PMID_33862550_patient biolink:Case patient FEMALE phenopacket.store:ATP13A2.PMID_31944623_Patient_C biolink:Case Patient C MALE phenopacket.store:ATP13A2.PMID_38252374_46_year_old_Chinese_woman biolink:Case 46-year-old Chinese woman FEMALE phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_1 biolink:Case HSP84.II.1 MALE phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_3 biolink:Case HSP84.II.3 MALE phenopacket.store:ATP13A2.PMID_31944623_Patient_B biolink:Case Patient B MALE phenopacket.store:ATP13A2.PMID_28137957_HSP84_II_4 biolink:Case HSP84.II.4 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_13 biolink:Case Patient 13 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:ATP6V0C.PMID_37161035_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_18 biolink:Case Patient 18 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_9 biolink:Case Patient 9 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_17 biolink:Case Patient 17 FEMALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_27 biolink:Case Patient 27 FEMALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_24 biolink:Case Patient 24 MALE phenopacket.store:ATP6V0C.PMID_33190975_patient biolink:Case patient FEMALE phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_III_1 biolink:Case Family 2 individual III-1 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_16 biolink:Case Patient 16 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_20 biolink:Case Patient 20 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_26 biolink:Case Patient 26 FEMALE phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_2 biolink:Case Family 1 individual II-2 FEMALE phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_I_1 biolink:Case Family 1 individual I-1 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_10 biolink:Case Patient 10 FEMALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_11 biolink:Case Patient 11 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_25 biolink:Case Patient 25 MALE phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_1 biolink:Case Family 1 individual II-1 FEMALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_14 biolink:Case Patient 14 FEMALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_22 biolink:Case Patient 22 MALE phenopacket.store:ATP6V0C.PMID_35600075_Family_2_individual_II_1 biolink:Case Family 2 individual II-1 FEMALE phenopacket.store:ATP6V0C.PMID_37161035_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_21 biolink:Case Patient 21 MALE phenopacket.store:ATP6V0C.PMID_36074901_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:ATP6V0C.PMID_37161035_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:ATP6V0C.PMID_35600075_Family_1_individual_II_3 biolink:Case Family 1 individual II-3 MALE phenopacket.store:ATP6V1A.PMID_28065471_PIII:1 biolink:Case PIII:1 MALE phenopacket.store:ATP6V1A.PMID_28065471_PIV:1 biolink:Case PIV:1 MALE phenopacket.store:ATP6V1A.PMID_28065471_PV:1 biolink:Case PV:1 MALE phenopacket.store:ATP6V1E1.PMID_28065471_PII:2 biolink:Case PII:2 MALE phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_2 biolink:Case 10DG0257 Individual 2 MALE phenopacket.store:ATP6V1E1.PMID_28065471_PII:1 biolink:Case PII:1 FEMALE phenopacket.store:ATP6V1E1.PMID_28065471_PI:2 biolink:Case PI:2 FEMALE phenopacket.store:ATP6V1E1.PMID_27023906_10DG0257_Individual_1 biolink:Case 10DG0257 Individual 1 MALE phenopacket.store:ATP6V1E1.PMID_28065471_PI:1 biolink:Case PI:1 FEMALE phenopacket.store:ATRX.PMID_28371217_brother biolink:Case brother MALE phenopacket.store:ATRX.PMID_28371217_proband biolink:Case proband MALE phenopacket.store:AXIN1.PMID_37582359_F4-III-1 biolink:Case F4-III-1 FEMALE phenopacket.store:AXIN1.PMID_37582359_F2-III-2 biolink:Case F2-III-2 MALE phenopacket.store:AXIN1.PMID_37582359_F1-II-4 biolink:Case F1-II-4 FEMALE phenopacket.store:AXIN1.PMID_37582359_F1-II-1 biolink:Case F1-II-1 FEMALE phenopacket.store:AXIN1.PMID_37582359_F4-III-3 biolink:Case F4-III-3 FEMALE phenopacket.store:AXIN1.PMID_37582359_F4-III-4 biolink:Case F4-III-4 MALE phenopacket.store:AXIN1.PMID_37582359_F3-III-1 biolink:Case F3-III-1 FEMALE phenopacket.store:B2M.PMID_22693999_proband_II_7 biolink:Case proband II-7 FEMALE phenopacket.store:B2M.PMID_22693999_family_member_II_1 biolink:Case family member II-1 FEMALE phenopacket.store:B2M.PMID_22693999_family_member_II_9 biolink:Case family member II-9 FEMALE phenopacket.store:B2M.PMID_22693999_family_member_III_2 biolink:Case family member III-2 MALE phenopacket.store:B3GALT6.PMID_23664117_family_F8_subject_P9 biolink:Case family F8 subject P9 MALE phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P11 biolink:Case family F9 subject P11 FEMALE phenopacket.store:B3GALT6.PMID_23664117_family_F10_subject_P12 biolink:Case family F10 subject P12 FEMALE phenopacket.store:B3GALT6.PMID_23664117_family_F2_subject_P3 biolink:Case family F2 subject P3 FEMALE phenopacket.store:B3GALT6.PMID_23664117_family_F7_subject_P8 biolink:Case family F7 subject P8 MALE phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P2 biolink:Case family F1 subject P2 MALE phenopacket.store:B3GALT6.PMID_23664117_family_F1_subject_P1 biolink:Case family F1 subject P1 MALE phenopacket.store:B3GALT6.PMID_23664117_family_F9_subject_P10 biolink:Case family F9 subject P10 FEMALE phenopacket.store:B3GALT6.PMID_23664117_family_F6_subject_P7 biolink:Case family F6 subject P7 MALE phenopacket.store:B3GALT6.PMID_23664117_family_F4_subject_P5 biolink:Case family F4 subject P5 FEMALE phenopacket.store:B3GALT6.PMID_23664117_family_F5_subject_P6 biolink:Case family F5 subject P6 FEMALE phenopacket.store:BBS1.PMID_18669544_FO-01 biolink:Case FO-01 phenopacket.store:BBS1.PMID_18669544_FO-09 biolink:Case FO-09 phenopacket.store:BBS1.PMID_18669544_FO-03 biolink:Case FO-03 phenopacket.store:BBS1.PMID_18669544_FO-08 biolink:Case FO-08 phenopacket.store:BBS1.PMID_22940089_PT1 biolink:Case PT1 FEMALE phenopacket.store:BBS1.PMID_22940089_PT3 biolink:Case PT3 MALE phenopacket.store:BBS1.PMID_18669544_FO-06 biolink:Case FO-06 phenopacket.store:BBS1.PMID_18669544_FO-05 biolink:Case FO-05 phenopacket.store:BBS1.PMID_18669544_FO-02 biolink:Case FO-02 phenopacket.store:BBS1.PMID_22940089_PT2 biolink:Case PT2 FEMALE phenopacket.store:BBS1.PMID_18669544_FO-10 biolink:Case FO-10 phenopacket.store:BBS1.PMID_18669544_FO-07 biolink:Case FO-07 phenopacket.store:BBS1.PMID_18669544_FO-04 biolink:Case FO-04 phenopacket.store:BBS2.PMID_26078953_proband_II:2 biolink:Case proband II:2 FEMALE phenopacket.store:BBS2.PMID_20618352_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:BBS2.PMID_33688495_IV-2 biolink:Case IV-2 FEMALE phenopacket.store:BBS2.PMID_33688495_IV-3 biolink:Case IV-3 MALE phenopacket.store:BBS4.PMID_15654695_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:BBS4.PMID_15654695_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:BBS4.PMID_25533820_proband biolink:Case proband FEMALE phenopacket.store:BBS4.PMID_15654695_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:BBS5.PMID_30850397_proband_II_2 biolink:Case proband II:2 MALE phenopacket.store:BBS5.PMID_32811249_Sibling_2 biolink:Case Sibling 2 FEMALE phenopacket.store:BBS5.PMID_30850397_II_1 biolink:Case II:1 FEMALE phenopacket.store:BBS5.PMID_32811249_Sibling_1 biolink:Case Sibling 1 FEMALE phenopacket.store:BCKDHB.PMID_14742428_DM biolink:Case DM phenopacket.store:BCKDHB.PMID_2022752_proband_EK biolink:Case proband EK FEMALE phenopacket.store:BCKDHB.PMID_14742428_WA biolink:Case WA phenopacket.store:BCKDK.PMID_22956686_558-IV-3 biolink:Case 558-IV-3 FEMALE phenopacket.store:BCKDK.PMID_22956686_18-IV-2 biolink:Case 18-IV-2 MALE phenopacket.store:BCKDK.PMID_22956686_1435-IV-6 biolink:Case 1435-IV-6 MALE phenopacket.store:BCKDK.PMID_22956686_18-IV-1 biolink:Case 18-IV-1 FEMALE phenopacket.store:BCKDK.PMID_22956686_558-IV-2 biolink:Case 558-IV-2 FEMALE phenopacket.store:BCKDK.PMID_22956686_1435-IV-8 biolink:Case 1435-IV-8 MALE phenopacket.store:BRAF.PMID_24800029_boy biolink:Case boy MALE phenopacket.store:BRD4.PMID_35470444_P4 biolink:Case P4 FEMALE phenopacket.store:BRD4.PMID_35470444_P7 biolink:Case P7 MALE phenopacket.store:BRD4.PMID_35470444_P12 biolink:Case P12 MALE phenopacket.store:BRD4.PMID_35470444_P14 biolink:Case P14 MALE phenopacket.store:BRD4.PMID_35470444_P9 biolink:Case P9 MALE phenopacket.store:BRD4.PMID_35470444_P2 biolink:Case P2 MALE phenopacket.store:BRD4.PMID_35470444_P11 biolink:Case P11 MALE phenopacket.store:BRD4.PMID_35470444_P10 biolink:Case P10 FEMALE phenopacket.store:BRD4.PMID_29379197_CDL038 biolink:Case CDL038 FEMALE phenopacket.store:BRD4.PMID_35470444_P6 biolink:Case P6 FEMALE phenopacket.store:BRD4.PMID_35470444_P5 biolink:Case P5 MALE phenopacket.store:BRD4.PMID_29379197_DECIPHER_281165 biolink:Case DECIPHER 281165 FEMALE phenopacket.store:BRD4.PMID_29379197_DECIPHER_264293 biolink:Case DECIPHER 264293 MALE phenopacket.store:BRD4.PMID_35470444_P8 biolink:Case P8 MALE phenopacket.store:BRD4.PMID_35470444_P1 biolink:Case P1 MALE phenopacket.store:BRD4.PMID_35470444_P3 biolink:Case P3 FEMALE phenopacket.store:BRD4.PMID_29379197_3049 biolink:Case 3049 FEMALE phenopacket.store:BRD4.PMID_35470444_P13 biolink:Case P13 FEMALE phenopacket.store:BRPF1.PMID_27939640_individual_P8 biolink:Case individual P8 FEMALE phenopacket.store:BRPF1.PMID_27939640_individual_P2 biolink:Case individual P2 MALE phenopacket.store:BRPF1.PMID_27939640_individual_P3 biolink:Case individual P3 FEMALE phenopacket.store:BRPF1.PMID_27939640_individual_P7 biolink:Case individual P7 MALE phenopacket.store:BRPF1.PMID_27939640_individual_P9 biolink:Case individual P9 FEMALE phenopacket.store:BRPF1.PMID_27939640_individual_P6 biolink:Case individual P6 MALE phenopacket.store:BRPF1.PMID_27939640_individual_P5 biolink:Case individual P5 FEMALE phenopacket.store:BRPF1.PMID_27939640_individual_P4 biolink:Case individual P4 MALE phenopacket.store:BRPF1.PMID_27939640_individual_P1 biolink:Case individual P1 FEMALE phenopacket.store:BRPF1.PMID_27939640_individual_P10 biolink:Case individual P10 FEMALE phenopacket.store:CAD.PMID_25678555_UDP4003 biolink:Case UDP4003 MALE phenopacket.store:CALM1.PMID_23388215_Proband_1 biolink:Case Proband 1 FEMALE phenopacket.store:CALM1.PMID_27374306_Case_2 biolink:Case Case 2 MALE phenopacket.store:CALM1.PMID_23388215_Proband_3 biolink:Case Proband 3 MALE phenopacket.store:CALM1.PMID_23388215_Proband_4 biolink:Case Proband 4 MALE phenopacket.store:CALM2.PMID_23388215_Proband_2 biolink:Case Proband 2 FEMALE phenopacket.store:CALM2.PMID_27374306_Case_1 biolink:Case Case 1 MALE phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_4 biolink:Case Family B IV-4 MALE phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_2 biolink:Case Family B IV-2 FEMALE phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_13 biolink:Case Family C IV-13 FEMALE phenopacket.store:CAPN1.PMID_29379883_Family_1_patient_1 biolink:Case Family 1 patient 1 FEMALE phenopacket.store:CAPN1.PMID_27153400_Family_C_IV_7 biolink:Case Family C IV-7 MALE phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_1 biolink:Case Family B IV-1 MALE phenopacket.store:CAPN1.PMID_28321562_sister biolink:Case sister FEMALE phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_2 biolink:Case Family 2 patient 2 FEMALE phenopacket.store:CAPN1.PMID_28321562_index_patient biolink:Case index patient FEMALE phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_9 biolink:Case Family B IV-9 FEMALE phenopacket.store:CAPN1.PMID_29379883_Family_2_patient_1 biolink:Case Family 2 patient 1 FEMALE phenopacket.store:CAPN1.PMID_27153400_Family_B_IV_5 biolink:Case Family B IV-5 MALE phenopacket.store:CAPN1.PMID_27153400_Family_A_V_2 biolink:Case Family A V-2 FEMALE phenopacket.store:CAPN1.PMID_29678961_proband biolink:Case proband FEMALE phenopacket.store:CAPNS1.PMID_38230350_Proband_P3_family_A_II_3 biolink:Case Proband P3 family A II-3 FEMALE phenopacket.store:CAPNS1.PMID_38230350_Proband_P5_family_B_B_II_2 biolink:Case Proband P5 family B B II-2 MALE phenopacket.store:CAPNS1.PMID_38230350_Proband_P1_family_II_1 biolink:Case Proband P1 family II-1 FEMALE phenopacket.store:CAPNS1.PMID_38230350_Proband_P4_family_B_B_II_1 biolink:Case Proband P4 family B B II-1 MALE phenopacket.store:CAPNS1.PMID_38230350_Proband_P2_family_A_II_2 biolink:Case Proband P2 family A II-2 FEMALE phenopacket.store:CAPRIN1.PMID_35979925_Case_11 biolink:Case Case 11 MALE phenopacket.store:CAPRIN1.PMID_35979925_Case_10 biolink:Case Case 10 MALE phenopacket.store:CAPRIN1.PMID_35979925_Case_12 biolink:Case Case 12 FEMALE phenopacket.store:CAPRIN1.PMID_36136249_II_3_of_family_A biolink:Case II.3 of family A FEMALE phenopacket.store:CAPRIN1.PMID_35979925_Case_5 biolink:Case Case 5 MALE phenopacket.store:CAPRIN1.PMID_35979925_Case_6 biolink:Case Case 6 FEMALE phenopacket.store:CAPRIN1.PMID_35979925_Case_4 biolink:Case Case 4 FEMALE phenopacket.store:CAPRIN1.PMID_35979925_Case_9 biolink:Case Case 9 MALE phenopacket.store:CAPRIN1.PMID_35979925_Case_8 biolink:Case Case 8 MALE phenopacket.store:CAPRIN1.PMID_35979925_Case_2 biolink:Case Case 2 MALE phenopacket.store:CAPRIN1.PMID_35979925_Case_3 biolink:Case Case 3 MALE phenopacket.store:CAPRIN1.PMID_36136249_II_2_of_family_B biolink:Case II.2 of family B MALE phenopacket.store:CAPRIN1.PMID_35979925_Case_1 biolink:Case Case 1 MALE phenopacket.store:CAPRIN1.PMID_35979925_Case_7 biolink:Case Case 7 MALE phenopacket.store:CARD9.PMID_19864672_Patient_2M biolink:Case Patient 2M FEMALE phenopacket.store:CARD9.PMID_19864672_Patient_5F biolink:Case Patient 5F MALE phenopacket.store:CARD9.PMID_19864672_Patient_1M biolink:Case Patient 1M FEMALE phenopacket.store:CARD9.PMID_19864672_Patient_2B1 biolink:Case Patient 2B1 MALE phenopacket.store:CARD9.PMID_26044242_24_year_old_Caucasian_male biolink:Case 24-year-old Caucasian male MALE phenopacket.store:CARD9.PMID_19864672_Patient_2B2 biolink:Case Patient 2B2 MALE phenopacket.store:CASP2.PMID_37880421_Family_5_II_1 biolink:Case Family 5 II-1 MALE phenopacket.store:CASP2.PMID_37880421_Family_4_II_2 biolink:Case Family 4 II-2 MALE phenopacket.store:CASP2.PMID_37880421_Family_4_II_1 biolink:Case Family 4 II-1 FEMALE phenopacket.store:CASP2.PMID_37880421_Family_3_II_2 biolink:Case Family 3 II-2 MALE phenopacket.store:CASP2.PMID_37880421_Family_2_II_1 biolink:Case Family 2 II-1 MALE phenopacket.store:CASP2.PMID_37880421_Family_3_II1 biolink:Case Family 3 II1 FEMALE phenopacket.store:CASP2.PMID_37880421_Family_1_II_3 biolink:Case Family 1 II-3 FEMALE phenopacket.store:CAV3.PMID_11805270_patient biolink:Case patient FEMALE phenopacket.store:CAV3.PMID_18930476_individual_II2 biolink:Case individual II2 MALE phenopacket.store:CAV3.PMID_18930476_individual_III3 biolink:Case individual III3 FEMALE phenopacket.store:CAV3.PMID_18930476_individual_III2 biolink:Case individual III2 FEMALE phenopacket.store:CAV3.PMID_18930476_individual_II5 biolink:Case individual II5 MALE phenopacket.store:CAV3.PMID_18930476_individual_II1 biolink:Case individual II1 MALE phenopacket.store:CAV3.PMID_18930476_individual_II3 biolink:Case individual II3 MALE phenopacket.store:CAV3.PMID_18930476_proband_I1 biolink:Case proband I1 MALE phenopacket.store:CBLB.PMID_36006710_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:CBLB.PMID_36006710_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:CBLB.PMID_36006710_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:CBS.PMID_26667307_III_4 biolink:Case III:4 FEMALE phenopacket.store:CBS.PMID_8755636_patient biolink:Case patient FEMALE phenopacket.store:CBS.PMID_26667307_III_2 biolink:Case III:2 FEMALE phenopacket.store:CBS.PMID_26667307_III_3 biolink:Case III:3 FEMALE phenopacket.store:CCDC146.PMID_38441556_Patient_09IF026 biolink:Case Patient 09IF026 MALE phenopacket.store:CCDC146.PMID_38441556_Patient_08IF039 biolink:Case Patient 08IF039 MALE phenopacket.store:CCIN.PMID_31985809_GL_12 biolink:Case GL-12 MALE phenopacket.store:CCIN.PMID_36546111_brother_F1_1 biolink:Case brother F1-1 MALE phenopacket.store:CCIN.PMID_36546111_brother_F1_2 biolink:Case brother F1-2 MALE phenopacket.store:CCIN.PMID_36546111_nan biolink:Case nan MALE phenopacket.store:CCIN.PMID_36527329_nan biolink:Case nan MALE phenopacket.store:CCNQ.PMID_18297069_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:CCNQ.PMID_18297069_Case_4 biolink:Case Case 4 FEMALE phenopacket.store:CCNQ.PMID_18297069_Case_3 biolink:Case Case 3 FEMALE phenopacket.store:CCNQ.PMID_18297069_Case_6 biolink:Case Case 6 FEMALE phenopacket.store:CCNQ.PMID_18297069_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:CCNQ.PMID_18297069_Case_5 biolink:Case Case 5 FEMALE phenopacket.store:CD28.PMID_34214472_patient_P3 biolink:Case patient P3 FEMALE phenopacket.store:CD28.PMID_34214472_patient_P1 biolink:Case patient P1 MALE phenopacket.store:CD28.PMID_34214472_patient_P2 biolink:Case patient P2 MALE phenopacket.store:CDH3.PMID_28061825_proband biolink:Case proband MALE phenopacket.store:CDH3.PMID_12445216_affected_13_y_old_patient biolink:Case affected 13-y-old patient FEMALE phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_4 biolink:Case Individual F2-II:4 MALE phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_3 biolink:Case Individual F4-II:3 MALE phenopacket.store:CDK10.PMID_28886341_Individual_F3_II_2 biolink:Case Individual F3-II:2 FEMALE phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_1 biolink:Case Individual F1-II:1 MALE phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_2 biolink:Case Individual F4-II:2 FEMALE phenopacket.store:CDK10.PMID_28886341_Individual_F5_II_2 biolink:Case Individual F5-II:2 MALE phenopacket.store:CDK10.PMID_28886341_Individual_F2_II_5 biolink:Case Individual F2-II:5 MALE phenopacket.store:CDK10.PMID_28886341_Individual_F4_II_1 biolink:Case Individual F4-II:1 MALE phenopacket.store:CDK10.PMID_28886341_Individual_F1_II_3 biolink:Case Individual F1-II:3 MALE phenopacket.store:CDK5RAP2.PMID_23726037_patient biolink:Case patient FEMALE phenopacket.store:CENPJ.PMID_16900296_IV-4 biolink:Case IV-4 FEMALE phenopacket.store:CENPJ.PMID_16900296_IV-3 biolink:Case IV-3 MALE phenopacket.store:CENPJ.PMID_16900296_IV-5 biolink:Case IV-5 FEMALE phenopacket.store:CEP295.PMID_38154379_2_Family_2 biolink:Case 2 (Family 2) FEMALE phenopacket.store:CEP295.PMID_38154379_1_Family_1 biolink:Case 1 (Family 1) MALE phenopacket.store:CEP295.PMID_38154379_3_Family_2 biolink:Case 3 (Family 2) MALE phenopacket.store:CEP295.PMID_38154379_4_Family_2 biolink:Case 4 (Family 2) MALE phenopacket.store:CFL2.PMID_22560515_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:CFL2.PMID_22560515_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:CHD7.PMID_17661815_Patient_B_III_3 biolink:Case Patient B III-3 MALE phenopacket.store:CHD7.PMID_17661815_Patient_A_II_2 biolink:Case Patient A II-2 FEMALE phenopacket.store:CHD7.PMID_17661815_Patient_B_II_2 biolink:Case Patient B II-2 MALE phenopacket.store:CHD7.PMID_17661815_Patient_A_III_2 biolink:Case Patient A III-2 MALE phenopacket.store:CHD7.PMID_17661815_Patient_B_III_1 biolink:Case Patient B III-1 MALE phenopacket.store:CHD7.PMID_17661815_Patient_A_III_3 biolink:Case Patient A III-3 MALE phenopacket.store:CHD8.PMID_36182950_Patient_104 biolink:Case Patient 104 MALE phenopacket.store:CHD8.PMID_36182950_Patient_70 biolink:Case Patient 70 FEMALE phenopacket.store:CHD8.PMID_24998929_Patient_Troina2037 biolink:Case Patient Troina2037 FEMALE phenopacket.store:CHD8.PMID_24998929_Patient_APP_109580_100 biolink:Case Patient APP_109580-100 MALE phenopacket.store:CHD8.PMID_24998929_Patient_13844_p1 biolink:Case Patient 13844.p1 MALE phenopacket.store:CHD8.PMID_34415117_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:CHD8.PMID_38441608_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:CHD8.PMID_31001818_individual_8_DDD_NWT305513 biolink:Case individual 8-DDD-NWT305513 MALE phenopacket.store:CHD8.PMID_31721432_patient_15 biolink:Case patient 15 MALE phenopacket.store:CHD8.PMID_31721432_patient_16 biolink:Case patient 16 MALE phenopacket.store:CHD8.PMID_36182950_Patient_90 biolink:Case Patient 90 FEMALE phenopacket.store:CHD8.PMID_31001818_individual_9_MCGM_1 biolink:Case individual 9-MCGM-1 MALE phenopacket.store:CHD8.PMID_36182950_Patient_95 biolink:Case Patient 95 MALE phenopacket.store:CHD8.PMID_31980904_ASD415 biolink:Case ASD415 MALE phenopacket.store:CHD8.PMID_24998929_Patient_12752_p1 biolink:Case Patient 12752.p1 FEMALE phenopacket.store:CHD8.PMID_36182950_Patient_86 biolink:Case Patient 86 MALE phenopacket.store:CHD8.PMID_36182950_Patient_83 biolink:Case Patient 83 FEMALE phenopacket.store:CHD8.PMID_31001818_individual_2_DDD_DUB293181 biolink:Case individual 2-DDD-DUB293181 MALE phenopacket.store:CHD8.PMID_36182950_Patient_81 biolink:Case Patient 81 MALE phenopacket.store:CHD8.PMID_36731504_nan biolink:Case nan MALE phenopacket.store:CHD8.PMID_24998929_Patient_12991_p1 biolink:Case Patient 12991.p1 MALE phenopacket.store:CHD8.PMID_38441608_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:CHD8.PMID_31721432_patient_25 biolink:Case patient 25 MALE phenopacket.store:CHD8.PMID_31001818_individual_3_DDD_OXF273385 biolink:Case individual 3-DDD-OXF273385 FEMALE phenopacket.store:CHD8.PMID_31721432_patient_20 biolink:Case patient 20 MALE phenopacket.store:CHD8.PMID_31980904_GX001 biolink:Case GX001 FEMALE phenopacket.store:CHD8.PMID_36182950_Patient_82 biolink:Case Patient 82 MALE phenopacket.store:CHD8.PMID_31001818_individual_4_DDD_NGS276528 biolink:Case individual 4-DDD-NGS276528 MALE phenopacket.store:CHD8.PMID_36182950_Patient_72 biolink:Case Patient 72 MALE phenopacket.store:CHD8.PMID_31721432_patient_12 biolink:Case patient 12 FEMALE phenopacket.store:CHD8.PMID_31980904_ASD172 biolink:Case ASD172 MALE phenopacket.store:CHD8.PMID_36182950_Patient_103 biolink:Case Patient 103 MALE phenopacket.store:CHD8.PMID_31001818_individual_7_DDD_NIG283714 biolink:Case individual 7-DDD-NIG283714 MALE phenopacket.store:CHD8.PMID_36182950_Patient_99 biolink:Case Patient 99 FEMALE phenopacket.store:CHD8.PMID_36182950_Patient_100 biolink:Case Patient 100 MALE phenopacket.store:CHD8.PMID_31721432_patient_8 biolink:Case patient 8 MALE phenopacket.store:CHD8.PMID_36182950_Patient_89 biolink:Case Patient 89 FEMALE phenopacket.store:CHD8.PMID_36182950_Patient_85 biolink:Case Patient 85 FEMALE phenopacket.store:CHD8.PMID_36182950_Patient_73 biolink:Case Patient 73 MALE phenopacket.store:CHD8.PMID_38428335_Patient biolink:Case Patient MALE phenopacket.store:CHD8.PMID_31721432_patient_23 biolink:Case patient 23 MALE phenopacket.store:CHD8.PMID_36182950_Patient_84 biolink:Case Patient 84 MALE phenopacket.store:CHD8.PMID_30631761_Patient_47_S3 biolink:Case Patient 47_S3 MALE phenopacket.store:CHD8.PMID_31001818_individual_1_DDD_SMH279310 biolink:Case individual 1-DDD-SMH279310 MALE phenopacket.store:CHD8.PMID_36182950_Patient_88 biolink:Case Patient 88 MALE phenopacket.store:CHD8.PMID_36182950_Patient_102 biolink:Case Patient 102 MALE phenopacket.store:CHD8.PMID_36182950_Patient_105 biolink:Case Patient 105 MALE phenopacket.store:CHD8.PMID_36182950_Patient_87 biolink:Case Patient 87 FEMALE phenopacket.store:CHD8.PMID_36182950_Patient_101 biolink:Case Patient 101 MALE phenopacket.store:CHD8.PMID_36182950_Patient_97 biolink:Case Patient 97 FEMALE phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA07_06646 biolink:Case Patient NijmegenDNA07-06646 MALE phenopacket.store:CHD8.PMID_24998929_Patient_14233_p1 biolink:Case Patient 14233.p1 MALE phenopacket.store:CHD8.PMID_38441608_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:CHD8.PMID_31001818_individual_10_MCGM_2 biolink:Case individual 10-MCGM-2 FEMALE phenopacket.store:CHD8.PMID_26789910_frameshift_case biolink:Case frameshift case MALE phenopacket.store:CHD8.PMID_24998929_Patient_NijmgenDNA023486 biolink:Case Patient NijmgenDNA023486 FEMALE phenopacket.store:CHD8.PMID_24998929_Patient_Troina2659 biolink:Case Patient Troina2659 MALE phenopacket.store:CHD8.PMID_27595554_patient biolink:Case patient FEMALE phenopacket.store:CHD8.PMID_32309624_case_report biolink:Case case report MALE phenopacket.store:CHD8.PMID_31001818_individual_5_DDD_CAM272076 biolink:Case individual 5-DDD-CAM272076 MALE phenopacket.store:CHD8.PMID_36182950_Patient_79 biolink:Case Patient 79 MALE phenopacket.store:CHD8.PMID_31980904_ASD397 biolink:Case ASD397 MALE phenopacket.store:CHD8.PMID_24998929_Patient_11654_p1 biolink:Case Patient 11654.p1 FEMALE phenopacket.store:CHD8.PMID_24998929_Patient_NijmegenDNA_010878 biolink:Case Patient NijmegenDNA-010878 MALE phenopacket.store:CHD8.PMID_36182950_Patient_80 biolink:Case Patient 80 MALE phenopacket.store:CHD8.PMID_34415117_patient_2 biolink:Case patient 2 FEMALE phenopacket.store:CHD8.PMID_24998929_Patient_13986_p1 biolink:Case Patient 13986.p1 MALE phenopacket.store:CHD8.PMID_36182950_Patient_78 biolink:Case Patient 78 FEMALE phenopacket.store:CHD8.PMID_36182950_Patient_71 biolink:Case Patient 71 FEMALE phenopacket.store:CHD8.PMID_36182950_Patient_75 biolink:Case Patient 75 FEMALE phenopacket.store:CHD8.PMID_31721432_patient_4 biolink:Case patient 4 FEMALE phenopacket.store:CHD8.PMID_24998929_Patient_14016_p1 biolink:Case Patient 14016.p1 MALE phenopacket.store:CHD8.PMID_31001818_individual_6_DDD_GSH279161 biolink:Case individual 6-DDD-GSH279161 MALE phenopacket.store:CHD8.PMID_36182950_Patient_74 biolink:Case Patient 74 MALE phenopacket.store:CHD8.PMID_36182950_Patient_91 biolink:Case Patient 91 MALE phenopacket.store:CHD8.PMID_31721432_patient_10 biolink:Case patient 10 MALE phenopacket.store:CHD8.PMID_24998929_Patient_14406_p1 biolink:Case Patient 14406.p1 MALE phenopacket.store:CHD8.PMID_24998929_Patient_12714_p1 biolink:Case Patient 12714.p1 MALE phenopacket.store:CHD8.PMID_31980904_patient_2 biolink:Case patient 2 MALE phenopacket.store:CHRDL1.PMID_24073597_III_1 biolink:Case III-1 MALE phenopacket.store:CHST14.PMID_30249733_Case_presentation biolink:Case Case presentation MALE phenopacket.store:CHSY1.PMID_24269551_patient_IV_1 biolink:Case patient IV-1 MALE phenopacket.store:CHSY1.PMID_24269551_patient_IV_2 biolink:Case patient IV-2 MALE phenopacket.store:CLCN1.PMID_30243293_nan biolink:Case nan MALE phenopacket.store:CLDN16.PMID_25477417_F2_1 biolink:Case F2.1 MALE phenopacket.store:CLDN16.PMID_25477417_F14_1 biolink:Case F14.1 FEMALE phenopacket.store:CLDN16.PMID_24321194_II_8 biolink:Case II:8 FEMALE phenopacket.store:CLDN16.PMID_24321194_II_2 biolink:Case II:2 MALE phenopacket.store:CLDN16.PMID_24321194_II_11 biolink:Case II:11 FEMALE phenopacket.store:CLDN16.PMID_16705067_Patient_1_sister biolink:Case Patient 1 (sister) FEMALE phenopacket.store:CLDN16.PMID_25477417_F5_2 biolink:Case F5.2 MALE phenopacket.store:CLDN16.PMID_24321194_II_1 biolink:Case II:1 MALE phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_6 biolink:Case Family A individual 6 FEMALE phenopacket.store:CLDN16.PMID_26426912_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:CLDN16.PMID_25477417_F10_1 biolink:Case F10.1 MALE phenopacket.store:CLDN16.PMID_21669885_F3_1 biolink:Case F3.1 MALE phenopacket.store:CLDN16.PMID_25477417_F4_2 biolink:Case F4.2 MALE phenopacket.store:CLDN16.PMID_25477417_F9_1 biolink:Case F9.1 FEMALE phenopacket.store:CLDN16.PMID_27067446_IV3 biolink:Case IV3 FEMALE phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_4 biolink:Case Family A individual 4 MALE phenopacket.store:CLDN16.PMID_25477417_F7_2 biolink:Case F7.2 MALE phenopacket.store:CLDN16.PMID_32869508_11_month_old_boy biolink:Case 11 month old boy MALE phenopacket.store:CLDN16.PMID_26426912_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:CLDN16.PMID_14628289_Family_A_individual_3 biolink:Case Family A individual 3 FEMALE phenopacket.store:CLDN16.PMID_15856319_index_case biolink:Case index case MALE phenopacket.store:CLDN16.PMID_25477417_F13_1 biolink:Case F13.1 FEMALE phenopacket.store:CLDN16.PMID_25477417_F3_2 biolink:Case F3.2 MALE phenopacket.store:CLDN16.PMID_26426912_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:CLDN16.PMID_14628289_Family_B_individual_6 biolink:Case Family B individual 6 MALE phenopacket.store:CLDN16.PMID_26136118_patient biolink:Case patient FEMALE phenopacket.store:CLDN16.PMID_25477417_F5_1 biolink:Case F5.1 MALE phenopacket.store:CLDN16.PMID_25477417_F16_1 biolink:Case F16.1 MALE phenopacket.store:CLDN16.PMID_25477417_F11_2 biolink:Case F11.2 MALE phenopacket.store:CLDN16.PMID_16501001_patient biolink:Case patient phenopacket.store:CLDN16.PMID_25477417_F7_1 biolink:Case F7.1 MALE phenopacket.store:CLDN16.PMID_24321194_II_6 biolink:Case II:6 MALE phenopacket.store:CLDN16.PMID_25477417_F11_1 biolink:Case F11.1 MALE phenopacket.store:CLDN16.PMID_25477417_F8_1 biolink:Case F8.1 FEMALE phenopacket.store:CLDN16.PMID_24321194_II_3 biolink:Case II:3 MALE phenopacket.store:CLDN16.PMID_25477417_F3_4 biolink:Case F3.4 MALE phenopacket.store:CLDN16.PMID_18816383_sister biolink:Case sister FEMALE phenopacket.store:CLDN16.PMID_25477417_F17_1 biolink:Case F17.1 FEMALE phenopacket.store:CLDN16.PMID_27067446_IV1 biolink:Case IV1 MALE phenopacket.store:CLDN16.PMID_25477417_F12_1 biolink:Case F12.1 FEMALE phenopacket.store:CLDN16.PMID_26426912_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:CLDN16.PMID_25477417_F1_1 biolink:Case F1.1 FEMALE phenopacket.store:CLDN16.PMID_26426912_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:CLDN16.PMID_25852890_patient biolink:Case patient MALE phenopacket.store:CLDN16.PMID_25477417_F3_3 biolink:Case F3.3 MALE phenopacket.store:CLDN16.PMID_25477417_F15_1 biolink:Case F15.1 MALE phenopacket.store:CLDN16.PMID_18816383_index_case biolink:Case index case MALE phenopacket.store:CLDN16.PMID_25477417_F3_1 biolink:Case F3.1 MALE phenopacket.store:CLDN16.PMID_25477417_F6_1 biolink:Case F6.1 FEMALE phenopacket.store:CLDN16.PMID_25477417_F4_1 biolink:Case F4.1 FEMALE phenopacket.store:CLDN16.PMID_16705067_Patient_2_brother biolink:Case Patient 2 (brother) MALE phenopacket.store:CLXN.PMID_36727596_OP-4161_II1 biolink:Case OP-4161 II1 FEMALE phenopacket.store:CLXN.PMID_36727596_OP-2301_II1 biolink:Case OP-2301 II1 FEMALE phenopacket.store:CLXN.PMID_36727596_OP-1110_II1 biolink:Case OP-1110 II1 FEMALE phenopacket.store:CMPK2.PMID_36443312_Family_1_II_5 biolink:Case Family 1 II-5 FEMALE phenopacket.store:CMPK2.PMID_36443312_Family_1_II_3 biolink:Case Family 1 II-3 MALE phenopacket.store:CMPK2.PMID_36443312_Family_2_II_1 biolink:Case Family 2 II-1 FEMALE phenopacket.store:CNTNAP2.PMID_21827697_C6 biolink:Case C6 FEMALE phenopacket.store:CNTNAP2.PMID_27066544_proband_A_IV_1 biolink:Case proband A:IV:1 FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_13_individual_ind_17 biolink:Case Family 13 individual ind-17 FEMALE phenopacket.store:CNTNAP2.PMID_22031302_Mik5 biolink:Case Mik5 phenopacket.store:CNTNAP2.PMID_21827697_C5 biolink:Case C5 FEMALE phenopacket.store:CNTNAP2.PMID_35911904_V_2 biolink:Case V-2 MALE phenopacket.store:CNTNAP2.PMID_16571880_cohort biolink:Case cohort phenopacket.store:CNTNAP2.PMID_27439707_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_7_individual_ind_11 biolink:Case Family 7 individual ind-11 MALE phenopacket.store:CNTNAP2.PMID_21827697_C3 biolink:Case C3 FEMALE phenopacket.store:CNTNAP2.PMID_33042910_Case_Presentation biolink:Case Case Presentation MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_4 biolink:Case Family 2 individual ind-4 FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_9_individual_ind_13 biolink:Case Family 9 individual ind-13 MALE phenopacket.store:CNTNAP2.PMID_27439707_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:CNTNAP2.PMID_33895390_Case_report biolink:Case Case report FEMALE phenopacket.store:CNTNAP2.PMID_19896112_P2 biolink:Case P2 FEMALE phenopacket.store:CNTNAP2.PMID_21827697_C2 biolink:Case C2 MALE phenopacket.store:CNTNAP2.PMID_27439707_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:CNTNAP2.PMID_21827697_C7 biolink:Case C7 FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_10_individual_ind_14 biolink:Case Family 10 individual ind-14 FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_4_individual_ind_8 biolink:Case Family 4 individual ind-8 MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_2 biolink:Case Family 1 individual ind-2 MALE phenopacket.store:CNTNAP2.PMID_21827697_C1 biolink:Case C1 FEMALE phenopacket.store:CNTNAP2.PMID_27439707_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:CNTNAP2.PMID_23074684_proband biolink:Case proband MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_5 biolink:Case Family 2 individual ind-5 FEMALE phenopacket.store:CNTNAP2.PMID_27439707_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:CNTNAP2.PMID_21827697_C4 biolink:Case C4 FEMALE phenopacket.store:CNTNAP2.PMID_35911904_III_5 biolink:Case III-5 FEMALE phenopacket.store:CNTNAP2.PMID_34778490_sister biolink:Case sister FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_7 biolink:Case Family 3 individual ind-7 MALE phenopacket.store:CNTNAP2.PMID_19896112_P1b biolink:Case P1b MALE phenopacket.store:CNTNAP2.PMID_27439707_Individual_6 biolink:Case Individual 6 MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_8_individual_ind_12 biolink:Case Family 8 individual ind-12 FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_15_individual_ind_20 biolink:Case Family 15 individual ind-20 MALE phenopacket.store:CNTNAP2.PMID_30762603_Case_report biolink:Case Case report MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_2_individual_ind_3 biolink:Case Family 2 individual ind-3 FEMALE phenopacket.store:CNTNAP2.PMID_23074684_brother biolink:Case brother MALE phenopacket.store:CNTNAP2.PMID_19896112_P1a biolink:Case P1a FEMALE phenopacket.store:CNTNAP2.PMID_27439707_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_11_individual_ind_15 biolink:Case Family 11 individual ind-15 MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_6_individual_ind_10 biolink:Case Family 6 individual ind-10 MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_19 biolink:Case Family 14 individual ind-19 MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_17_individual_ind_22 biolink:Case Family 17 individual ind-22 MALE phenopacket.store:CNTNAP2.PMID_26843181_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_14_individual_ind_18 biolink:Case Family 14 individual ind-18 MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_1_individual_ind_1 biolink:Case Family 1 individual ind-1 MALE phenopacket.store:CNTNAP2.PMID_27439707_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:CNTNAP2.PMID_34641913_Case_presentation biolink:Case Case presentation MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_5_individual_ind_9 biolink:Case Family 5 individual ind-9 FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_12_individual_ind_16 biolink:Case Family 12 individual ind-16 MALE phenopacket.store:CNTNAP2.PMID_17646849_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:CNTNAP2.PMID_35911904_V_4 biolink:Case V-4 MALE phenopacket.store:CNTNAP2.PMID_26843181_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:CNTNAP2.PMID_37183190_Family_16_individual_ind_21 biolink:Case Family 16 individual ind-21 MALE phenopacket.store:CNTNAP2.PMID_34778490_proband biolink:Case proband FEMALE phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_5 biolink:Case Patient III:5 MALE phenopacket.store:CNTNAP2.PMID_37183190_Family_3_individual_ind_6 biolink:Case Family 3 individual ind-6 FEMALE phenopacket.store:CNTNAP2.PMID_25045150_Patient_III_4 biolink:Case Patient III:4 FEMALE phenopacket.store:CNTNAP2.PMID_35911904_III_4 biolink:Case III-4 FEMALE phenopacket.store:CNTNAP2.PMID_34737720_Patient biolink:Case Patient MALE phenopacket.store:CNTNAP2.PMID_27066544_father_A_III_1 biolink:Case father A:III:1 MALE phenopacket.store:CNTNAP2.PMID_19302947_girl biolink:Case girl FEMALE phenopacket.store:COG3.PMID_37711075_Family_2_R176_01 biolink:Case Family 2 R176-01 MALE phenopacket.store:COG3.PMID_37711075_Family_1_BAB13337 biolink:Case Family 1 BAB13337 MALE phenopacket.store:COG3.PMID_37711075_Family_2_MR176_0 biolink:Case Family 2 MR176-0 FEMALE phenopacket.store:COG3.PMID_37711075_Family_1_BAB13340 biolink:Case Family 1 BAB13340 FEMALE phenopacket.store:COG8.PMID_30690882_case_report biolink:Case case report MALE phenopacket.store:COG8.PMID_28619360_probadn biolink:Case probadn MALE phenopacket.store:COG8.PMID_17331980_patient biolink:Case patient MALE phenopacket.store:COG8.PMID_17220172_patient biolink:Case patient FEMALE phenopacket.store:COL11A1.PMID_27081549_subject biolink:Case subject FEMALE phenopacket.store:COL11A1.PMID_28971234_child biolink:Case child MALE phenopacket.store:COL2A1.PMID_28841907_boy biolink:Case boy MALE phenopacket.store:COL3A1.PMID_36189931_Individual_20 biolink:Case Individual 20 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_33 biolink:Case Individual 33 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_26 biolink:Case Individual 26 FEMALE phenopacket.store:COL3A1.PMID_28742248_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_23 biolink:Case Individual 23 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_27 biolink:Case Individual 27 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_14 biolink:Case Individual 14 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_32 biolink:Case Individual 32 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_11 biolink:Case Individual 11 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_31 biolink:Case Individual 31 MALE phenopacket.store:COL3A1.PMID_28258187_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_16 biolink:Case Individual 16 FEMALE phenopacket.store:COL3A1.PMID_28258187_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_34 biolink:Case Individual 34 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:COL3A1.PMID_28258187_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_28 biolink:Case Individual 28 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_24 biolink:Case Individual 24 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_19 biolink:Case Individual 19 FEMALE phenopacket.store:COL3A1.PMID_28742248_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_22 biolink:Case Individual 22 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_21 biolink:Case Individual 21 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_35 biolink:Case Individual 35 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_18 biolink:Case Individual 18 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_13 biolink:Case Individual 13 FEMALE phenopacket.store:COL3A1.PMID_28258187_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_12 biolink:Case Individual 12 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_25 biolink:Case Individual 25 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_17 biolink:Case Individual 17 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_30 biolink:Case Individual 30 MALE phenopacket.store:COL3A1.PMID_36189931_Individual_8 biolink:Case Individual 8 FEMALE phenopacket.store:COL3A1.PMID_36189931_Individual_29 biolink:Case Individual 29 MALE phenopacket.store:COL5A1.PMID_38572164_nan biolink:Case nan FEMALE phenopacket.store:COL5A2.PMID_27656288_patient biolink:Case patient MALE phenopacket.store:COL6A1.PMID_17886299_patient_BM5 biolink:Case patient BM5 MALE phenopacket.store:COL6A1.PMID_17886299_patient_BM14 biolink:Case patient BM14 FEMALE phenopacket.store:COL6A1.PMID_17886299_patient_BM20 biolink:Case patient BM20 MALE phenopacket.store:COL6A1.PMID_30808312_patient biolink:Case patient MALE phenopacket.store:COL6A2.PMID_16075202_propositus biolink:Case propositus MALE phenopacket.store:COL6A2.PMID_11381124_Family_B_proband biolink:Case Family B proband MALE phenopacket.store:COL6A2.PMID_20729548_UCMD21 biolink:Case UCMD21 FEMALE phenopacket.store:COL6A2.PMID_11506412_nan biolink:Case nan MALE phenopacket.store:COL6A2.PMID_20106987_UC15 biolink:Case UC15 MALE phenopacket.store:COL6A2.PMID_20106987_UC3 biolink:Case UC3 FEMALE phenopacket.store:COL6A2.PMID_11381124_Family_A_son biolink:Case Family A son MALE phenopacket.store:COL6A3.PMID_17886299_Patient_BM2 biolink:Case Patient BM2 MALE phenopacket.store:COL6A3.PMID_11992252_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:COL6A3.PMID_11992252_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:COL6A3.PMID_11992252_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:COL6A3.PMID_11992252_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:COL6A3.PMID_36779064_patient biolink:Case patient FEMALE phenopacket.store:COL6A3.PMID_11992252_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:COMP.PMID_27330822_proband_II_1 biolink:Case proband II-1 MALE phenopacket.store:COMP.PMID_23562786_patient biolink:Case patient MALE phenopacket.store:COQ4.PMID_31396399_individual_9 biolink:Case individual 9 MALE phenopacket.store:COQ4.PMID_26185144_Family_4_Proband_4 biolink:Case Family 4 Proband 4 FEMALE phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_5 biolink:Case Family 1 Subject 5 FEMALE phenopacket.store:COQ4.PMID_30659264_Patient_II_2 biolink:Case Patient II-2 FEMALE phenopacket.store:COQ4.PMID_26185144_Family_2_Proband_2 biolink:Case Family 2 Proband 2 FEMALE phenopacket.store:COQ4.PMID_38013626_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:COQ4.PMID_25658047_Subject_5_II_1_family_4 biolink:Case Subject 5 II-1 family 4 MALE phenopacket.store:COQ4.PMID_31396399_Subject_3 biolink:Case Subject 3 FEMALE phenopacket.store:COQ4.PMID_30659264_Patient_II_1 biolink:Case Patient II-1 MALE phenopacket.store:COQ4.PMID_25658047_Subject_1_II_3_family_1 biolink:Case Subject 1 II-3, family 1 MALE phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_3 biolink:Case Family c individual c.3 FEMALE phenopacket.store:COQ4.PMID_36047608_Patient_6_F4_II_1 biolink:Case Patient 6 F4:II:1 FEMALE phenopacket.store:COQ4.PMID_31325447_Case_3 biolink:Case Case 3 MALE phenopacket.store:COQ4.PMID_25658047_Subject_2_II_1_family_2 biolink:Case Subject 2 II-1, family 2 FEMALE phenopacket.store:COQ4.PMID_26185144_Family_1_Proband_1 biolink:Case Family 1 Proband 1 FEMALE phenopacket.store:COQ4.PMID_25658047_Subject_4_II_3_family_3 biolink:Case Subject 4 II-3, family 3 FEMALE phenopacket.store:COQ4.PMID_31396399_Family_2individual_10 biolink:Case Family 2individual 10 FEMALE phenopacket.store:COQ4.PMID_38013626_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:COQ4.PMID_31396399_individual_6 biolink:Case individual 6 MALE phenopacket.store:COQ4.PMID_31396399_individual_8 biolink:Case individual 8 FEMALE phenopacket.store:COQ4.PMID_33704555_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:COQ4.PMID_31396399_Family_2individual_11 biolink:Case Family 2individual 11 FEMALE phenopacket.store:COQ4.PMID_38014483_Family_d_individual_d_4 biolink:Case Family d individual d.4 MALE phenopacket.store:COQ4.PMID_33215859_COQ4_III2 biolink:Case COQ4-III2 FEMALE phenopacket.store:COQ4.PMID_31396399_individual_7 biolink:Case individual 7 FEMALE phenopacket.store:COQ4.PMID_26185144_Family_1_Sibling_of_Proband_1 biolink:Case Family 1 Sibling of Proband 1 FEMALE phenopacket.store:COQ4.PMID_25658047_Subject_3_II_1_family_3 biolink:Case Subject 3 II-1, family 3 FEMALE phenopacket.store:COQ4.PMID_30847826_sister biolink:Case sister FEMALE phenopacket.store:COQ4.PMID_31396399_Subject_1 biolink:Case Subject 1 MALE phenopacket.store:COQ4.PMID_26185144_Family_3_Proband_3 biolink:Case Family 3 Proband 3 FEMALE phenopacket.store:COQ4.PMID_38014483_Family_a_individual_a_3 biolink:Case Family a individual a.3 MALE phenopacket.store:COQ4.PMID_28540186_Case_presentation biolink:Case Case presentation MALE phenopacket.store:COQ4.PMID_36047608_Patient_2_F1_II_1 biolink:Case Patient 2 F1:II:1 FEMALE phenopacket.store:COQ4.PMID_38013626_Patient_1_II_1_in_Family_1 biolink:Case Patient 1 (II-1 in Family 1) MALE phenopacket.store:COQ4.PMID_38014483_Family_b_individual_b_3 biolink:Case Family b individual b.3 FEMALE phenopacket.store:COQ4.PMID_30225196_Patient_2_V_4 biolink:Case Patient 2 (V-4) FEMALE phenopacket.store:COQ4.PMID_38014483_Family_e_individual_e_1 biolink:Case Family e individual e.1 FEMALE phenopacket.store:COQ4.PMID_31325447_Case_1 biolink:Case Case 1 MALE phenopacket.store:COQ4.PMID_36047608_Patient_1_F1_II_4 biolink:Case Patient 1 F1:II.4 MALE phenopacket.store:COQ4.PMID_26185144_Family_3_Sibling_of_Proband_3 biolink:Case Family 3 Sibling of Proband 3 FEMALE phenopacket.store:COQ4.PMID_36047608_Patient_3_F2_II_3 biolink:Case Patient 3 F2:II:3 MALE phenopacket.store:COQ4.PMID_30847826_index_case biolink:Case index case MALE phenopacket.store:COQ4.PMID_38014483_Family_c_individual_c_4 biolink:Case Family c individual c.4 FEMALE phenopacket.store:COQ4.PMID_38014483_Family_f_individual_f_3 biolink:Case Family f individual f.3 MALE phenopacket.store:COQ4.PMID_36047608_Patient_4_F3_II_3 biolink:Case Patient 4 F3:II:3 MALE phenopacket.store:COQ4.PMID_31396399_Family_1_Subject_4 biolink:Case Family 1 Subject 4 FEMALE phenopacket.store:COQ4.PMID_31396399_Subject_2 biolink:Case Subject 2 MALE phenopacket.store:COQ4.PMID_33704555_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:COQ4.PMID_36047608_Patient_5_F4_II_2 biolink:Case Patient 5 F4:II:2 FEMALE phenopacket.store:COQ4.PMID_31325447_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:COQ4.PMID_30225196_Patient_1_V_3 biolink:Case Patient 1 (V-3) MALE phenopacket.store:COQ7.PMID_36454683_II-1 biolink:Case II-1 FEMALE phenopacket.store:COQ7.PMID_36454683_II-2 biolink:Case II-2 MALE phenopacket.store:COQ7.PMID_37077559_Sibling_1 biolink:Case Sibling 1 MALE phenopacket.store:COQ7.PMID_37077559_Sibling_3 biolink:Case Sibling 3 MALE phenopacket.store:COQ7.PMID_37077559_Sibling_2 biolink:Case Sibling 2 FEMALE phenopacket.store:COQ7.PMID_36454683_II-3 biolink:Case II-3 FEMALE phenopacket.store:CORIN.PMID_37913506_II-6 biolink:Case II-6 FEMALE phenopacket.store:CORIN.PMID_37913506_II-3 biolink:Case II-3 MALE phenopacket.store:CRELD1.PMID_37947183_Family_F12_individual_P16 biolink:Case Family F12 individual P16 MALE phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P9 biolink:Case Family F6 individual P9 FEMALE phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P2 biolink:Case Family F2 individual P2 MALE phenopacket.store:CRELD1.PMID_37947183_Family_F13_individual_P17 biolink:Case Family F13 individual P17 MALE phenopacket.store:CRELD1.PMID_12632326_subject_2 biolink:Case subject 2 phenopacket.store:CRELD1.PMID_12632326_subject_3 biolink:Case subject 3 phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P6 biolink:Case Family F4 individual P6 MALE phenopacket.store:CRELD1.PMID_37947183_Family_F14_individual_P18 biolink:Case Family F14 individual P18 FEMALE phenopacket.store:CRELD1.PMID_37947183_Family_F3_individual_P4 biolink:Case Family F3 individual P4 FEMALE phenopacket.store:CRELD1.PMID_37947183_Family_F4_individual_P5 biolink:Case Family F4 individual P5 MALE phenopacket.store:CRELD1.PMID_37947183_Family_F8_individual_P11 biolink:Case Family F8 individual P11 MALE phenopacket.store:CRELD1.PMID_37947183_Family_F5_individual_P7 biolink:Case Family F5 individual P7 FEMALE phenopacket.store:CRELD1.PMID_37947183_Family_F6_individual_P8 biolink:Case Family F6 individual P8 FEMALE phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P14 biolink:Case Family F10 individual P14 FEMALE phenopacket.store:CRELD1.PMID_37947183_Family_F10_individual_P13 biolink:Case Family F10 individual P13 MALE phenopacket.store:CRELD1.PMID_37947183_Family_F9_individual_P12 biolink:Case Family F9 individual P12 FEMALE phenopacket.store:CRELD1.PMID_37947183_Family_F7_individual_P10 biolink:Case Family F7 individual P10 MALE phenopacket.store:CRELD1.PMID_12632326_subject_1 biolink:Case subject 1 phenopacket.store:CRELD1.PMID_37947183_Family_F1_individual_P1 biolink:Case Family F1 individual P1 FEMALE phenopacket.store:CRELD1.PMID_37947183_Family_F2_individual_P3 biolink:Case Family F2 individual P3 FEMALE phenopacket.store:CRELD1.PMID_37947183_Family_F11_individual_P15 biolink:Case Family F11 individual P15 MALE phenopacket.store:CRX.PMID_30095615_proband biolink:Case proband MALE phenopacket.store:CSTF2.PMID_32816001_II:1 biolink:Case II:1 MALE phenopacket.store:CSTF2.PMID_32816001_II:2 biolink:Case II:2 MALE phenopacket.store:CSTF2.PMID_32816001_III:1 biolink:Case III:1 MALE phenopacket.store:CTCF.PMID_31239556_individual_8 biolink:Case individual 8 MALE phenopacket.store:CTCF.PMID_31239556_individual_10 biolink:Case individual 10 MALE phenopacket.store:CTCF.PMID_31239556_individual_36 biolink:Case individual 36 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_28 biolink:Case individual 28 MALE phenopacket.store:CTCF.PMID_31239556_individual_2_Chen_et_al biolink:Case individual 2, Chen et al. FEMALE phenopacket.store:CTCF.PMID_31239556_individual_1 biolink:Case individual 1 MALE phenopacket.store:CTCF.PMID_31239556_individual_29 biolink:Case individual 29 MALE phenopacket.store:CTCF.PMID_31239556_individual_31 biolink:Case individual 31 MALE phenopacket.store:CTCF.PMID_31239556_individual_34 biolink:Case individual 34 MALE phenopacket.store:CTCF.PMID_31239556_individual_9 biolink:Case individual 9 MALE phenopacket.store:CTCF.PMID_31239556_individual_37 biolink:Case individual 37 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_39 biolink:Case individual 39 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_30 biolink:Case individual 30 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_22_father biolink:Case individual 22, father MALE phenopacket.store:CTCF.PMID_31239556_individual_Bastaki_et_al biolink:Case individual Bastaki et al. FEMALE phenopacket.store:CTCF.PMID_31239556_individual_32 biolink:Case individual 32 MALE phenopacket.store:CTCF.PMID_31239556_individual_2 biolink:Case individual 2 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_11 biolink:Case individual 11 MALE phenopacket.store:CTCF.PMID_31239556_individual_25 biolink:Case individual 25 MALE phenopacket.store:CTCF.PMID_31239556_individual_16 biolink:Case individual 16 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_13 biolink:Case individual 13 MALE phenopacket.store:CTCF.PMID_31239556_individual_38 biolink:Case individual 38 MALE phenopacket.store:CTCF.PMID_31239556_individual_12 biolink:Case individual 12 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_15 biolink:Case individual 15 MALE phenopacket.store:CTCF.PMID_31239556_individual_23 biolink:Case individual 23 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_3 biolink:Case individual 3 MALE phenopacket.store:CTCF.PMID_31239556_individual_21_twin_2 biolink:Case individual 21, twin 2 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_27 biolink:Case individual 27 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_17 biolink:Case individual 17 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_1_Chen_et_al biolink:Case individual 1, Chen et al. FEMALE phenopacket.store:CTCF.PMID_31239556_individual_1_Gregor_et_al biolink:Case individual 1, Gregor et al. MALE phenopacket.store:CTCF.PMID_31239556_individual_26 biolink:Case individual 26 MALE phenopacket.store:CTCF.PMID_31239556_individual_4 biolink:Case individual 4 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_35 biolink:Case individual 35 MALE phenopacket.store:CTCF.PMID_31239556_individual_7 biolink:Case individual 7 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_33 biolink:Case individual 33 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_2_Gregor_et_al biolink:Case individual 2, Gregor et al. MALE phenopacket.store:CTCF.PMID_31239556_individual_6 biolink:Case individual 6 MALE phenopacket.store:CTCF.PMID_31239556_individual_3_Gregor_et_al biolink:Case individual 3, Gregor et al. MALE phenopacket.store:CTCF.PMID_31239556_individual_3_Chen_et_al biolink:Case individual 3, Chen et al. MALE phenopacket.store:CTCF.PMID_31239556_individual_20_twin_1 biolink:Case individual 20, twin 1 MALE phenopacket.store:CTCF.PMID_31239556_individual_19 biolink:Case individual 19 FEMALE phenopacket.store:CTCF.PMID_31239556_individual_24 biolink:Case individual 24 MALE phenopacket.store:CTCF.PMID_31239556_individual_5 biolink:Case individual 5 MALE phenopacket.store:CTCF.PMID_31239556_individual_14 biolink:Case individual 14 MALE phenopacket.store:CTCF.PMID_31239556_individual_18 biolink:Case individual 18 MALE phenopacket.store:CTSA.PMID_24769197_patient biolink:Case patient FEMALE phenopacket.store:CWC27.PMID_28285769_Individual_7_II_1 biolink:Case Individual 7:II-1 FEMALE phenopacket.store:CWC27.PMID_28285769_Individual_5_II_1 biolink:Case Individual 5:II-1 MALE phenopacket.store:CWC27.PMID_28285769_Individual_1_II_4 biolink:Case Individual 1:II-4 MALE phenopacket.store:CWC27.PMID_28285769_Individual_4_II_4 biolink:Case Individual 4:II-4 MALE phenopacket.store:CWC27.PMID_28285769_Individual_6_II_1 biolink:Case Individual 6:II-1 MALE phenopacket.store:CWC27.PMID_28285769_Individual_2_II_2 biolink:Case Individual 2:II-2 FEMALE phenopacket.store:CWC27.PMID_28285769_Individual_1_II_3 biolink:Case Individual 1:II-3 MALE phenopacket.store:CWC27.PMID_28285769_Individual_3_II_1 biolink:Case Individual 3:II-1 MALE phenopacket.store:CWC27.PMID_28285769_Individual_4_II_3 biolink:Case Individual 4:II-3 MALE phenopacket.store:CWC27.PMID_28285769_Individual_2_II_1 biolink:Case Individual 2:II-1 MALE phenopacket.store:CYLC1.PMID_38013430_M2270 biolink:Case M2270 MALE phenopacket.store:CYLC1.PMID_38573307_AAX765 biolink:Case AAX765 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_47 biolink:Case individual 47 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_48 biolink:Case individual 48 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_44 biolink:Case individual 44 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_40 biolink:Case individual 40 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_53 biolink:Case individual 53 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_42 biolink:Case individual 42 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_62 biolink:Case individual 62 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_28 biolink:Case individual 28 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_69 biolink:Case individual 69 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_39 biolink:Case individual 39 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_33 biolink:Case individual 33 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_22 biolink:Case individual 22 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_29 biolink:Case individual 29 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_12 biolink:Case individual 12 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_67 biolink:Case individual 67 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_19 biolink:Case individual 19 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_54 biolink:Case individual 54 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_16 biolink:Case individual 16 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_1 biolink:Case individual 1 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_3 biolink:Case individual 3 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_49 biolink:Case individual 49 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_14 biolink:Case individual 14 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_66 biolink:Case individual 66 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_7 biolink:Case individual 7 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_32 biolink:Case individual 32 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_26 biolink:Case individual 26 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_65 biolink:Case individual 65 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_2 biolink:Case individual 2 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_59 biolink:Case individual 59 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_43 biolink:Case individual 43 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_64 biolink:Case individual 64 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_5 biolink:Case individual 5 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_45 biolink:Case individual 45 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_25 biolink:Case individual 25 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_57 biolink:Case individual 57 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_56 biolink:Case individual 56 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_9 biolink:Case individual 9 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_41 biolink:Case individual 41 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_31 biolink:Case individual 31 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_11 biolink:Case individual 11 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_51 biolink:Case individual 51 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_15 biolink:Case individual 15 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_21 biolink:Case individual 21 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_23 biolink:Case individual 23 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_24 biolink:Case individual 24 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_4 biolink:Case individual 4 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_46 biolink:Case individual 46 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_20 biolink:Case individual 20 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_35 biolink:Case individual 35 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_30 biolink:Case individual 30 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_13 biolink:Case individual 13 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_6 biolink:Case individual 6 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_60 biolink:Case individual 60 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_34 biolink:Case individual 34 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_8 biolink:Case individual 8 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_58 biolink:Case individual 58 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_68 biolink:Case individual 68 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_27 biolink:Case individual 27 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_37 biolink:Case individual 37 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_38 biolink:Case individual 38 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_55 biolink:Case individual 55 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_10 biolink:Case individual 10 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_50 biolink:Case individual 50 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_63 biolink:Case individual 63 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_61 biolink:Case individual 61 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_52 biolink:Case individual 52 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_36 biolink:Case individual 36 FEMALE phenopacket.store:CYP21A2.PMID_30968594_individual_18 biolink:Case individual 18 MALE phenopacket.store:CYP21A2.PMID_30968594_individual_17 biolink:Case individual 17 MALE phenopacket.store:CYP27B1.PMID_26734137_patient biolink:Case patient MALE phenopacket.store:DAW1.PMID_36074124_1_06817 biolink:Case 1-06817 phenopacket.store:DAW1.PMID_36074124_2_IV_1 biolink:Case 2-IV-1 FEMALE phenopacket.store:DAW1.PMID_36074124_1_VII_8 biolink:Case 1-VII-8 FEMALE phenopacket.store:DAW1.PMID_36074124_1_01687 biolink:Case 1-01687 phenopacket.store:DAW1.PMID_36074124_1_VII_5 biolink:Case 1-VII-5 FEMALE phenopacket.store:DAW1.PMID_36074124_1_VII_1 biolink:Case 1-VII-1 FEMALE phenopacket.store:DBR1.PMID_37656279_Pedigree_C_II:4 biolink:Case Pedigree C II:4 MALE phenopacket.store:DBR1.PMID_37656279_Pedigree_D_II:4 biolink:Case Pedigree D II:4 MALE phenopacket.store:DBR1.PMID_37656279_Pedigree_B_II:1 biolink:Case Pedigree B II:1 FEMALE phenopacket.store:DBR1.PMID_37656279_Pedigree_A_II:3 biolink:Case Pedigree A II:3 FEMALE phenopacket.store:DBT.PMID_9621512_Patient_KM03 biolink:Case Patient KM03 phenopacket.store:DBT.PMID_9621512_Patient_KM05 biolink:Case Patient KM05 FEMALE phenopacket.store:DDX59.PMID_23972372_family_2_V_7 biolink:Case family 2 V:7 MALE phenopacket.store:DDX59.PMID_23972372_family_2_V_12 biolink:Case family 2 V:12 FEMALE phenopacket.store:DDX59.PMID_29127725_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:DDX59.PMID_23972372_family_2_V_1 biolink:Case family 2 V:1 MALE phenopacket.store:DDX59.PMID_23972372_family_1_V_4 biolink:Case family 1 V:4 FEMALE phenopacket.store:DDX59.PMID_23972372_family_1_V_13 biolink:Case family 1 V:13 FEMALE phenopacket.store:DDX59.PMID_29127725_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:DDX59.PMID_23972372_family_2_V_2 biolink:Case family 2 V:2 FEMALE phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_3 biolink:Case Family 1 Patient 3 FEMALE phenopacket.store:DEPDC5.PMID_36067010_Family_2_Patient_4 biolink:Case Family 2 Patient 4 MALE phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_7 biolink:Case Family 4 Patient 7 FEMALE phenopacket.store:DEPDC5.PMID_36067010_Family_4_Patient_6 biolink:Case Family 4 Patient 6 MALE phenopacket.store:DEPDC5.PMID_36067010_Family_3_Patient_5 biolink:Case Family 3 Patient 5 MALE phenopacket.store:DEPDC5.PMID_36067010_Family_5_Patient_8 biolink:Case Family 5 Patient 8 FEMALE phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_1 biolink:Case Family 1 Patient 1 MALE phenopacket.store:DEPDC5.PMID_36067010_Family_1_Patient_2 biolink:Case Family 1 Patient 2 MALE phenopacket.store:DHCR24.PMID_29175559_Patient_6_Zolotushko_2011_IV5 biolink:Case Patient 6 Zolotushko 2011 IV5 FEMALE phenopacket.store:DHCR24.PMID_29175559_Patient_4_Zolotushko_2011_V4 biolink:Case Patient 4 Zolotushko 2011 V4 FEMALE phenopacket.store:DHCR24.PMID_29175559_Patient_8_Dias_2014 biolink:Case Patient 8 Dias 2014 FEMALE phenopacket.store:DHCR24.PMID_29175559_Patient_5_Zolotushko_2011_V7 biolink:Case Patient 5 Zolotushko 2011 V7 MALE phenopacket.store:DHCR24.PMID_29175559_Patient_2_Andersson_2002 biolink:Case Patient 2 Andersson 2002 MALE phenopacket.store:DHCR24.PMID_29175559_Present_patient biolink:Case Present patient MALE phenopacket.store:DHCR24.PMID_29175559_Patient_1_FitzPatrick_1998 biolink:Case Patient 1 FitzPatrick 1998 FEMALE phenopacket.store:DHCR24.PMID_29175559_Patient_3_Zolotushko_2011_V1 biolink:Case Patient 3 Zolotushko 2011 V1 MALE phenopacket.store:DHCR24.PMID_29175559_Patient_7_Schaaf_2011 biolink:Case Patient 7 Schaaf 2011 FEMALE phenopacket.store:DHCR24.PMID_29175559_Patient_9_Dias_2014 biolink:Case Patient 9 Dias 2014 FEMALE phenopacket.store:DHCR7.PMID_28503313_patient biolink:Case patient MALE phenopacket.store:DHX9.PMID_37369308_patient biolink:Case patient FEMALE phenopacket.store:DHX9.PMID_37467750_Individual_12 biolink:Case Individual 12 MALE phenopacket.store:DHX9.PMID_37467750_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:DHX9.PMID_37467750_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:DHX9.PMID_37467750_Individual_13 biolink:Case Individual 13 FEMALE phenopacket.store:DHX9.PMID_37467750_Individual_11 biolink:Case Individual 11 MALE phenopacket.store:DHX9.PMID_37467750_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:DHX9.PMID_37467750_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:DHX9.PMID_37467750_Individual_6 biolink:Case Individual 6 MALE phenopacket.store:DHX9.PMID_37467750_Individual_8 biolink:Case Individual 8 FEMALE phenopacket.store:DHX9.PMID_37467750_Individual_14 biolink:Case Individual 14 MALE phenopacket.store:DHX9.PMID_37467750_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:DHX9.PMID_37467750_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:DHX9.PMID_37467750_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:DHX9.PMID_37467750_Individual_9 biolink:Case Individual 9 FEMALE phenopacket.store:DLG5.PMID_32631816_Patient_IV_2–1 biolink:Case Patient IV 2–1 MALE phenopacket.store:DLG5.PMID_30791088_female biolink:Case female FEMALE phenopacket.store:DLL3.PMID_15200511_individual_II_6 biolink:Case individual II.6 FEMALE phenopacket.store:DLL3.PMID_15200511_individual_I_1 biolink:Case individual I.1 MALE phenopacket.store:DLL3.PMID_15200511_individual_II_5 biolink:Case individual II.5 FEMALE phenopacket.store:DNA2.PMID_37055165_Individual_F1_1 biolink:Case Individual F1.1 MALE phenopacket.store:DNA2.PMID_37055165_Individual_F2_1 biolink:Case Individual F2.1 FEMALE phenopacket.store:DNA2.PMID_37055165_Individual_F3_1 biolink:Case Individual F3.1 FEMALE phenopacket.store:DNA2.PMID_37055165_Individual_F5_1 biolink:Case Individual F5.1 MALE phenopacket.store:DNA2.PMID_37055165_Individual_F6_1 biolink:Case Individual F6.1 MALE phenopacket.store:DNA2.PMID_37055165_Individual_F4_1 biolink:Case Individual F4.1 FEMALE phenopacket.store:DNA2.PMID_37055165_Individual_F7_1 biolink:Case Individual F7.1 MALE phenopacket.store:DNM2.PMID_24465259_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:DNM2.PMID_24465259_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:DNM2.PMID_24465259_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:DNM2.PMID_24465259_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:DOCK11.PMID_36952639_Patient_F biolink:Case Patient F MALE phenopacket.store:DOCK11.PMID_36952639_Patient_A biolink:Case Patient A MALE phenopacket.store:DOCK11.PMID_37342957_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:DOCK11.PMID_36952639_Patient_E biolink:Case Patient E MALE phenopacket.store:DOCK11.PMID_36952639_Patient_D2 biolink:Case Patient D2 MALE phenopacket.store:DOCK11.PMID_37342957_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:DOCK11.PMID_37342957_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:DOCK11.PMID_36952639_Patient_B biolink:Case Patient B MALE phenopacket.store:DOCK11.PMID_36952639_Patient_G biolink:Case Patient G MALE phenopacket.store:DOCK11.PMID_37342957_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:DOCK11.PMID_36952639_Patient_D1 biolink:Case Patient D1 MALE phenopacket.store:DOCK11.PMID_36952639_Patient_C biolink:Case Patient C MALE phenopacket.store:DOCK8.PMID_29058101_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:DOCK8.PMID_19776401_Patient_6-1 biolink:Case Patient 6-1 MALE phenopacket.store:DOCK8.PMID_19776401_Patient_4-2 biolink:Case Patient 4-2 FEMALE phenopacket.store:DOCK8.PMID_19776401_Patient_5-1 biolink:Case Patient 5-1 FEMALE phenopacket.store:DOCK8.PMID_19776401_Patient_2-1 biolink:Case Patient 2-1 MALE phenopacket.store:DOCK8.PMID_19776401_Patient_5-2 biolink:Case Patient 5-2 FEMALE phenopacket.store:DOCK8.PMID_19776401_Patient_1-1 biolink:Case Patient 1-1 FEMALE phenopacket.store:DOCK8.PMID_19776401_Patient_8-1 biolink:Case Patient 8-1 FEMALE phenopacket.store:DOCK8.PMID_19776401_Patient_7-1 biolink:Case Patient 7-1 FEMALE phenopacket.store:DOCK8.PMID_29058101_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:DOCK8.PMID_19776401_Patient_8-2 biolink:Case Patient 8-2 MALE phenopacket.store:DOCK8.PMID_19776401_Patient_3-1 biolink:Case Patient 3-1 FEMALE phenopacket.store:DOCK8.PMID_19776401_Patient_4-1 biolink:Case Patient 4-1 MALE phenopacket.store:DRG1.PMID_37179472_Family_1_II_1 biolink:Case Family 1 II:1 MALE phenopacket.store:DRG1.PMID_37179472_Family_1_II_2 biolink:Case Family 1 II:2 FEMALE phenopacket.store:DRG1.PMID_37179472_Family_3_II_7 biolink:Case Family 3 II:7 MALE phenopacket.store:DRG1.PMID_37179472_Family_2II_6 biolink:Case Family 2II:6 FEMALE phenopacket.store:DVL1.PMID_25817016_Individual_016517 biolink:Case Individual 016517 MALE phenopacket.store:DVL1.PMID_25817014_Individual_2 biolink:Case Individual 2 phenopacket.store:DVL1.PMID_26924530_Individual_BAB8062 biolink:Case Individual BAB8062 MALE phenopacket.store:DVL1.PMID_25817014_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:DVL1.PMID_25817014_Individual_3 biolink:Case Individual 3 phenopacket.store:DVL1.PMID_35137569_proband biolink:Case proband MALE phenopacket.store:DVL1.PMID_25817016_Individual_016462 biolink:Case Individual 016462 FEMALE phenopacket.store:DVL1.PMID_35047859_Individual_BAB13797 biolink:Case Individual BAB13797 FEMALE phenopacket.store:DVL1.PMID_25817016_Individual_17604 biolink:Case Individual 17604 MALE phenopacket.store:DVL1.PMID_35047859_Individual_BAB13793 biolink:Case Individual BAB13793 FEMALE phenopacket.store:DVL1.PMID_25817016_Individual_BAB4073 biolink:Case Individual BAB4073 FEMALE phenopacket.store:DVL1.PMID_25817016_Individual_30526 biolink:Case Individual 30526 FEMALE phenopacket.store:DVL1.PMID_35047859_Individual_BAB10168 biolink:Case Individual BAB10168 MALE phenopacket.store:DVL1.PMID_25817016_Individual_BAB4878 biolink:Case Individual BAB4878 FEMALE phenopacket.store:DVL1.PMID_25817016_Individual_BAB5264 biolink:Case Individual BAB5264 MALE phenopacket.store:DVL1.PMID_25817016_Individual_016516 biolink:Case Individual 016516 MALE phenopacket.store:DYM.PMID_24300288_second_patient biolink:Case second patient FEMALE phenopacket.store:DYM.PMID_24300288_first_patient biolink:Case first patient FEMALE phenopacket.store:DYRK1A.PMID_26922654_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:DYRK1A.PMID_26922654_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:EDA.PMID_18702659_proband biolink:Case proband MALE phenopacket.store:EFEMP1.PMID_33807164_proband biolink:Case proband MALE phenopacket.store:EFEMP1.PMID_26162006_Individual_II_5 biolink:Case Individual II:5 MALE phenopacket.store:EFEMP1.PMID_26162006_Individual_II_7 biolink:Case Individual II:7 MALE phenopacket.store:EFEMP1.PMID_32006683_patients_IV_3 biolink:Case patients IV.3 MALE phenopacket.store:EFEMP1.PMID_26162006_Individual_I_1 biolink:Case Individual I:1 MALE phenopacket.store:EFEMP1.PMID_26162006_Individual_II_10 biolink:Case Individual II:10 MALE phenopacket.store:EFEMP1.PMID_26162006_Individual_II_4 biolink:Case Individual II:4 MALE phenopacket.store:EFEMP1.PMID_32006683_patients_IV_1 biolink:Case patients IV.1 FEMALE phenopacket.store:EFEMP1.PMID_31792352_proband biolink:Case proband MALE phenopacket.store:EFNB1.PMID_23335590_Subject_3301 biolink:Case Subject 3301 MALE phenopacket.store:EFNB1.PMID_23335590_Subject_1330 biolink:Case Subject 1330 MALE phenopacket.store:EFNB1.PMID_23335590_Subject_4271 biolink:Case Subject 4271 MALE phenopacket.store:EFNB1.PMID_23335590_Subject_3269 biolink:Case Subject 3269 MALE phenopacket.store:EFNB1.PMID_23335590_Subject_4354 biolink:Case Subject 4354 MALE phenopacket.store:EFNB1.PMID_23335590_Subject_4021 biolink:Case Subject 4021 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS13007 biolink:Case individual KS13007 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110073 biolink:Case individual KS110073 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110072 biolink:Case individual KS110072 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110024 biolink:Case individual VUSM110024 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110019_VUSM110007 biolink:Case individual KS110019-VUSM110007 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110005 biolink:Case individual Diagnostic110005 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110013 biolink:Case individual KS110013 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110049 biolink:Case individual KS110049 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110025 biolink:Case individual KS110025 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS130015 biolink:Case individual KS130015 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_A_father biolink:Case individual VUSM110017 A (father) MALE phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110066 biolink:Case individual Diagnostic110066 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110098_VUSM110044 biolink:Case individual KS110098-VUSM110044 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110006 biolink:Case individual KS110006 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110023 biolink:Case individual KS110023 MALE phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110004 biolink:Case individual Diagnostic110004 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110044 biolink:Case individual KS110044 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110088 biolink:Case individual KS110088 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110038 biolink:Case individual KS110038 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110001 biolink:Case individual Diagnostic110001 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110014 biolink:Case individual VUSM110014 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110068 biolink:Case individual KS110068 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110022 biolink:Case individual KS110022 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110014_VUSM110041 biolink:Case individual KS110014-VUSM110041 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110043_VUSM110019 biolink:Case individual KS110043-VUSM110019 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110076_VUSM110020 biolink:Case individual KS110076-VUSM110020 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110084 biolink:Case individual KS110084 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110089 biolink:Case individual KS110089 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110008 biolink:Case individual KS110008 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110063 biolink:Case individual KS110063 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110066 biolink:Case individual KS110066 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110042 biolink:Case individual VUSM110042 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110018 biolink:Case individual VUSM110018 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110055 biolink:Case individual KS110055 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110037 biolink:Case individual KS110037 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110001_VUSM110021 biolink:Case individual KS110001-VUSM110021 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110007 biolink:Case individual KS110007 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110070 biolink:Case individual KS110070 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110042 biolink:Case individual KS110042 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS13005 biolink:Case individual KS13005 MALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110058 biolink:Case individual VUSM110058 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110010 biolink:Case individual KS110010 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS130023 biolink:Case individual KS130023 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110024 biolink:Case individual KS110024 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110015 biolink:Case individual KS110015 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110060 biolink:Case individual KS110060 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110083 biolink:Case individual KS110083 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110057 biolink:Case individual KS110057 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS13003 biolink:Case individual KS13003 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110016 biolink:Case individual KS110016 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110077_VUSM110020 biolink:Case individual KS110077-VUSM110020 MALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110059 biolink:Case individual VUSM110059 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110058 biolink:Case individual KS110058 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110021 biolink:Case individual KS110021 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_mother biolink:Case individual VUSM110056 (mother) FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110012 biolink:Case individual KS110012 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110028 biolink:Case individual KS110028 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110071 biolink:Case individual KS110071 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110056_child biolink:Case individual VUSM110056 (child) FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110002 biolink:Case individual Diagnostic110002 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110053 biolink:Case individual KS110053 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110050 biolink:Case individual KS110050 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110034 biolink:Case individual KS110034 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110004 biolink:Case individual KS110004 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110069 biolink:Case individual KS110069 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS13004 biolink:Case individual KS13004 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110026_VUSM110015 biolink:Case individual KS110026-VUSM110015 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110103 biolink:Case individual KS110103 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS13006 biolink:Case individual KS13006 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110064 biolink:Case individual KS110064 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110045 biolink:Case individual KS110045 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS130012 biolink:Case individual KS130012 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110104 biolink:Case individual KS110104 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110046 biolink:Case individual VUSM110046 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110002 biolink:Case individual KS110002 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110025 biolink:Case individual VUSM110025 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110032 biolink:Case individual KS110032 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110011 biolink:Case individual KS110011 MALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110048 biolink:Case individual VUSM110048 MALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110022 biolink:Case individual VUSM110022 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110051 biolink:Case individual KS110051 MALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110013 biolink:Case individual VUSM110013 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110075_VUSM110020 biolink:Case individual KS110075-VUSM110020 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110030 biolink:Case individual KS110030 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110027 biolink:Case individual KS110027 MALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110043 biolink:Case individual VUSM110043 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110099 biolink:Case individual KS110099 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110006 biolink:Case individual Diagnostic110006 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110087 biolink:Case individual KS110087 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS130020 biolink:Case individual KS130020 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110056 biolink:Case individual KS110056 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110018 biolink:Case individual KS110018 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110090 biolink:Case individual KS110090 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110047 biolink:Case individual VUSM110047 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110100 biolink:Case individual KS110100 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110017 biolink:Case individual KS110017 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110047 biolink:Case individual KS110047 MALE phenopacket.store:EHMT1.PMID_39013458_individual_Diagnostic110003 biolink:Case individual Diagnostic110003 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110005 biolink:Case individual KS110005 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110079 biolink:Case individual KS110079 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110040 biolink:Case individual KS110040 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110074 biolink:Case individual KS110074 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110017_B_daugther biolink:Case individual VUSM110017 B (daugther) FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110030 biolink:Case individual VUSM110030 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110041 biolink:Case individual KS110041 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110105 biolink:Case individual KS110105 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110086 biolink:Case individual KS110086 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS130014 biolink:Case individual KS130014 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110003_VUSM110009 biolink:Case individual KS110003-VUSM110009 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110067 biolink:Case individual KS110067 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110036_VUSM110008 biolink:Case individual KS110036-VUSM110008 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110039 biolink:Case individual KS110039 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110048 biolink:Case individual KS110048 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110061 biolink:Case individual KS110061 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110020 biolink:Case individual KS110020 MALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110029 biolink:Case individual VUSM110029 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110059 biolink:Case individual KS110059 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110009 biolink:Case individual KS110009 MALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110012 biolink:Case individual VUSM110012 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110091 biolink:Case individual KS110091 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110040 biolink:Case individual VUSM110040 MALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110033 biolink:Case individual KS110033 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110060 biolink:Case individual VUSM110060 FEMALE phenopacket.store:EHMT1.PMID_39013458_individual_KS110092 biolink:Case individual KS110092 MALE phenopacket.store:EHMT1.PMID_39013458_individual_VUSM110023 biolink:Case individual VUSM110023 FEMALE phenopacket.store:EIF4A2.PMID_36528028_Individual_12 biolink:Case Individual 12 MALE phenopacket.store:EIF4A2.PMID_36528028_Individual_14 biolink:Case Individual 14 FEMALE phenopacket.store:EIF4A2.PMID_36528028_Individual_13 biolink:Case Individual 13 MALE phenopacket.store:EIF4A2.PMID_36528028_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:EIF4A2.PMID_36528028_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:EIF4A2.PMID_36528028_Individual_11 biolink:Case Individual 11 FEMALE phenopacket.store:EIF4A2.PMID_36528028_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:EIF4A2.PMID_36528028_Individual_6 biolink:Case Individual 6 MALE phenopacket.store:EIF4A2.PMID_36528028_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:EIF4A2.PMID_36528028_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:EIF4A2.PMID_36528028_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:EIF4A2.PMID_36528028_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:EIF4A2.PMID_36528028_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:EIF4A2.PMID_36528028_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:EIF4A2.PMID_36528028_Individual_3 biolink:Case Individual 3 FEMALE phenopacket.store:EP300.PMID_29506490_Patient_57 biolink:Case Patient #57 FEMALE phenopacket.store:EP300.PMID_29506490_Patient_67 biolink:Case Patient #67 FEMALE phenopacket.store:EP300.PMID_29506490_Patient_45_daughter biolink:Case Patient #45 daughter FEMALE phenopacket.store:EP300.PMID_29506490_Patient_27 biolink:Case Patient #27 MALE phenopacket.store:EP300.PMID_29506490_Patient_47 biolink:Case Patient #47 MALE phenopacket.store:EP300.PMID_29506490_Patient_42 biolink:Case Patient #42 MALE phenopacket.store:EP300.PMID_29506490_Patient_11 biolink:Case Patient #11 MALE phenopacket.store:EP300.PMID_29506490_Patient_45_mother biolink:Case Patient #45 mother FEMALE phenopacket.store:EP300.PMID_29506490_Patient_38 biolink:Case Patient #38 MALE phenopacket.store:EPB42.PMID_7803799_proband biolink:Case proband FEMALE phenopacket.store:EPG5.PMID_23222957_Family_5_5.2 biolink:Case Family 5 5.2 phenopacket.store:EPG5.PMID_23222957_Family_10_10.1 biolink:Case Family 10 10.1 phenopacket.store:EPG5.PMID_23222957_Family_1_1.2 biolink:Case Family 1 1.2 phenopacket.store:EPG5.PMID_23222957_Family_13_13.1 biolink:Case Family 13 13.1 phenopacket.store:EPG5.PMID_23222957_Family_8_8.1 biolink:Case Family 8 8.1 phenopacket.store:EPG5.PMID_23222957_Family_12_12.1 biolink:Case Family 12 12.1 phenopacket.store:EPG5.PMID_23222957_Family_4_4.1 biolink:Case Family 4 4.1 phenopacket.store:EPG5.PMID_23222957_Family_8_8.2 biolink:Case Family 8 8.2 phenopacket.store:EPG5.PMID_23222957_Family_6_6.1 biolink:Case Family 6 6.1 phenopacket.store:EPG5.PMID_23222957_Family_2_2.1 biolink:Case Family 2 2.1 phenopacket.store:EPG5.PMID_23222957_Family_5_5.1 biolink:Case Family 5 5.1 phenopacket.store:EPG5.PMID_23222957_Family_7_7.1 biolink:Case Family 7 7.1 phenopacket.store:EPG5.PMID_23222957_Family_1_1.1 biolink:Case Family 1 1.1 phenopacket.store:EPG5.PMID_23222957_Family_9_9.1 biolink:Case Family 9 9.1 phenopacket.store:EPG5.PMID_25331754_patient biolink:Case patient MALE phenopacket.store:EPG5.PMID_23222957_Family_11_11.1 biolink:Case Family 11 11.1 phenopacket.store:EPG5.PMID_23222957_Family_3_3.1 biolink:Case Family 3 3.1 phenopacket.store:ERCC3.PMID_9012405_index_case_TTD6VI biolink:Case index case TTD6VI MALE phenopacket.store:ERCC3.PMID_9012405_sister_TTD4VI biolink:Case sister TTD4VI FEMALE phenopacket.store:ERCC6.PMID_30113454_index biolink:Case index FEMALE phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_8Y1M biolink:Case Family 4 individual 8Y1M FEMALE phenopacket.store:ERCC8.PMID_30200888_Patient_A_III_4 biolink:Case Patient A III.4 MALE phenopacket.store:ERCC8.PMID_16865293_Family_2_individual_9Y11M biolink:Case Family 2 individual 9Y11M MALE phenopacket.store:ERCC8.PMID_16865293_Family_6_individual_5Y5M biolink:Case Family 6 individual 5Y5M MALE phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_12Y biolink:Case Family 3 individual 12Y MALE phenopacket.store:ERCC8.PMID_16865293_Family_3_individual_10Y4M biolink:Case Family 3 individual 10Y4M FEMALE phenopacket.store:ERCC8.PMID_16865293_Family_5_individual_10Y11M biolink:Case Family 5 individual 10Y11M FEMALE phenopacket.store:ERCC8.PMID_30200888_Patient_C_VI_2 biolink:Case Patient C VI.2 FEMALE phenopacket.store:ERCC8.PMID_16865293_Family_1_individual_3Y8M biolink:Case Family 1 individual 3Y8M MALE phenopacket.store:ERCC8.PMID_16865293_Family_4_individual_7Y1M biolink:Case Family 4 individual 7Y1M FEMALE phenopacket.store:ERF.PMID_30569521_proband biolink:Case proband MALE phenopacket.store:ERF.PMID_27738187_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:ERF.PMID_27738187_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:ERF.PMID_27738187_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:ERF.PMID_27738187_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:ERF.PMID_27738187_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:ERI1.PMID_37352860_Individual_1A biolink:Case Individual 1A MALE phenopacket.store:ERI1.PMID_37352860_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:ERI1.PMID_36208065_7-year-old_female biolink:Case 7-year-old female FEMALE phenopacket.store:ERI1.PMID_28488351_male_patient biolink:Case male patient MALE phenopacket.store:ERI1.PMID_37352860_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:ERI1.PMID_37352860_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:ERI1.PMID_37352860_Individual_1B biolink:Case Individual 1B FEMALE phenopacket.store:ERI1.PMID_37352860_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:ERI1.PMID_37352860_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:ERI1.PMID_37352860_Individual_6 biolink:Case Individual 6 MALE phenopacket.store:ESAM.PMID_36996813_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:ESAM.PMID_36996813_Individual_3 biolink:Case Individual 3 FEMALE phenopacket.store:ESAM.PMID_36996813_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:ESAM.PMID_36996813_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:ESAM.PMID_36996813_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:ESAM.PMID_36996813_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:ESAM.PMID_36996813_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:ESAM.PMID_36996813_Individual_11 biolink:Case Individual 11 phenopacket.store:ESAM.PMID_36996813_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:ESAM.PMID_36996813_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:ESAM.PMID_36996813_Individual_13 biolink:Case Individual 13 MALE phenopacket.store:ESAM.PMID_36996813_Individual_12 biolink:Case Individual 12 FEMALE phenopacket.store:ESAM.PMID_36996813_Individual_6 biolink:Case Individual 6 MALE phenopacket.store:ESAM.PMID_36996813_Individual_KCHYD24-1 biolink:Case Individual KCHYD24-1 FEMALE phenopacket.store:EXTL3.PMID_28132690_Family_B_II_1 biolink:Case Family B II-1 MALE phenopacket.store:EXTL3.PMID_28132690_Family_D_III_1 biolink:Case Family D III-1 MALE phenopacket.store:EXTL3.PMID_28331220_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:EXTL3.PMID_28132690_Family_C_II_1 biolink:Case Family C II-1 FEMALE phenopacket.store:EXTL3.PMID_28132690_Family_B_II_2 biolink:Case Family B II-2 FEMALE phenopacket.store:EXTL3.PMID_28132690_Family_D_III_2 biolink:Case Family D III-2 FEMALE phenopacket.store:EXTL3.PMID_28148688_P2 biolink:Case P2 FEMALE phenopacket.store:EXTL3.PMID_28148688_P1 biolink:Case P1 MALE phenopacket.store:EXTL3.PMID_28148688_P3 biolink:Case P3 FEMALE phenopacket.store:EXTL3.PMID_28132690_Family_A_II_1 biolink:Case Family A II-1 FEMALE phenopacket.store:EXTL3.PMID_28331220_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:EXTL3.PMID_28132690_Family_E_II_1 biolink:Case Family E II-1 MALE phenopacket.store:EXTL3.PMID_28132690_Family_E_II_2 biolink:Case Family E II-2 MALE phenopacket.store:EXTL3.PMID_28132690_Family_D_IV_1 biolink:Case Family D IV-1 FEMALE phenopacket.store:EZH1.PMID_37433783_P10 biolink:Case P10 MALE phenopacket.store:EZH1.PMID_37433783_P2 biolink:Case P2 phenopacket.store:EZH1.PMID_37433783_P7 biolink:Case P7 MALE phenopacket.store:EZH1.PMID_37433783_P14 biolink:Case P14 FEMALE phenopacket.store:EZH1.PMID_37433783_P12 biolink:Case P12 FEMALE phenopacket.store:EZH1.PMID_37433783_P19 biolink:Case P19 MALE phenopacket.store:EZH1.PMID_37433783_P9 biolink:Case P9 FEMALE phenopacket.store:EZH1.PMID_37433783_P11 biolink:Case P11 FEMALE phenopacket.store:EZH1.PMID_37433783_P4 biolink:Case P4 MALE phenopacket.store:EZH1.PMID_37433783_P18 biolink:Case P18 FEMALE phenopacket.store:EZH1.PMID_37433783_P8 biolink:Case P8 MALE phenopacket.store:EZH1.PMID_37433783_P13 biolink:Case P13 FEMALE phenopacket.store:EZH1.PMID_37433783_P5 biolink:Case P5 MALE phenopacket.store:EZH1.PMID_37433783_P6 biolink:Case P6 FEMALE phenopacket.store:EZH1.PMID_37433783_P15 biolink:Case P15 FEMALE phenopacket.store:EZH1.PMID_37433783_P17 biolink:Case P17 FEMALE phenopacket.store:EZH1.PMID_37433783_P16 biolink:Case P16 MALE phenopacket.store:EZH1.PMID_37433783_P3 biolink:Case P3 MALE phenopacket.store:EZH1.PMID_37433783_P1 biolink:Case P1 FEMALE phenopacket.store:FANCC.PMID_31044565_proband biolink:Case proband MALE phenopacket.store:FANCC.PMID_16429406_second_patient biolink:Case second patient phenopacket.store:FANCC.PMID_16429406_first_patient biolink:Case first patient FEMALE phenopacket.store:FANCC.PMID_22701786_proband biolink:Case proband FEMALE phenopacket.store:FANCI.PMID_26590883_Patient__NCI‐309‐1 biolink:Case Patient NCI‐309‐1 FEMALE phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐82‐1 biolink:Case Patient NCI‐82‐1 FEMALE phenopacket.store:FANCI.PMID_17460694_F010191 biolink:Case F010191 phenopacket.store:FANCI.PMID_26590883_Patient_NCI‐253‐1 biolink:Case Patient NCI‐253‐1 FEMALE phenopacket.store:FBLN5.PMID_12189163_V:6 biolink:Case V:6 FEMALE phenopacket.store:FBLN5.PMID_12189163_Sib_2 biolink:Case Sib 2 FEMALE phenopacket.store:FBLN5.PMID_12189163_Sib_3 biolink:Case Sib 3 MALE phenopacket.store:FBLN5.PMID_24962763_4-year-old_Burmese_girl biolink:Case 4-year-old Burmese girl FEMALE phenopacket.store:FBLN5.PMID_12189163_Sib_1 biolink:Case Sib 1 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_D15 biolink:Case Patient D15 MALE phenopacket.store:FBN1.PMID_21683322_GD_Family_6 biolink:Case GD Family 6 phenopacket.store:FBN1.PMID_12446365_RWT biolink:Case RWT MALE phenopacket.store:FBN1.PMID_31774634_XH601 biolink:Case XH601 FEMALE phenopacket.store:FBN1.PMID_11175294_Patient_D54 biolink:Case Patient D54 MALE phenopacket.store:FBN1.PMID_8188302_III_4 biolink:Case III:4 MALE phenopacket.store:FBN1.PMID_21683322_AD_Family_25 biolink:Case AD Family 25 phenopacket.store:FBN1.PMID_22539873_II_1 biolink:Case II-1 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_D31 biolink:Case Patient D31 MALE phenopacket.store:FBN1.PMID_11175294_Patient_D1 biolink:Case Patient D1 MALE phenopacket.store:FBN1.PMID_20375004_1_III_2 biolink:Case 1-III:2 FEMALE phenopacket.store:FBN1.PMID_22219643_II_4 biolink:Case II:4 FEMALE phenopacket.store:FBN1.PMID_20375004_1_II_1 biolink:Case 1-II:1 MALE phenopacket.store:FBN1.PMID_31527767_III_9 biolink:Case III.9 MALE phenopacket.store:FBN1.PMID_21683322_GD_Family_1 biolink:Case GD Family 1 phenopacket.store:FBN1.PMID_12203992_Patient_D55 biolink:Case Patient D55 MALE phenopacket.store:FBN1.PMID_21683322_AD_Family_26 biolink:Case AD Family 26 phenopacket.store:FBN1.PMID_32404357_III_2 biolink:Case III:2 FEMALE phenopacket.store:FBN1.PMID_20375004_4_II_1 biolink:Case 4-II:1 MALE phenopacket.store:FBN1.PMID_11175294_Patient_B15 biolink:Case Patient B15 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_D5 biolink:Case Patient D5 MALE phenopacket.store:FBN1.PMID_21683322_GD_Family_3 biolink:Case GD Family 3 phenopacket.store:FBN1.PMID_21683322_AD_Family_27_a biolink:Case AD Family 27-a phenopacket.store:FBN1.PMID_12203992_Patient_D16 biolink:Case Patient D16 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_B1 biolink:Case Patient B1 MALE phenopacket.store:FBN1.PMID_8188302_IV_1 biolink:Case IV:1 MALE phenopacket.store:FBN1.PMID_33576469_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:FBN1.PMID_11175294_Patient_B22 biolink:Case Patient B22 MALE phenopacket.store:FBN1.PMID_12203992_Patient_B62 biolink:Case Patient B62 MALE phenopacket.store:FBN1.PMID_10756346_Patient_B32 biolink:Case Patient B32 MALE phenopacket.store:FBN1.PMID_11175294_Patient_D13 biolink:Case Patient D13 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_B45 biolink:Case Patient B45 FEMALE phenopacket.store:FBN1.PMID_31527767_III_12 biolink:Case III.12 MALE phenopacket.store:FBN1.PMID_12203992_Patient_D7 biolink:Case Patient D7 MALE phenopacket.store:FBN1.PMID_12203992_Patient_D37 biolink:Case Patient D37 MALE phenopacket.store:FBN1.PMID_21594992_20_year_old_man biolink:Case 20-year-old man MALE phenopacket.store:FBN1.PMID_22736615_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:FBN1.PMID_21683322_GD_Family_7 biolink:Case GD Family 7 phenopacket.store:FBN1.PMID_22219643_III_14 biolink:Case III:14 FEMALE phenopacket.store:FBN1.PMID_22736615_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:FBN1.PMID_21683322_GD_Family_13 biolink:Case GD Family 13 phenopacket.store:FBN1.PMID_20979188_patient biolink:Case patient FEMALE phenopacket.store:FBN1.PMID_21683322_AD_Family_29 biolink:Case AD Family 29 phenopacket.store:FBN1.PMID_21683322_GD_Family_17 biolink:Case GD Family 17 phenopacket.store:FBN1.PMID_22219643_II_12 biolink:Case II:12 FEMALE phenopacket.store:FBN1.PMID_21683322_AD_Family_21 biolink:Case AD Family 21 phenopacket.store:FBN1.PMID_33576469_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:FBN1.PMID_21683322_AD_Family_24 biolink:Case AD Family 24 phenopacket.store:FBN1.PMID_21683322_GD_Family_8 biolink:Case GD Family 8 phenopacket.store:FBN1.PMID_33576469_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:FBN1.PMID_32404357_III_1 biolink:Case III:1 MALE phenopacket.store:FBN1.PMID_31527767_III_10 biolink:Case III.10 FEMALE phenopacket.store:FBN1.PMID_11175294_Patient_D36 biolink:Case Patient D36 FEMALE phenopacket.store:FBN1.PMID_21683322_GD_Family_12 biolink:Case GD Family 12 phenopacket.store:FBN1.PMID_11175294_Patient_D27 biolink:Case Patient D27 MALE phenopacket.store:FBN1.PMID_10756346_Patient_D22 biolink:Case Patient D22 MALE phenopacket.store:FBN1.PMID_12203992_Patient_B43 biolink:Case Patient B43 MALE phenopacket.store:FBN1.PMID_10756346_Patient_D46 biolink:Case Patient D46 MALE phenopacket.store:FBN1.PMID_33576469_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:FBN1.PMID_22219643_II_5 biolink:Case II:5 MALE phenopacket.store:FBN1.PMID_21683322_GD_Family_9 biolink:Case GD Family 9 phenopacket.store:FBN1.PMID_12203992_Patient_D10 biolink:Case Patient D10 FEMALE phenopacket.store:FBN1.PMID_37845262_a_Japanese_patient biolink:Case a Japanese patient FEMALE phenopacket.store:FBN1.PMID_21683322_GD_Family_18 biolink:Case GD Family 18 phenopacket.store:FBN1.PMID_24613577_16_year_old_girl biolink:Case 16-year-old girl FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_D2 biolink:Case Patient D2 FEMALE phenopacket.store:FBN1.PMID_31527767_II_6 biolink:Case II.6 FEMALE phenopacket.store:FBN1.PMID_22219643_III_9 biolink:Case III:9 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_B37 biolink:Case Patient B37 FEMALE phenopacket.store:FBN1.PMID_21683322_AD_Family_22_a biolink:Case AD Family 22-a phenopacket.store:FBN1.PMID_12203992_Patient_B3 biolink:Case Patient B3 FEMALE phenopacket.store:FBN1.PMID_31527767_III_11 biolink:Case III.11 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_B46 biolink:Case Patient B46 MALE phenopacket.store:FBN1.PMID_21683322_GD_Family_11 biolink:Case GD Family 11 phenopacket.store:FBN1.PMID_31527767_III_7 biolink:Case III.7 MALE phenopacket.store:FBN1.PMID_24665001_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:FBN1.PMID_32404357_I_2 biolink:Case I:2 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_B19 biolink:Case Patient B19 MALE phenopacket.store:FBN1.PMID_24039054_propositus biolink:Case propositus FEMALE phenopacket.store:FBN1.PMID_24665001_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_D26 biolink:Case Patient D26 FEMALE phenopacket.store:FBN1.PMID_20375004_3_II_2 biolink:Case 3-II:2 FEMALE phenopacket.store:FBN1.PMID_21683322_GD_Family_4 biolink:Case GD Family 4 phenopacket.store:FBN1.PMID_12203992_Patient_D30 biolink:Case Patient D30 MALE phenopacket.store:FBN1.PMID_33576469_Patient_8 biolink:Case Patient 8 FEMALE phenopacket.store:FBN1.PMID_11175294_Patient_D60 biolink:Case Patient D60 FEMALE phenopacket.store:FBN1.PMID_21683322_AD_Family_23 biolink:Case AD Family 23 phenopacket.store:FBN1.PMID_32404357_II_2 biolink:Case II:2 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_B60 biolink:Case Patient B60 MALE phenopacket.store:FBN1.PMID_8188302_IV_3 biolink:Case IV:3 FEMALE phenopacket.store:FBN1.PMID_11175294_Patient_B7 biolink:Case Patient B7 FEMALE phenopacket.store:FBN1.PMID_21683322_AD_Family_22_c biolink:Case AD Family 22-c phenopacket.store:FBN1.PMID_21683322_GD_Family_2 biolink:Case GD Family 2 phenopacket.store:FBN1.PMID_12203992_Patient_D21 biolink:Case Patient D21 MALE phenopacket.store:FBN1.PMID_12203992_Patient_D19 biolink:Case Patient D19 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_D62 biolink:Case Patient D62 FEMALE phenopacket.store:FBN1.PMID_21683322_GD_Family_10 biolink:Case GD Family 10 phenopacket.store:FBN1.PMID_10756346_Patient_B55 biolink:Case Patient B55 MALE phenopacket.store:FBN1.PMID_12203992_Patient_D63 biolink:Case Patient D63 FEMALE phenopacket.store:FBN1.PMID_22219643_IV_6 biolink:Case IV:6 MALE phenopacket.store:FBN1.PMID_20375004_2_III_1 biolink:Case 2-III:1 MALE phenopacket.store:FBN1.PMID_22219643_II_13 biolink:Case II:13 MALE phenopacket.store:FBN1.PMID_21594993_patient biolink:Case patient FEMALE phenopacket.store:FBN1.PMID_21683322_GD_Family_14 biolink:Case GD Family 14 phenopacket.store:FBN1.PMID_8188302_III_2 biolink:Case III:2 MALE phenopacket.store:FBN1.PMID_12203992_Patient_D59 biolink:Case Patient D59 FEMALE phenopacket.store:FBN1.PMID_11175294_Patient_B35 biolink:Case Patient B35 FEMALE phenopacket.store:FBN1.PMID_20375004_3_I_1 biolink:Case 3-I:1 FEMALE phenopacket.store:FBN1.PMID_21683322_AD_Family_27_b biolink:Case AD Family 27-b phenopacket.store:FBN1.PMID_12203992_Patient_B9 biolink:Case Patient B9 MALE phenopacket.store:FBN1.PMID_21683322_AD_Family_20 biolink:Case AD Family 20 phenopacket.store:FBN1.PMID_12203992_Patient_B51 biolink:Case Patient B51 MALE phenopacket.store:FBN1.PMID_12446365_JL biolink:Case JL FEMALE phenopacket.store:FBN1.PMID_22736615_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:FBN1.PMID_22736615_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:FBN1.PMID_11175294_Patient_B47 biolink:Case Patient B47 FEMALE phenopacket.store:FBN1.PMID_20375004_3_II_3 biolink:Case 3-II:3 FEMALE phenopacket.store:FBN1.PMID_33576469_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:FBN1.PMID_10756346_Patient_B13 biolink:Case Patient B13 MALE phenopacket.store:FBN1.PMID_8188302_III_5 biolink:Case III:5 FEMALE phenopacket.store:FBN1.PMID_12446365_OP biolink:Case OP MALE phenopacket.store:FBN1.PMID_11175294_Patient_B27 biolink:Case Patient B27 FEMALE phenopacket.store:FBN1.PMID_10756346_Patient_B73 biolink:Case Patient B73 FEMALE phenopacket.store:FBN1.PMID_21683322_AD_Family_22_b biolink:Case AD Family 22-b phenopacket.store:FBN1.PMID_12446365_BM biolink:Case BM FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_D67 biolink:Case Patient D67 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_B65 biolink:Case Patient B65 MALE phenopacket.store:FBN1.PMID_12203992_Patient_B52 biolink:Case Patient B52 FEMALE phenopacket.store:FBN1.PMID_21683322_GD_Family_5 biolink:Case GD Family 5 phenopacket.store:FBN1.PMID_21683322_GD_Family_15 biolink:Case GD Family 15 phenopacket.store:FBN1.PMID_33576469_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:FBN1.PMID_33576469_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:FBN1.PMID_12446365_VW biolink:Case VW MALE phenopacket.store:FBN1.PMID_12203992_Patient_B79 biolink:Case Patient B79 MALE phenopacket.store:FBN1.PMID_21683322_GD_Family_19 biolink:Case GD Family 19 phenopacket.store:FBN1.PMID_8188302_IV_2 biolink:Case IV:2 MALE phenopacket.store:FBN1.PMID_31527767_II_5 biolink:Case II.5 FEMALE phenopacket.store:FBN1.PMID_12203992_Patient_D40 biolink:Case Patient D40 FEMALE phenopacket.store:FBN1.PMID_21683322_GD_Family_16 biolink:Case GD Family 16 phenopacket.store:FBN1.PMID_32404357_II_3 biolink:Case II:3 MALE phenopacket.store:FBN1.PMID_21683322_AD_Family_28 biolink:Case AD Family 28 phenopacket.store:FBN1.PMID_12203992_Patient_B18 biolink:Case Patient B18 FEMALE phenopacket.store:FBN1.PMID_32404357_II_1 biolink:Case II:1 MALE phenopacket.store:FBN1.PMID_20375004_2_IV_2 biolink:Case 2-IV:2 FEMALE phenopacket.store:FBN2.PMID_11754102_patient_GD889 biolink:Case patient GD889 MALE phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1347 biolink:Case Belleh Patient CF1347 FEMALE phenopacket.store:FBN2.PMID_8900230_Wang_et_al_1996_Patient_CS961588 biolink:Case Wang et al 1996 Patient CS961588 FEMALE phenopacket.store:FBN2.PMID_9714438_Park_p253 biolink:Case Park p253 FEMALE phenopacket.store:FBN2.PMID_9714438_Park_p103_daughter_of_p279 biolink:Case Park p103 (daughter of p279) FEMALE phenopacket.store:FBN2.PMID_11754102_patient_GD911 biolink:Case patient GD911 MALE phenopacket.store:FBN2.PMID_30147916_proband_IV_7 biolink:Case proband (IV:7) FEMALE phenopacket.store:FBN2.PMID_9106527_Putnam_1997_Patient_P319 biolink:Case Putnam 1997 Patient P319 FEMALE phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p262 biolink:Case Putnam 1995 p262 phenopacket.store:FBN2.PMID_9199560_Maslen_1997_Patient_CS971736 biolink:Case Maslen 1997 Patient CS971736 FEMALE phenopacket.store:FBN2.PMID_9714438_Park_p279 biolink:Case Park p279 MALE phenopacket.store:FBN2.PMID_7493032_Putnam_1995_p260 biolink:Case Putnam 1995 p260 phenopacket.store:FBN2.PMID_9737771_Babcock_1998 biolink:Case Babcock 1998 FEMALE phenopacket.store:FBN2.PMID_10797416_Belleh_Patient_CF1349 biolink:Case Belleh Patient CF1349 FEMALE phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_3 biolink:Case Family 2 Case 3 MALE phenopacket.store:FBXL4.PMID_30771478_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_20_Case_19 biolink:Case Family 20 Case 19 MALE phenopacket.store:FBXL4.PMID_27743463_S6 biolink:Case S6 FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_23_Case_15 biolink:Case Family 23 Case 15 FEMALE phenopacket.store:FBXL4.PMID_27182039_3_5_year_old_boy biolink:Case 3.5-year-old boy MALE phenopacket.store:FBXL4.PMID_28940506_Family_23_Individual_29 biolink:Case Family 23 Individual 29 FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_12 biolink:Case Family 19 Case 12 FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_11_Case_7_Gai_2013_case_8 biolink:Case Family 11 Case 7 (Gai 2013 case 8) FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_25_Case_8 biolink:Case Family 25 Case 8 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_22 biolink:Case Family 16 Individual 22 MALE phenopacket.store:FBXL4.PMID_28940506_Family_21_Individual_27 biolink:Case Family 21 Individual 27 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_12_Individual_13 biolink:Case Family 12 Individual 13 MALE phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_2 biolink:Case Family 2 Case 2 MALE phenopacket.store:FBXL4.PMID_25868664_Family_17_Case_17 biolink:Case Family 17 Case 17 MALE phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_1 biolink:Case Family 1 Individual 1 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_30_Individual_36 biolink:Case Family 30 Individual 36 FEMALE phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S2 biolink:Case Family 5 case S2 MALE phenopacket.store:FBXL4.PMID_31969900_S2 biolink:Case S2 MALE phenopacket.store:FBXL4.PMID_28940506_Family_11_Individual_12 biolink:Case Family 11 Individual 12 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_28_Individual_34 biolink:Case Family 28 Individual 34 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_10_Individual_11 biolink:Case Family 10 Individual 11 MALE phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_20 biolink:Case Family 15 Individual 20 MALE phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V4 biolink:Case Family 5 case V4 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_19_Individual_25 biolink:Case Family 19 Individual 25 FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_16 biolink:Case Family 15 Case 16 MALE phenopacket.store:FBXL4.PMID_25868664_Family_13_Case_10 biolink:Case Family 13 Case 10 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_29_Individual_35 biolink:Case Family 29 Individual 35 MALE phenopacket.store:FBXL4.PMID_25868664_Family_24_Case_11 biolink:Case Family 24 Case 11 MALE phenopacket.store:FBXL4.PMID_28940506_Family_6_Individual_7 biolink:Case Family 6 Individual 7 FEMALE phenopacket.store:FBXL4.PMID_23993194_Family_3_Case_5 biolink:Case Family 3 Case 5 FEMALE phenopacket.store:FBXL4.PMID_27743463_S8 biolink:Case S8 MALE phenopacket.store:FBXL4.PMID_32779419_patient biolink:Case patient MALE phenopacket.store:FBXL4.PMID_27743463_S2 biolink:Case S2 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_3_Individual_4 biolink:Case Family 3 Individual 4 MALE phenopacket.store:FBXL4.PMID_28940506_Family_16_Individual_21 biolink:Case Family 16 Individual 21 MALE phenopacket.store:FBXL4.PMID_25868664_Family_22_Case_18_Bonnen_case_S3 biolink:Case Family 22 Case 18 (Bonnen case S3) MALE phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_17 biolink:Case Family 14 Individual 17 FEMALE phenopacket.store:FBXL4.PMID_27099744_Family_27 biolink:Case Family 27 MALE phenopacket.store:FBXL4.PMID_25868664_Family_16_Case_21 biolink:Case Family 16 Case 21 FEMALE phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V8 biolink:Case Family 5 case V8 MALE phenopacket.store:FBXL4.PMID_27290639_case_52 biolink:Case case 52 FEMALE phenopacket.store:FBXL4.PMID_27743463_S1 biolink:Case S1 MALE phenopacket.store:FBXL4.PMID_28940506_Family_27_Individual_33 biolink:Case Family 27 Individual 33 MALE phenopacket.store:FBXL4.PMID_27743463_S10 biolink:Case S10 MALE phenopacket.store:FBXL4.PMID_25868664_Family_21_Case_6 biolink:Case Family 21 Case 6 MALE phenopacket.store:FBXL4.PMID_28940506_Family_7_Individual_8 biolink:Case Family 7 Individual 8 MALE phenopacket.store:FBXL4.PMID_28940506_Family_20_Individual_26 biolink:Case Family 20 Individual 26 FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_10_Case_5 biolink:Case Family 10 Case 5 MALE phenopacket.store:FBXL4.PMID_28940506_Family_4_Individual_5 biolink:Case Family 4 Individual 5 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_14 biolink:Case Family 13 Individual 14 MALE phenopacket.store:FBXL4.PMID_28940506_Family_14_Individual_18 biolink:Case Family 14 Individual 18 MALE phenopacket.store:FBXL4.PMID_27743463_S3 biolink:Case S3 MALE phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_16 biolink:Case Family 13 Individual 16 FEMALE phenopacket.store:FBXL4.PMID_31969900_S1 biolink:Case S1 MALE phenopacket.store:FBXL4.PMID_28940506_Family_24_Individual_30 biolink:Case Family 24 Individual 30 MALE phenopacket.store:FBXL4.PMID_30804983_9_month_old_girl biolink:Case 9 month-old girl FEMALE phenopacket.store:FBXL4.PMID_27743463_S4 biolink:Case S4 FEMALE phenopacket.store:FBXL4.PMID_27743463_S9 biolink:Case S9 MALE phenopacket.store:FBXL4.PMID_23993194_Family_4_Case_6 biolink:Case Family 4 Case 6 MALE phenopacket.store:FBXL4.PMID_34602956_34602956 biolink:Case 34602956 MALE phenopacket.store:FBXL4.PMID_27290639_case_55 biolink:Case case 55 FEMALE phenopacket.store:FBXL4.PMID_31442532_P2 biolink:Case P2 MALE phenopacket.store:FBXL4.PMID_23993194_Family_5_case_IV5 biolink:Case Family 5 case IV5 MALE phenopacket.store:FBXL4.PMID_23993194_Family_5_case_S1 biolink:Case Family 5 case S1 MALE phenopacket.store:FBXL4.PMID_25868664_Family_15_Case_14 biolink:Case Family 15 Case 14 MALE phenopacket.store:FBXL4.PMID_26404457_subject biolink:Case subject FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_8_Individual_9 biolink:Case Family 8 Individual 9 MALE phenopacket.store:FBXL4.PMID_23993194_Family_5_case_V3 biolink:Case Family 5 case V3 MALE phenopacket.store:FBXL4.PMID_28940506_Family_25_Individual_31 biolink:Case Family 25 Individual 31 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_18_Individual_24 biolink:Case Family 18 Individual 24 MALE phenopacket.store:FBXL4.PMID_27290639_Case_3 biolink:Case Case 3 MALE phenopacket.store:FBXL4.PMID_28940506_Family_13_Individual_15 biolink:Case Family 13 Individual 15 MALE phenopacket.store:FBXL4.PMID_23993194_Family_2_Case_4 biolink:Case Family 2 Case 4 MALE phenopacket.store:FBXL4.PMID_28940506_Family_31_Individual_37 biolink:Case Family 31 Individual 37 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_22_Individual_28 biolink:Case Family 22 Individual 28 FEMALE phenopacket.store:FBXL4.PMID_31442532_P1 biolink:Case P1 FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_8_Case_2 biolink:Case Family 8 Case 2 MALE phenopacket.store:FBXL4.PMID_28940506_Family_2_Individual_3 biolink:Case Family 2 Individual 3 MALE phenopacket.store:FBXL4.PMID_25868664_Family_9_Case_4_Gai_2013_case_7 biolink:Case Family 9 Case 4 (Gai 2013 case 7) MALE phenopacket.store:FBXL4.PMID_25868664_Family_19_Case_3 biolink:Case Family 19 Case 3 MALE phenopacket.store:FBXL4.PMID_28940506_Family_9_Individual_10 biolink:Case Family 9 Individual 10 MALE phenopacket.store:FBXL4.PMID_27743463_S7 biolink:Case S7 MALE phenopacket.store:FBXL4.PMID_27743463_S5 biolink:Case S5 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_5_Individual_6 biolink:Case Family 5 Individual 6 MALE phenopacket.store:FBXL4.PMID_25868664_Family_7_Case_1 biolink:Case Family 7 Case 1 FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_18_Case_20 biolink:Case Family 18 Case 20 FEMALE phenopacket.store:FBXL4.PMID_28940506_Family_26_Individual_32 biolink:Case Family 26 Individual 32 MALE phenopacket.store:FBXL4.PMID_28940506_Family_17_Individual_23 biolink:Case Family 17 Individual 23 MALE phenopacket.store:FBXL4.PMID_23993194_Family_1_Case_1 biolink:Case Family 1 Case 1 MALE phenopacket.store:FBXL4.PMID_28940506_Family_1_Individual_2 biolink:Case Family 1 Individual 2 FEMALE phenopacket.store:FBXL4.PMID_25868664_Family_14_Case_13 biolink:Case Family 14 Case 13 MALE phenopacket.store:FBXL4.PMID_25868664_Family_12_Case_9_Gai_2013_case_9 biolink:Case Family 12 Case 9 (Gai 2013 case 9) MALE phenopacket.store:FBXL4.PMID_28940506_Family_15_Individual_19 biolink:Case Family 15 Individual 19 MALE phenopacket.store:FBXL4.PMID_32559514_1_year_old_girl biolink:Case 1-year-old girl FEMALE phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4_1 biolink:Case Family 4 Individual 4-1 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_13 biolink:Case Individual 13 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_11 biolink:Case Individual 11 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3_1 biolink:Case Family 3 Individual 3-1 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_17 biolink:Case Individual 17 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_23 biolink:Case Individual 23 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_18 biolink:Case Individual 18 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_16 biolink:Case Individual 16 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_18 biolink:Case Individual 18 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_16 biolink:Case Individual 16 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_14 biolink:Case Individual 14 MALE phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_1 biolink:Case Family 1 Individual 1-1 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_11 biolink:Case Individual 11 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2_1 biolink:Case Family 2 Individual 2-1 FEMALE phenopacket.store:FBXO11.PMID_30057029_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_1 biolink:Case Family 5 Individual 5-1 FEMALE phenopacket.store:FBXO11.PMID_30057029_Individual_12 biolink:Case Individual 12 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_10 biolink:Case Individual 10 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_22 biolink:Case Individual 22 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_17 biolink:Case Individual 17 MALE phenopacket.store:FBXO11.PMID_38740982_Family_3_Individual_3 biolink:Case Family 3 Individual 3 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:FBXO11.PMID_38740982_Family_2_Individual_2 biolink:Case Family 2 Individual 2 FEMALE phenopacket.store:FBXO11.PMID_30057029_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_12 biolink:Case Individual 12 MALE phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5_2 biolink:Case Family 5 Individual 5-2 MALE phenopacket.store:FBXO11.PMID_38740982_Family_5_Individual_5 biolink:Case Family 5 Individual 5 FEMALE phenopacket.store:FBXO11.PMID_30057029_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_19 biolink:Case Individual 19 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_20 biolink:Case Individual 20 FEMALE phenopacket.store:FBXO11.PMID_30057029_Individual_19 biolink:Case Individual 19 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_3 biolink:Case Individual 3 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_20 biolink:Case Individual 20 MALE phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1 biolink:Case Family 1 Individual 1 FEMALE phenopacket.store:FBXO11.PMID_30057029_Individual_10 biolink:Case Individual 10 FEMALE phenopacket.store:FBXO11.PMID_30057029_Individual_14 biolink:Case Individual 14 MALE phenopacket.store:FBXO11.PMID_38740982_Family_1_Individual_1_2 biolink:Case Family 1 Individual 1-2 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_24 biolink:Case Individual 24 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_21 biolink:Case Individual 21 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:FBXO11.PMID_38740982_Family_4_Individual_4 biolink:Case Family 4 Individual 4 FEMALE phenopacket.store:FBXO11.PMID_30679813_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:FBXO11.PMID_30057029_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:FBXO11.PMID_30057029_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:FBXO11.PMID_30679813_Individual_13 biolink:Case Individual 13 FEMALE phenopacket.store:FBXO7.PMID_18513678_individual_5002 biolink:Case individual 5002 MALE phenopacket.store:FBXO7.PMID_18513678_individual_5030 biolink:Case individual 5030 MALE phenopacket.store:FBXO7.PMID_18513678_individual_5051 biolink:Case individual 5051 MALE phenopacket.store:FBXO7.PMID_18513678_individual_5050 biolink:Case individual 5050 MALE phenopacket.store:FBXO7.PMID_18513678_individual_5003 biolink:Case individual 5003 FEMALE phenopacket.store:FBXO7.PMID_18513678_individual_5027 biolink:Case individual 5027 MALE phenopacket.store:FBXO7.PMID_18513678_individual_5001 biolink:Case individual 5001 MALE phenopacket.store:FBXO7.PMID_25085748_ANK_06 biolink:Case ANK-06 FEMALE phenopacket.store:FBXO7.PMID_18513678_individual_5039 biolink:Case individual 5039 MALE phenopacket.store:FBXO7.PMID_18513678_individual_5049 biolink:Case individual 5049 FEMALE phenopacket.store:FBXO7.PMID_18513678_individual_5004 biolink:Case individual 5004 MALE phenopacket.store:FBXO7.PMID_25085748_ANK_07 biolink:Case ANK-07 MALE phenopacket.store:FERMT3.PMID_31068971_proband biolink:Case proband MALE phenopacket.store:FGD1.PMID_36051692_younger_brother biolink:Case younger brother MALE phenopacket.store:FGD1.PMID_20082460_case_2 biolink:Case case 2 MALE phenopacket.store:FGD1.PMID_38411716_Case_5 biolink:Case Case 5 MALE phenopacket.store:FGD1.PMID_14560308_Patient_61 biolink:Case Patient 61 MALE phenopacket.store:FGD1.PMID_21739585_Twin_II biolink:Case Twin II MALE phenopacket.store:FGD1.PMID_38411716_Case_2 biolink:Case Case 2 MALE phenopacket.store:FGD1.PMID_36051692_elder_brother biolink:Case elder brother MALE phenopacket.store:FGD1.PMID_14560308_Patient_73 biolink:Case Patient 73 MALE phenopacket.store:FGD1.PMID_33067218_Case_Report biolink:Case Case Report MALE phenopacket.store:FGD1.PMID_14560308_Patient_58 biolink:Case Patient 58 MALE phenopacket.store:FGD1.PMID_35388608_Case_3_Family_1 biolink:Case Case 3: Family 1 MALE phenopacket.store:FGD1.PMID_38411716_Case_3 biolink:Case Case 3 MALE phenopacket.store:FGD1.PMID_26029706_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:FGD1.PMID_11093277_MK_CMS0843 biolink:Case MK-CMS0843 MALE phenopacket.store:FGD1.PMID_35388608_Case_4_Family_2_proband biolink:Case Case 4 Family 2 proband MALE phenopacket.store:FGD1.PMID_28103835_proband_IV_3 biolink:Case proband IV-3 MALE phenopacket.store:FGD1.PMID_14560308_Patient_27 biolink:Case Patient 27 MALE phenopacket.store:FGD1.PMID_14560308_Patient_53 biolink:Case Patient 53 MALE phenopacket.store:FGD1.PMID_34189097_Case_presentation biolink:Case Case presentation MALE phenopacket.store:FGD1.PMID_11093277_K8345_III_1_FC biolink:Case K8345 III-1 FC MALE phenopacket.store:FGD1.PMID_20082460_case_6 biolink:Case case 6 MALE phenopacket.store:FGD1.PMID_26029706_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:FGD1.PMID_20082460_case_7 biolink:Case case 7 MALE phenopacket.store:FGD1.PMID_20082460_case_5 biolink:Case case 5 MALE phenopacket.store:FGD1.PMID_38411716_Case_4 biolink:Case Case 4 MALE phenopacket.store:FGD1.PMID_26029706_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:FGD1.PMID_38411716_Case_1 biolink:Case Case 1 MALE phenopacket.store:FGD1.PMID_20082460_case_8 biolink:Case case 8 MALE phenopacket.store:FGD1.PMID_14560308_Patient_25 biolink:Case Patient 25 MALE phenopacket.store:FGD1.PMID_14560308_Patient_59 biolink:Case Patient 59 MALE phenopacket.store:FGD1.PMID_20082460_case_11 biolink:Case case 11 MALE phenopacket.store:FGD1.PMID_21739585_Twin_I biolink:Case Twin I MALE phenopacket.store:FGD1.PMID_14560308_Patient_50 biolink:Case Patient 50 MALE phenopacket.store:FGD1.PMID_14560308_Patient_65 biolink:Case Patient 65 MALE phenopacket.store:FGD1.PMID_28103835_brother_IV_5 biolink:Case brother IV-5 MALE phenopacket.store:FGD1.PMID_20082460_case_10 biolink:Case case 10 MALE phenopacket.store:FGD1.PMID_28587322_Clinical_presentation biolink:Case Clinical presentation MALE phenopacket.store:FGD1.PMID_14560308_Patient_26 biolink:Case Patient 26 MALE phenopacket.store:FGD1.PMID_11093277_K8345_III_3_IT biolink:Case K8345 III-3 IT MALE phenopacket.store:FGD1.PMID_24770546_Case_report biolink:Case Case report MALE phenopacket.store:FGD1.PMID_20082460_case_4 biolink:Case case 4 MALE phenopacket.store:FGD1.PMID_14560308_Patient_90 biolink:Case Patient 90 MALE phenopacket.store:FGD1.PMID_23211637_index_case biolink:Case index case MALE phenopacket.store:FGD1.PMID_35388608_Case_1_Proband_family_1 biolink:Case Case 1 Proband family 1 MALE phenopacket.store:FGD1.PMID_20082460_case_3 biolink:Case case 3 MALE phenopacket.store:FGD1.PMID_20082460_case_1 biolink:Case case 1 MALE phenopacket.store:FGD1.PMID_20082460_case_9 biolink:Case case 9 MALE phenopacket.store:FGD1.PMID_14560308_Patient_91 biolink:Case Patient 91 MALE phenopacket.store:FGFR2.PMID_23546041_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:FGFR2.PMID_23546041_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:FGFR3.PMID_26740388_PMID_26740388 biolink:Case PMID:26740388 FEMALE phenopacket.store:FGFR3.PMID_30681580_proband biolink:Case proband FEMALE phenopacket.store:FILIP1.PMID_36943452_Family_3_individual_III_3 biolink:Case Family 3 individual III.3 MALE phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_2 biolink:Case Family A Patient 2 FEMALE phenopacket.store:FILIP1.PMID_37163662_Family_D_Patient_5 biolink:Case Family D Patient 5 MALE phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_1 biolink:Case Family 1 individual III.1 MALE phenopacket.store:FILIP1.PMID_37163662_Family_C_Patient_4 biolink:Case Family C Patient 4 MALE phenopacket.store:FILIP1.PMID_37163662_Family_B_Patient_3 biolink:Case Family B Patient 3 MALE phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_3 biolink:Case Family 1 individual III.3 MALE phenopacket.store:FILIP1.PMID_37163662_Family_A_Patient_1 biolink:Case Family A Patient 1 FEMALE phenopacket.store:FILIP1.PMID_36943452_Family_1_individual_III_2 biolink:Case Family 1 individual III.2 MALE phenopacket.store:FILIP1.PMID_36943452_Family_2_individual_III_3 biolink:Case Family 2 individual III.3 MALE phenopacket.store:FKBP10.PMID_29801479_proband biolink:Case proband MALE phenopacket.store:FKBP10.PMID_20839288_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:FLNB.PMID_27977582_male_child  biolink:Case male child  MALE phenopacket.store:FLNB.PMID_36267862_5-month-old_boy biolink:Case 5-month-old boy MALE phenopacket.store:FLNB.PMID_18322662_patient biolink:Case patient MALE phenopacket.store:FOSL2.PMID_36197437_case_6 biolink:Case case 6 phenopacket.store:FOSL2.PMID_36197437_case_10 biolink:Case case 10 phenopacket.store:FOSL2.PMID_36197437_case_8 biolink:Case case 8 phenopacket.store:FOSL2.PMID_36197437_case_1 biolink:Case case 1 phenopacket.store:FOSL2.PMID_36197437_case_4 biolink:Case case 4 phenopacket.store:FOSL2.PMID_36197437_case_3 biolink:Case case 3 phenopacket.store:FOSL2.PMID_36197437_case_5 biolink:Case case 5 phenopacket.store:FOSL2.PMID_36197437_case_11 biolink:Case case 11 phenopacket.store:FOSL2.PMID_36197437_case_9 biolink:Case case 9 phenopacket.store:FOSL2.PMID_36197437_case_7 biolink:Case case 7 phenopacket.store:FOSL2.PMID_36197437_case_2 biolink:Case case 2 phenopacket.store:FOXE1.PMID_12165566_IV_5 biolink:Case IV-5 MALE phenopacket.store:FOXE1.PMID_35963604_proband biolink:Case proband MALE phenopacket.store:FOXE1.PMID_16882747_proband biolink:Case proband FEMALE phenopacket.store:FOXE1.PMID_24219130_boy biolink:Case boy MALE phenopacket.store:FOXE1.PMID_9697705_proband biolink:Case proband MALE phenopacket.store:FOXE1.PMID_12165566_IV_11 biolink:Case IV-11 MALE phenopacket.store:FOXE1.PMID_9697705_brother biolink:Case brother MALE phenopacket.store:FOXG1.PMID_28851325_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:FOXG1.PMID_28851325_Case_3 biolink:Case Case 3 FEMALE phenopacket.store:FOXG1.PMID_28851325_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:FOXG1.PMID_28851325_Case_4 biolink:Case Case 4 FEMALE phenopacket.store:FTH1.PMID_37660254_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:FTH1.PMID_37660254_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:FTH1.PMID_37660254_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:FTH1.PMID_37660254_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:FTH1.PMID_37660254_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:FYB1.PMID_25876182_Patient_VI_3 biolink:Case Patient VI-3 MALE phenopacket.store:FYB1.PMID_25876182_Patient_VI_1 biolink:Case Patient VI-1 FEMALE phenopacket.store:FYB1.PMID_25876182_Patient_VI_6 biolink:Case Patient VI-6 FEMALE phenopacket.store:FYB1.PMID_25516138_IV_5 biolink:Case IV:5 FEMALE phenopacket.store:FYB1.PMID_25876182_Patient_VI_5 biolink:Case Patient VI-5 MALE phenopacket.store:FYB1.PMID_25876182_Patient_VI_2 biolink:Case Patient VI-2 FEMALE phenopacket.store:FYB1.PMID_25516138_IV_6 biolink:Case IV:6 FEMALE phenopacket.store:FYB1.PMID_25516138_IV_3 biolink:Case IV:3 MALE phenopacket.store:FZD5.PMID_32737437_Patient_1_ADN120143 biolink:Case Patient 1 ADN120143 FEMALE phenopacket.store:FZD5.PMID_32737437_Patient_2_ADN140259 biolink:Case Patient 2 ADN140259 FEMALE phenopacket.store:FZD5.PMID_33633439_18739_I_1 biolink:Case 18739-I:1 MALE phenopacket.store:FZD5.PMID_33633439_17413_I_2 biolink:Case 17413-I:2 FEMALE phenopacket.store:FZD5.PMID_36695497_Individual_7 biolink:Case Individual 7 phenopacket.store:FZD5.PMID_36695497_Individual_3 biolink:Case Individual 3 phenopacket.store:FZD5.PMID_33633439_9574_II_2 biolink:Case 9574-II:2 FEMALE phenopacket.store:FZD5.PMID_36695497_Individual_6 biolink:Case Individual 6 phenopacket.store:FZD5.PMID_36695497_Individual_4 biolink:Case Individual 4 phenopacket.store:FZD5.PMID_36695497_Individual_5 biolink:Case Individual 5 phenopacket.store:FZD5.PMID_33633439_18739_II_1 biolink:Case 18739-II:1 MALE phenopacket.store:FZD5.PMID_33633439_1267_II_1 biolink:Case 1267-II:1 FEMALE phenopacket.store:FZD5.PMID_33633439_9574_I_1 biolink:Case 9574-I:1 MALE phenopacket.store:FZD5.PMID_33633439_13706_II_1 biolink:Case 13706-II:1 MALE phenopacket.store:FZD5.PMID_32737437_Patient_4_ADN190002 biolink:Case Patient 4 ADN190002 FEMALE phenopacket.store:FZD5.PMID_32737437_Patient_3_SG170145 biolink:Case Patient 3 SG170145 FEMALE phenopacket.store:FZD5.PMID_33633439_5485_I_1 biolink:Case 5485-I:1 MALE phenopacket.store:FZD5.PMID_33633439_5485_II_2 biolink:Case 5485-II:2 FEMALE phenopacket.store:FZD5.PMID_33633439_9574_II_1 biolink:Case 9574-II:1 MALE phenopacket.store:FZD5.PMID_33633439_17413_II_1 biolink:Case 17413-II:1 FEMALE phenopacket.store:FZD5.PMID_36695497_Individual_8 biolink:Case Individual 8 phenopacket.store:FZD5.PMID_33633439_9472_II_1 biolink:Case 9472-II:1 MALE phenopacket.store:FZD5.PMID_33633439_12467_II_1 biolink:Case 12467-II:1 FEMALE phenopacket.store:FZD5.PMID_33633439_5485_II_1 biolink:Case 5485-II:1 MALE phenopacket.store:FZD5.PMID_33633439_13706_I_1 biolink:Case 13706-I:1 MALE phenopacket.store:FZD5.PMID_36695497_Individual_1 biolink:Case Individual 1 phenopacket.store:FZD5.PMID_36695497_Individual_2 biolink:Case Individual 2 phenopacket.store:FZD5.PMID_33633439_12467_I_1 biolink:Case 12467-I:1 MALE phenopacket.store:FZD5.PMID_33633439_940_I_1 biolink:Case 940-I:1 FEMALE phenopacket.store:GABBR1.PMID_36103875_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:GABBR1.PMID_36103875_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:GABBR1.PMID_36103875_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:GABBR1.PMID_36103875_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:GALC.PMID_26567009_male_child biolink:Case male child MALE phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_4_IV_13 biolink:Case PMID:12930321 Patient 4 IV:13 FEMALE phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_4 biolink:Case Pedigree A. II.4 FEMALE phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_2_IV_8 biolink:Case PMID:12930321 Patient 2 IV:8 FEMALE phenopacket.store:GALE.PMID_33510604_Case_Presentation biolink:Case Case Presentation MALE phenopacket.store:GALE.PMID_30247636_kindred_AH_proband_IV_1 biolink:Case kindred AH proband IV.1 FEMALE phenopacket.store:GALE.PMID_36395340_Pedigree_B_II_2 biolink:Case Pedigree B. II.2 MALE phenopacket.store:GALE.PMID_36395340_Pedigree_A_II_1 biolink:Case Pedigree A. II.1 MALE phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_3_IV_6 biolink:Case PMID:12930321 Patient 3 IV:6 FEMALE phenopacket.store:GALE.PMID_34159722_patient biolink:Case patient FEMALE phenopacket.store:GALE.PMID_30247636_PMID_12930321_Patient_1 biolink:Case PMID:12930321 Patient 1 FEMALE phenopacket.store:GALT.PMID_25681079_proband_FKT118 biolink:Case proband FKT118 FEMALE phenopacket.store:GAS2.PMID_33964205_individual_V_5 biolink:Case individual V.5 MALE phenopacket.store:GAS2.PMID_33964205_individual_V_6 biolink:Case individual V.6 MALE phenopacket.store:GAS2.PMID_33964205_individual_V_7 biolink:Case individual V.7 MALE phenopacket.store:GAS2.PMID_33964205_individual_V_2 biolink:Case individual V.2 MALE phenopacket.store:GCDH.PMID_27672653_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:GCDH.PMID_27672653_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:GCDH.PMID_27672653_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:GCDH.PMID_27672653_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:GCDH.PMID_27672653_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:GCDH.PMID_27672653_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:GCDH.PMID_27672653_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:GCSH.PMID_36190515_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:GCSH.PMID_36190515_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:GCSH.PMID__33890291_Proband_2 biolink:Case Proband 2 FEMALE phenopacket.store:GCSH.PMID__33890291_Proband_1 biolink:Case Proband 1 MALE phenopacket.store:GCSH.PMID_36190515_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:GCSH.PMID_36190515_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:GCSH.PMID_36190515_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:GCSH.PMID_36190515_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:GCSH.PMID__33890291_Proband_3 biolink:Case Proband 3 FEMALE phenopacket.store:GIPC3.PMID_21660509_DEM4197b biolink:Case DEM4197b phenopacket.store:GIPC3.PMID_21660509_PKDF1048b biolink:Case PKDF1048b phenopacket.store:GIPC3.PMID_29605370_Ahv_14 biolink:Case Ahv-14 phenopacket.store:GIPC3.PMID_21660509_DEM4322b biolink:Case DEM4322b phenopacket.store:GIPC3.PMID_21660509_PKDF1258b biolink:Case PKDF1258b phenopacket.store:GIPC3.PMID_21660509_PKSR22Ab biolink:Case PKSR22Ab phenopacket.store:GIPC3.PMID_21660509_Indian_familye biolink:Case Indian familye phenopacket.store:GIPC3.PMID_21660509_W98_042e biolink:Case W98–042e phenopacket.store:GIPC3.PMID_21660509_PKDF793d biolink:Case PKDF793d phenopacket.store:GIPC3.PMID_21660509_PKDF335d biolink:Case PKDF335d phenopacket.store:GLB1.PMID_1907800_KT biolink:Case KT FEMALE phenopacket.store:GLB1.PMID_1907800_TS biolink:Case TS FEMALE phenopacket.store:GLI3.PMID_24736735_G016_ biolink:Case G016 phenopacket.store:GLI3.PMID_24736735_G056_Father biolink:Case G056_Father phenopacket.store:GLI3.PMID_18000979_OX2877-II:2 biolink:Case OX2877-II:2 MALE phenopacket.store:GLI3.PMID_24736735_G076_Mother biolink:Case G076_Mother phenopacket.store:GLI3.PMID_24736735_G051_Mother biolink:Case G051_Mother phenopacket.store:GLI3.PMID_24736735_G068_Brother biolink:Case G068_Brother phenopacket.store:GLI3.PMID_22428873_P4 biolink:Case P4 MALE phenopacket.store:GLI3.PMID_24736735_G13684_Brother biolink:Case G13684_Brother phenopacket.store:GLI3.PMID_24736735_G040_ biolink:Case G040 phenopacket.store:GLI3.PMID_24736735_G114_Sister biolink:Case G114_Sister phenopacket.store:GLI3.PMID_22428873_P3 biolink:Case P3 MALE phenopacket.store:GLI3.PMID_24736735_G048_ biolink:Case G048 phenopacket.store:GLI3.PMID_24736735_G068_ biolink:Case G068 phenopacket.store:GLI3.PMID_24736735_GBUL_ biolink:Case GBUL phenopacket.store:GLI3.PMID_24736735_G094_ biolink:Case G094 phenopacket.store:GLI3.PMID_24736735_G003_ biolink:Case G003 phenopacket.store:GLI3.PMID_24736735_G063_ biolink:Case G063 phenopacket.store:GLI3.PMID_24736735_G109_ biolink:Case G109 phenopacket.store:GLI3.PMID_18000979_OX2877-III:3 biolink:Case OX2877-III:3 FEMALE phenopacket.store:GLI3.PMID_24736735_G013_F*_ biolink:Case G013 F* phenopacket.store:GLI3.PMID_24736735_G002_ biolink:Case G002 phenopacket.store:GLI3.PMID_24736735_G001_ biolink:Case G001 phenopacket.store:GLI3.PMID_24736735_G076_Brother biolink:Case G076_Brother phenopacket.store:GLI3.PMID_24736735_G070_Mother biolink:Case G070_Mother phenopacket.store:GLI3.PMID_24736735_G051_ biolink:Case G051 phenopacket.store:GLI3.PMID_24736735_G044_ biolink:Case G044 phenopacket.store:GLI3.PMID_24736735_G012_F*_ biolink:Case G012 F* phenopacket.store:GLI3.PMID_24736735_G14083_ biolink:Case G14083 phenopacket.store:GLI3.PMID_24736735_G080_F*_ biolink:Case G080 F* phenopacket.store:GLI3.PMID_24736735_P15112_ biolink:Case P15112 phenopacket.store:GLI3.PMID_22428873_P6 biolink:Case P6 MALE phenopacket.store:GLI3.PMID_24736735_G004_ biolink:Case G004 phenopacket.store:GLI3.PMID_24736735_G111_ biolink:Case G111 phenopacket.store:GLI3.PMID_24736735_G028_ biolink:Case G028 phenopacket.store:GLI3.PMID_24736735_G109_Father biolink:Case G109_Father phenopacket.store:GLI3.PMID_22428873_P1 biolink:Case P1 MALE phenopacket.store:GLI3.PMID_24736735_G081_ biolink:Case G081 phenopacket.store:GLI3.PMID_24736735_G043_Brother biolink:Case G043_Brother phenopacket.store:GLI3.PMID_24736735_G003_Brother biolink:Case G003_Brother phenopacket.store:GLI3.PMID_24736735_G079_ biolink:Case G079 phenopacket.store:GLI3.PMID_24736735_G083_-Father biolink:Case G083 -Father phenopacket.store:GLI3.PMID_24736735_G121_ biolink:Case G121 phenopacket.store:GLI3.PMID_24736735_G083_ biolink:Case G083 phenopacket.store:GLI3.PMID_24736735_G043_Father biolink:Case G043_Father phenopacket.store:GLI3.PMID_24736735_G006_ biolink:Case G006 phenopacket.store:GLI3.PMID_22428873_P5 biolink:Case P5 MALE phenopacket.store:GLI3.PMID_24736735_G024_F*_ biolink:Case G024 F* phenopacket.store:GLI3.PMID_24736735_A018_ biolink:Case A018 phenopacket.store:GLI3.PMID_24736735_A019F*_ biolink:Case A019F* phenopacket.store:GLI3.PMID_24736735_G099_ biolink:Case G099 phenopacket.store:GLI3.PMID_24736735_G15198_ biolink:Case G15198 phenopacket.store:GLI3.PMID_24736735_G085-Grand-mother biolink:Case G085-Grand-mother phenopacket.store:GLI3.PMID_24736735_G115_ biolink:Case G115 phenopacket.store:GLI3.PMID_24736735_G085-Aunt biolink:Case G085-Aunt phenopacket.store:GLI3.PMID_24736735_G114_ biolink:Case G114 phenopacket.store:GLI3.PMID_24736735_G14331_ biolink:Case G14331 phenopacket.store:GLI3.PMID_24736735_G056_ biolink:Case G056 phenopacket.store:GLI3.PMID_18000979_OX2877-III:2 biolink:Case OX2877-III:2 FEMALE phenopacket.store:GLI3.PMID_22428873_P2 biolink:Case P2 FEMALE phenopacket.store:GLI3.PMID_24736735_A017_ biolink:Case A017 phenopacket.store:GLI3.PMID_24736735_G13684_Mother biolink:Case G13684_Mother phenopacket.store:GLI3.PMID_24736735_G003_Mother biolink:Case G003_Mother phenopacket.store:GLI3.PMID_24736735_G16012_ biolink:Case G16012 phenopacket.store:GLI3.PMID_24736735_G109_Sister biolink:Case G109_Sister phenopacket.store:GLI3.PMID_18000979_OX2877-I:1 biolink:Case OX2877-I:1 MALE phenopacket.store:GLI3.PMID_24736735_G043_ biolink:Case G043 phenopacket.store:GLI3.PMID_24736735_G085_ biolink:Case G085 phenopacket.store:GLI3.PMID_24736735_G082_ biolink:Case G082 phenopacket.store:GLI3.PMID_24736735_G104_F*_ biolink:Case G104 F* phenopacket.store:GLI3.PMID_24736735_G13684_ biolink:Case G13684 phenopacket.store:GLI3.PMID_24736735_G038_ biolink:Case G038 phenopacket.store:GLI3.PMID_24736735_G076_ biolink:Case G076 phenopacket.store:GLI3.PMID_24736735_G088_ biolink:Case G088 phenopacket.store:GLI3.PMID_24736735_G026_ biolink:Case G026 phenopacket.store:GLI3.PMID_24736735_G085-Father biolink:Case G085-Father phenopacket.store:GLI3.PMID_24736735_G029_ biolink:Case G029 phenopacket.store:GLI3.PMID_24736735_G072_F*_ biolink:Case G072 F* phenopacket.store:GLI3.PMID_24736735_G118_ biolink:Case G118 phenopacket.store:GLI3.PMID_24736735_G070_ biolink:Case G070 phenopacket.store:GLI3.PMID_24736735_G033_ biolink:Case G033 phenopacket.store:GLI3.PMID_24736735_G097_ biolink:Case G097 phenopacket.store:GLI3.PMID_24736735_G16012_Daughter biolink:Case G16012_Daughter phenopacket.store:GLRA1.PMID_24969041_neonate biolink:Case neonate MALE phenopacket.store:GLUL.PMID_38579670_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:GLUL.PMID_38579670_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:GLUL.PMID_38579670_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:GLUL.PMID_38579670_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:GLUL.PMID_38579670_Individual_3 biolink:Case Individual 3 FEMALE phenopacket.store:GLUL.PMID_38579670_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:GLUL.PMID_38579670_Individual_8 biolink:Case Individual 8 FEMALE phenopacket.store:GLUL.PMID_38579670_Individual_9 biolink:Case Individual 9 FEMALE phenopacket.store:GLUL.PMID_38579670_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:GNAO1.PMID_23993195_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:GNAO1.PMID_23993195_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:GNAS.PMID_25802881_M66 biolink:Case M66 FEMALE phenopacket.store:GNAS.PMID_25802881_P6 biolink:Case P6 MALE phenopacket.store:GNAS.PMID_25802881_P30 biolink:Case P30 FEMALE phenopacket.store:GNAS.PMID_25802881_P20 biolink:Case P20 MALE phenopacket.store:GNAS.PMID_25802881_P51 biolink:Case P51 MALE phenopacket.store:GNAS.PMID_25802881_P45 biolink:Case P45 FEMALE phenopacket.store:GNAS.PMID_25802881_M35 biolink:Case M35 FEMALE phenopacket.store:GNAS.PMID_25802881_M85 biolink:Case M85 FEMALE phenopacket.store:GNAS.PMID_25802881_P44 biolink:Case P44 MALE phenopacket.store:GNAS.PMID_25802881_P8 biolink:Case P8 FEMALE phenopacket.store:GNAS.PMID_25802881_P48 biolink:Case P48 FEMALE phenopacket.store:GNAS.PMID_25802881_P62 biolink:Case P62 MALE phenopacket.store:GNAS.PMID_25802881_P4 biolink:Case P4 MALE phenopacket.store:GNAS.PMID_25802881_M21 biolink:Case M21 FEMALE phenopacket.store:GNAS.PMID_25802881_M81 biolink:Case M81 FEMALE phenopacket.store:GNAS.PMID_25802881_P57 biolink:Case P57 FEMALE phenopacket.store:GNAS.PMID_25802881_P24 biolink:Case P24 FEMALE phenopacket.store:GNAS.PMID_25802881_P84 biolink:Case P84 MALE phenopacket.store:GNAS.PMID_25802881_P12 biolink:Case P12 MALE phenopacket.store:GNAS.PMID_25802881_P11 biolink:Case P11 MALE phenopacket.store:GNAS.PMID_25802881_P85 biolink:Case P85 FEMALE phenopacket.store:GNAS.PMID_25802881_P15 biolink:Case P15 MALE phenopacket.store:GNAS.PMID_25802881_P3 biolink:Case P3 FEMALE phenopacket.store:GNAS.PMID_25802881_M40 biolink:Case M40 FEMALE phenopacket.store:GNAS.PMID_25802881_P81 biolink:Case P81 FEMALE phenopacket.store:GNAS.PMID_25802881_P75 biolink:Case P75 FEMALE phenopacket.store:GNAS.PMID_25802881_P19 biolink:Case P19 FEMALE phenopacket.store:GNAS.PMID_25802881_M20 biolink:Case M20 FEMALE phenopacket.store:GNAS.PMID_25802881_P37 biolink:Case P37 FEMALE phenopacket.store:GNAS.PMID_25802881_P86 biolink:Case P86 FEMALE phenopacket.store:GNAS.PMID_25802881_P25 biolink:Case P25 MALE phenopacket.store:GNAS.PMID_25802881_P82 biolink:Case P82 FEMALE phenopacket.store:GNAS.PMID_25802881_P46 biolink:Case P46 MALE phenopacket.store:GNAS.PMID_25802881_P14 biolink:Case P14 MALE phenopacket.store:GNAS.PMID_25802881_P76 biolink:Case P76 FEMALE phenopacket.store:GNAS.PMID_25802881_P34 biolink:Case P34 FEMALE phenopacket.store:GNAS.PMID_25802881_M10 biolink:Case M10 FEMALE phenopacket.store:GNAS.PMID_25802881_M23 biolink:Case M23 FEMALE phenopacket.store:GNAS.PMID_25802881_P10 biolink:Case P10 MALE phenopacket.store:GNAS.PMID_25802881_P33 biolink:Case P33 MALE phenopacket.store:GNAS.PMID_25802881_P54 biolink:Case P54 FEMALE phenopacket.store:GNAS.PMID_25802881_P78 biolink:Case P78 MALE phenopacket.store:GNAS.PMID_25802881_P68 biolink:Case P68 FEMALE phenopacket.store:GNAS.PMID_25802881_P29 biolink:Case P29 MALE phenopacket.store:GNAS.PMID_25802881_P73 biolink:Case P73 FEMALE phenopacket.store:GNAS.PMID_25802881_P36 biolink:Case P36 MALE phenopacket.store:GNAS.PMID_25802881_P87 biolink:Case P87 MALE phenopacket.store:GNAS.PMID_25802881_P66 biolink:Case P66 FEMALE phenopacket.store:GNAS.PMID_25802881_P59 biolink:Case P59 MALE phenopacket.store:GNAS.PMID_25802881_P38 biolink:Case P38 FEMALE phenopacket.store:GNAS.PMID_25802881_P26 biolink:Case P26 MALE phenopacket.store:GNAS.PMID_25802881_M57 biolink:Case M57 FEMALE phenopacket.store:GNAS.PMID_25802881_P88 biolink:Case P88 FEMALE phenopacket.store:GNAS.PMID_25802881_S40 biolink:Case S40 FEMALE phenopacket.store:GNAS.PMID_25802881_P9 biolink:Case P9 MALE phenopacket.store:GNAS.PMID_25802881_P27 biolink:Case P27 MALE phenopacket.store:GNAS.PMID_25802881_M73 biolink:Case M73 FEMALE phenopacket.store:GNAS.PMID_25802881_P23 biolink:Case P23 MALE phenopacket.store:GNAS.PMID_25802881_P40 biolink:Case P40 FEMALE phenopacket.store:GNAS.PMID_25802881_P77 biolink:Case P77 MALE phenopacket.store:GNAS.PMID_25802881_M56 biolink:Case M56 FEMALE phenopacket.store:GNAS.PMID_25802881_P7 biolink:Case P7 FEMALE phenopacket.store:GNAS.PMID_25802881_M8 biolink:Case M8 FEMALE phenopacket.store:GNAS.PMID_25802881_P47 biolink:Case P47 FEMALE phenopacket.store:GNAS.PMID_25802881_P60 biolink:Case P60 FEMALE phenopacket.store:GNAS.PMID_25802881_M74 biolink:Case M74 FEMALE phenopacket.store:GNAS.PMID_25802881_P13 biolink:Case P13 FEMALE phenopacket.store:GNAS.PMID_25802881_P32 biolink:Case P32 MALE phenopacket.store:GNAS.PMID_25802881_P74 biolink:Case P74 FEMALE phenopacket.store:GNAS.PMID_25802881_P31 biolink:Case P31 MALE phenopacket.store:GNAS.PMID_25802881_P80 biolink:Case P80 MALE phenopacket.store:GNAS.PMID_25802881_P52 biolink:Case P52 FEMALE phenopacket.store:GNAS.PMID_25802881_P71 biolink:Case P71 MALE phenopacket.store:GNAS.PMID_25802881_P39 biolink:Case P39 FEMALE phenopacket.store:GNAS.PMID_25802881_P65 biolink:Case P65 MALE phenopacket.store:GNAS.PMID_25802881_P2 biolink:Case P2 FEMALE phenopacket.store:GNAS.PMID_25802881_P50 biolink:Case P50 MALE phenopacket.store:GNAS.PMID_25802881_P49 biolink:Case P49 MALE phenopacket.store:GNAS.PMID_25802881_S82 biolink:Case S82 FEMALE phenopacket.store:GNAS.PMID_25802881_P58 biolink:Case P58 MALE phenopacket.store:GNAS.PMID_25802881_P72 biolink:Case P72 FEMALE phenopacket.store:GNAS.PMID_25802881_P28 biolink:Case P28 MALE phenopacket.store:GNAS.PMID_25802881_P55 biolink:Case P55 FEMALE phenopacket.store:GNAS.PMID_25802881_P79 biolink:Case P79 FEMALE phenopacket.store:GNAS.PMID_25802881_P61 biolink:Case P61 FEMALE phenopacket.store:GNAS.PMID_25802881_P43 biolink:Case P43 MALE phenopacket.store:GNAS.PMID_25802881_S8 biolink:Case S8 FEMALE phenopacket.store:GNAS.PMID_25802881_S64 biolink:Case S64 FEMALE phenopacket.store:GNAS.PMID_25802881_M82 biolink:Case M82 FEMALE phenopacket.store:GNAS.PMID_25802881_P17 biolink:Case P17 FEMALE phenopacket.store:GNAS.PMID_25802881_P41 biolink:Case P41 FEMALE phenopacket.store:GNAS.PMID_25802881_P35 biolink:Case P35 FEMALE phenopacket.store:GNAS.PMID_25802881_M31 biolink:Case M31 FEMALE phenopacket.store:GNAS.PMID_25802881_P69 biolink:Case P69 FEMALE phenopacket.store:GNAS.PMID_25802881_P22 biolink:Case P22 FEMALE phenopacket.store:GNAS.PMID_25802881_P56 biolink:Case P56 MALE phenopacket.store:GNAS.PMID_25802881_P18 biolink:Case P18 FEMALE phenopacket.store:GNAS.PMID_25802881_B68 biolink:Case B68 FEMALE phenopacket.store:GNAS.PMID_25802881_P21 biolink:Case P21 MALE phenopacket.store:GNAS.PMID_25802881_M16 biolink:Case M16 FEMALE phenopacket.store:GNAS.PMID_25802881_P42 biolink:Case P42 MALE phenopacket.store:GNAS.PMID_25802881_P5 biolink:Case P5 FEMALE phenopacket.store:GNAS.PMID_25802881_P64 biolink:Case P64 MALE phenopacket.store:GNAS.PMID_25802881_M52 biolink:Case M52 FEMALE phenopacket.store:GNAS.PMID_25802881_P67 biolink:Case P67 FEMALE phenopacket.store:GNAS.PMID_25802881_M22 biolink:Case M22 FEMALE phenopacket.store:GNAS.PMID_25802881_M64 biolink:Case M64 FEMALE phenopacket.store:GNAS.PMID_25802881_P53 biolink:Case P53 MALE phenopacket.store:GNAS.PMID_25802881_P16 biolink:Case P16 MALE phenopacket.store:GNAS.PMID_25802881_M39 biolink:Case M39 FEMALE phenopacket.store:GNAS.PMID_25802881_M61 biolink:Case M61 FEMALE phenopacket.store:GNAS.PMID_25802881_P70 biolink:Case P70 FEMALE phenopacket.store:GNAS.PMID_25802881_P63 biolink:Case P63 FEMALE phenopacket.store:GNAS.PMID_25802881_P83 biolink:Case P83 MALE phenopacket.store:GNB1.PMID_29174093_proband biolink:Case proband FEMALE phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_6 biolink:Case NAD-07 individual IV:6 FEMALE phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_4 biolink:Case NAD-07 individual IV:4 MALE phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_5 biolink:Case NAD-07 individual IV:5 FEMALE phenopacket.store:GNPNAT1.PMID_32591345_NAD_07_individual_IV_1 biolink:Case NAD-07 individual IV:1 MALE phenopacket.store:GNPNAT1.PMID_36097642_subject biolink:Case subject MALE phenopacket.store:GNPNAT1.PMID_35427807_individual biolink:Case individual FEMALE phenopacket.store:GNPTAB.PMID_30208878_proband biolink:Case proband MALE phenopacket.store:GPSM2.PMID_27180139_case_1 biolink:Case case 1 MALE phenopacket.store:GPSM2.PMID_27180139_case_2 biolink:Case case 2 MALE phenopacket.store:GRHPR.PMID_28569194_nan biolink:Case nan FEMALE phenopacket.store:GSN.PMID_26915616_case_report biolink:Case case report MALE phenopacket.store:GTF2H5.PMID_30359777_nan biolink:Case nan MALE phenopacket.store:HCN4.PMID_12750403_66_year_old_woman biolink:Case 66-year-old woman FEMALE phenopacket.store:HCN4.PMID_25145518_index_patient_IV_1 biolink:Case index patient IV.1 MALE phenopacket.store:HCN4.PMID_15123648_index_patient biolink:Case index patient FEMALE phenopacket.store:HCN4.PMID_25145518_patient_VI_2 biolink:Case patient VI.2 FEMALE phenopacket.store:HCN4.PMID_25145518_patient_VI_1 biolink:Case patient VI.1 MALE phenopacket.store:HCN4.PMID_25145518_patient_III_2 biolink:Case patient III.2 FEMALE phenopacket.store:HMBS.PMID_14970743_patient_MA biolink:Case patient MA MALE phenopacket.store:HMBS.PMID_27558376_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:HMBS.PMID_34089223_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:HMBS.PMID_1577472_sister biolink:Case sister FEMALE phenopacket.store:HMBS.PMID_27558376_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:HMBS.PMID_15534187_proband biolink:Case proband MALE phenopacket.store:HMBS.PMID_27558376_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_2 biolink:Case Individual F1-II:2 MALE phenopacket.store:HMGCR.PMID_37167966_Individual_F5_II_1 biolink:Case Individual F5-II:1 FEMALE phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_1 biolink:Case Individual F1-II:1 MALE phenopacket.store:HMGCR.PMID_36745799_Individual_V_12 biolink:Case Individual V:12 FEMALE phenopacket.store:HMGCR.PMID_36745799_Individual_V_8 biolink:Case Individual V:8 MALE phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_2 biolink:Case Individual F2-II:2 MALE phenopacket.store:HMGCR.PMID_36745799_Individual_V_2 biolink:Case Individual V:2 FEMALE phenopacket.store:HMGCR.PMID_37167966_Individual_F1_II_3 biolink:Case Individual F1-II:3 MALE phenopacket.store:HMGCR.PMID_36745799_Individual_V_13 biolink:Case Individual V:13 MALE phenopacket.store:HMGCR.PMID_37167966_Individual_F3_II_1 biolink:Case Individual F3-II:1 FEMALE phenopacket.store:HMGCR.PMID_37167966_Individual_F2_II_1 biolink:Case Individual F2-II:1 FEMALE phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_2 biolink:Case Individual F4-II:2 MALE phenopacket.store:HMGCR.PMID_36745799_Individual_V_9 biolink:Case Individual V:9 MALE phenopacket.store:HMGCR.PMID_36745799_Individual_V_5 biolink:Case Individual V:5 MALE phenopacket.store:HMGCR.PMID_37167966_Individual_F4_II_1 biolink:Case Individual F4-II:1 FEMALE phenopacket.store:HMGCS2.PMID_31392109_Case_presentation biolink:Case Case presentation MALE phenopacket.store:HMGCS2.PMID_29030856_Patient_Case biolink:Case Patient Case MALE phenopacket.store:HMGCS2.PMID_35308163_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:HMGCS2.PMID_25511235_A1_3 biolink:Case A1-3 phenopacket.store:HMGCS2.PMID_25511235_A1_2 biolink:Case A1.2 phenopacket.store:HMGCS2.PMID_39143735_Case_Presentation biolink:Case Case Presentation FEMALE phenopacket.store:HMGCS2.PMID_25511235_A2_1 biolink:Case A2-1 phenopacket.store:HMGCS2.PMID_29597274_patient_3 biolink:Case patient 3 MALE phenopacket.store:HMGCS2.PMID_31597564_Case_presentation biolink:Case Case presentation MALE phenopacket.store:HMGCS2.PMID_25511235_B2_1 biolink:Case B2-1 phenopacket.store:HMGCS2.PMID_12072887_Case_report biolink:Case Case report FEMALE phenopacket.store:HMGCS2.PMID_25511235_A4_1 biolink:Case A4-1 phenopacket.store:HMGCS2.PMID_35308163_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_1 biolink:Case This study patient 1 MALE phenopacket.store:HMGCS2.PMID_25511235_B6_1 biolink:Case B6-1 phenopacket.store:HMGCS2.PMID_11228257_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:HMGCS2.PMID_25511235_B4_1 biolink:Case B4-1 phenopacket.store:HMGCS2.PMID_35308163_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:HMGCS2.PMID_29597274_patient_2 biolink:Case patient 2 MALE phenopacket.store:HMGCS2.PMID_35308163_Patient_10 biolink:Case Patient 10 MALE phenopacket.store:HMGCS2.PMID_16601895_Case_1 biolink:Case Case 1 MALE phenopacket.store:HMGCS2.PMID_35308163_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:HMGCS2.PMID_25511235_B3_1 biolink:Case B3-1 phenopacket.store:HMGCS2.PMID_25511235_A3_1 biolink:Case A3-1 phenopacket.store:HMGCS2.PMID_35308163_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:HMGCS2.PMID_25511235_A1_1 biolink:Case A1-1 phenopacket.store:HMGCS2.PMID_35308163_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:HMGCS2.PMID_25511235_B1_1 biolink:Case B1-1 phenopacket.store:HMGCS2.PMID_33045405_This_study_patient_2 biolink:Case This study patient 2 FEMALE phenopacket.store:HMGCS2.PMID_35308163_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:HMGCS2.PMID_12647205_index_case biolink:Case index case FEMALE phenopacket.store:HMGCS2.PMID_32851297_proband_G4P3 biolink:Case proband G4P3 FEMALE phenopacket.store:HMGCS2.PMID_25511235_B5_1 biolink:Case B5-1 phenopacket.store:HMGCS2.PMID_35308163_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:HMGCS2.PMID_25511235_A1_4 biolink:Case A1-4 phenopacket.store:HMGCS2.PMID_35308163_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:HMGCS2.PMID_30477625_Ma_and_Yu_2018_patient_1 biolink:Case Ma and Yu (2018) patient 1 FEMALE phenopacket.store:HMGCS2.PMID_11228257_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:HMGCS2.PMID_23751782_Patient_data biolink:Case Patient data MALE phenopacket.store:HMGCS2.PMID_11479731_Patient biolink:Case Patient MALE phenopacket.store:HNF1B.PMID_29491316_12_year_old_boy biolink:Case 12-year-old boy MALE phenopacket.store:HNF1B.PMID_9398836_Family_J2_20_III_3 biolink:Case Family J2-20 III.3 MALE phenopacket.store:HNF1B.PMID_9398836_Family_J2_20_III_2 biolink:Case Family J2-20 III.2 FEMALE phenopacket.store:HNRNPC.PMID_37541189_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:HNRNPC.PMID_37541189_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:HNRNPC.PMID_37541189_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:HNRNPC.PMID_37541189_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:HNRNPC.PMID_37541189_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:HNRNPC.PMID_37541189_Individual_11 biolink:Case Individual 11 FEMALE phenopacket.store:HNRNPC.PMID_37541189_Individual_3 biolink:Case Individual 3 FEMALE phenopacket.store:HNRNPC.PMID_37541189_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:HNRNPC.PMID_37541189_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:HNRNPC.PMID_37541189_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:HNRNPC.PMID_37541189_Individual_13 biolink:Case Individual 13 MALE phenopacket.store:HNRNPC.PMID_37541189_Individual_6_ biolink:Case Individual 6 MALE phenopacket.store:HNRNPC.PMID_37541189_Individual_12_ biolink:Case Individual 12 MALE phenopacket.store:HNRPA2B1.PMID_35484142_F4/P4 biolink:Case F4/P4 FEMALE phenopacket.store:HNRPA2B1.PMID_35484142_F5/P6 biolink:Case F5/P6 FEMALE phenopacket.store:HNRPA2B1.PMID_35484142_F10/P11 biolink:Case F10/P11 FEMALE phenopacket.store:HNRPA2B1.PMID_35484142_F7/P8 biolink:Case F7/P8 MALE phenopacket.store:HNRPA2B1.PMID_35484142_F2/P2 biolink:Case F2/P2 MALE phenopacket.store:HNRPA2B1.PMID_35484142_F4/P5 biolink:Case F4/P5 FEMALE phenopacket.store:HNRPA2B1.PMID_35484142_F9/P10 biolink:Case F9/P10 FEMALE phenopacket.store:HNRPA2B1.PMID_35484142_F1/P1 biolink:Case F1/P1 MALE phenopacket.store:HNRPA2B1.PMID_35484142_F8/P9 biolink:Case F8/P9 MALE phenopacket.store:HNRPA2B1.PMID_35484142_F3/P3 biolink:Case F3/P3 FEMALE phenopacket.store:HNRPA2B1.PMID_35484142_F6/P7 biolink:Case F6/P7 FEMALE phenopacket.store:HOXC13.PMID_28403827_IV_4 biolink:Case IV-4 FEMALE phenopacket.store:HOXC13.PMID_28403827_IV_3 biolink:Case IV-3 FEMALE phenopacket.store:HOXC13.PMID_23063621_individual_IV10 biolink:Case individual IV10 MALE phenopacket.store:HOXC13.PMID_23063621_individual_V3 biolink:Case individual V3 FEMALE phenopacket.store:HOXC13.PMID_28403827_IV_1 biolink:Case IV-1 MALE phenopacket.store:HOXC13.PMID_23063621_individual_V2 biolink:Case individual V2 MALE phenopacket.store:HROB.PMID_38105698_proband biolink:Case proband FEMALE phenopacket.store:HROB.PMID_34707299_nan biolink:Case nan FEMALE phenopacket.store:HROB.PMID_38105698_nan biolink:Case nan FEMALE phenopacket.store:ICOSLG.PMID_30498080_patient_1 biolink:Case patient 1 MALE phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D1 biolink:Case Family D individual D1 FEMALE phenopacket.store:IKZF1.PMID_33122583_patient biolink:Case patient MALE phenopacket.store:IKZF1.PMID_30965037_Patient_1 biolink:Case Patient 1 phenopacket.store:IKZF1.PMID_31057532_Family_D_individual_D_II_2 biolink:Case Family D individual D.II.2 MALE phenopacket.store:IKZF1.PMID_28927821_subject_II_4 biolink:Case subject II:4 FEMALE phenopacket.store:IKZF1.PMID_29461212_case biolink:Case case FEMALE phenopacket.store:IKZF1.PMID_27939403_E_II_1 biolink:Case E.II.1 MALE phenopacket.store:IKZF1.PMID_27939403_F_2 biolink:Case F.2 MALE phenopacket.store:IKZF1.PMID_28096536_patient biolink:Case patient FEMALE phenopacket.store:IKZF1.PMID_28927821_subject_II_3 biolink:Case subject II:3 FEMALE phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_1 biolink:Case Family A individual A.II.1 MALE phenopacket.store:IKZF1.PMID_38734037_sister biolink:Case sister FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B5 biolink:Case Family B individual B5 FEMALE phenopacket.store:IKZF1.PMID_28927821_subject_I_2 biolink:Case subject I:2 FEMALE phenopacket.store:IKZF1.PMID_31069201_Mother biolink:Case Mother FEMALE phenopacket.store:IKZF1.PMID_29889099_Family_G_individual_G_II_2 biolink:Case Family G individual G.II.2 phenopacket.store:IKZF1.PMID_29889099_Family_B biolink:Case Family B phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_1 biolink:Case Family I individual I.II.1 FEMALE phenopacket.store:IKZF1.PMID_38734037_proband biolink:Case proband MALE phenopacket.store:IKZF1.PMID_27939403_C_I_1 biolink:Case C.I.1 MALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F7 biolink:Case Family F individual F7 FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E1 biolink:Case Family E individual E1 MALE phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_I_2 biolink:Case Family A individual A.I.2 FEMALE phenopacket.store:IKZF1.PMID_29889099_Family_E biolink:Case Family E phenopacket.store:IKZF1.PMID_27939403_B_1 biolink:Case B.1 FEMALE phenopacket.store:IKZF1.PMID_21548011_Case_report biolink:Case Case report MALE phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B6 biolink:Case Family B individual B6 MALE phenopacket.store:IKZF1.PMID_27939403_C_II_2 biolink:Case C.II.2 MALE phenopacket.store:IKZF1.PMID_30965037_Patient_2 biolink:Case Patient 2 phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B7 biolink:Case Family B individual B7 FEMALE phenopacket.store:IKZF1.PMID_31057532_Family_F_individual_F_I_1 biolink:Case Family F individual F.I.1 FEMALE phenopacket.store:IKZF1.PMID_27939403_C_II_1 biolink:Case C.II.1 FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B4 biolink:Case Family B individual B4 MALE phenopacket.store:IKZF1.PMID_27939403_D_III_1 biolink:Case D.III.1 MALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F12 biolink:Case Family F individual F12 MALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F8 biolink:Case Family F individual F8 FEMALE phenopacket.store:IKZF1.PMID_31057532_Family_E_individual_E_II_1 biolink:Case Family E individual E.II.1 FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C2 biolink:Case Family C individual C2 FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F5 biolink:Case Family F individual F5 FEMALE phenopacket.store:IKZF1.PMID_31057532_Family_H_individual_H_II_1 biolink:Case Family H individual H.II.1 MALE phenopacket.store:IKZF1.PMID_30965037_Patient_3 biolink:Case Patient 3 phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F4 biolink:Case Family F individual F4 MALE phenopacket.store:IKZF1.PMID_29889099_Family_F biolink:Case Family F phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F2 biolink:Case Family F individual F2 FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F1 biolink:Case Family F individual F1 FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F11 biolink:Case Family F individual F11 MALE phenopacket.store:IKZF1.PMID_35566429_case biolink:Case case MALE phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B1 biolink:Case Family B individual B1 MALE phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B3 biolink:Case Family B individual B3 FEMALE phenopacket.store:IKZF1.PMID_30965037_Patient_4 biolink:Case Patient 4 phenopacket.store:IKZF1.PMID_31069201_Grandfather biolink:Case Grandfather MALE phenopacket.store:IKZF1.PMID_31089937_index_patient_II_1 biolink:Case index patient II.1 MALE phenopacket.store:IKZF1.PMID_31057532_Family_C_individual_C_II_1 biolink:Case Family C individual C.II.1 FEMALE phenopacket.store:IKZF1.PMID_31057532_Family_I_individual_I_II_2 biolink:Case Family I individual I.II.2 FEMALE phenopacket.store:IKZF1.PMID_29889099_Family_C biolink:Case Family C phenopacket.store:IKZF1.PMID_31057532_Family_B_individual_B_II_1 biolink:Case Family B individual B.II.1 MALE phenopacket.store:IKZF1.PMID_33097959_boy biolink:Case boy MALE phenopacket.store:IKZF1.PMID_31089937_case_3_I_1 biolink:Case case 3-I.1 MALE phenopacket.store:IKZF1.PMID_27939403_A_1 biolink:Case A.1 MALE phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C1 biolink:Case Family C individual C1 FEMALE phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_2 biolink:Case Family A individual A.II.2 MALE phenopacket.store:IKZF1.PMID_26981933_Family_C_individual_C3 biolink:Case Family C individual C3 FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A1 biolink:Case Family A individual A1 FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_A_individual_A2 biolink:Case Family A individual A2 MALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F13 biolink:Case Family F individual F13 MALE phenopacket.store:IKZF1.PMID_37771582_Case_description biolink:Case Case description FEMALE phenopacket.store:IKZF1.PMID_27939403_D_I_1 biolink:Case D.I.1 FEMALE phenopacket.store:IKZF1.PMID_29889099_Family_A biolink:Case Family A phenopacket.store:IKZF1.PMID_31057532_Family_G_individual_G_II_2 biolink:Case Family G individual G.II.2 MALE phenopacket.store:IKZF1.PMID_26981933_Family_D_individual_D2 biolink:Case Family D individual D2 FEMALE phenopacket.store:IKZF1.PMID_35479066_index biolink:Case index FEMALE phenopacket.store:IKZF1.PMID_26981933_Family_B_individual_B2 biolink:Case Family B individual B2 MALE phenopacket.store:IKZF1.PMID_33855675_girl biolink:Case girl FEMALE phenopacket.store:IKZF1.PMID_31089937_case_2_II_2 biolink:Case case 2-II.2 FEMALE phenopacket.store:IKZF1.PMID_29889099_Family_D biolink:Case Family D phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F10 biolink:Case Family F individual F10 MALE phenopacket.store:IKZF1.PMID_31057532_Family_A_individual_A_II_3 biolink:Case Family A individual A.II.3 MALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F3 biolink:Case Family F individual F3 MALE phenopacket.store:IKZF1.PMID_26981933_Family_E_individual_E2 biolink:Case Family E individual E2 MALE phenopacket.store:IKZF1.PMID_31069201_Patient biolink:Case Patient MALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F9 biolink:Case Family F individual F9 MALE phenopacket.store:IKZF1.PMID_26981933_Family_F_individual_F6 biolink:Case Family F individual F6 MALE phenopacket.store:INPPL1.PMID_23273567_individual_DII_1 biolink:Case individual DII-1 phenopacket.store:INPPL1.PMID_23273567_individual_AII_2 biolink:Case individual AII-2 phenopacket.store:INPPL1.PMID_23273567_individual_CII_1 biolink:Case individual CII-1 phenopacket.store:INPPL1.PMID_23273567_individual_GII_2 biolink:Case individual GII-2 phenopacket.store:INPPL1.PMID_23273567_individual_FII_2 biolink:Case individual FII-2 phenopacket.store:INPPL1.PMID_23273567_individual_FII_1 biolink:Case individual FII-1 phenopacket.store:INPPL1.PMID_23273567_individual_AII_1 biolink:Case individual AII-1 phenopacket.store:INPPL1.PMID_23273567_individual_BII_1 biolink:Case individual BII-1 phenopacket.store:INPPL1.PMID_23273567_individual_EII_1 biolink:Case individual EII-1 phenopacket.store:INSR.PMID_24498630_ISR3 biolink:Case ISR3 MALE phenopacket.store:INSR.PMID_24498630_ISR1 biolink:Case ISR1 FEMALE phenopacket.store:INSR.PMID_24498630_ISR2 biolink:Case ISR2 MALE phenopacket.store:INTS11.PMID_37054711_Family_5_Subject_7 biolink:Case Family_5_Subject_7 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_9_Subject_12 biolink:Case Family_9_Subject_12 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_10-1_Subject_14 biolink:Case Family_10-1_Subject_14 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_1-1_Subject_2 biolink:Case Family_1-1_Subject_2 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_10-2_Subject_15 biolink:Case Family_10-2_Subject_15 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_4_Subject_6 biolink:Case Family_4_Subject_6 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_2_Subject_3 biolink:Case Family_2_Subject_3 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_8-1_Subject_11 biolink:Case Family_8-1_Subject_11 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_8_Subject_10 biolink:Case Family_8_Subject_10 MALE phenopacket.store:INTS11.PMID_37054711_Family_1_Subject_1 biolink:Case Family_1_Subject_1 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_3_Subject_5 biolink:Case Family_3_Subject_5 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_6_Subject_8 biolink:Case Family_6_Subject_8 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_10_Subject_13 biolink:Case Family_10_Subject_13 FEMALE phenopacket.store:INTS11.PMID_37054711_Family_7_Subject_9 biolink:Case Family_7_Subject_9 MALE phenopacket.store:INTS11.PMID_37054711_Family_2-1_Subject_4 biolink:Case Family_2-1_Subject_4 FEMALE phenopacket.store:IRF1.PMID_36736301_P1 biolink:Case P1 FEMALE phenopacket.store:IRF1.PMID_36736301_P2 biolink:Case P2 FEMALE phenopacket.store:ISCA2.PMID_29122497_29122497_P4 biolink:Case 29122497_P4 FEMALE phenopacket.store:ISCA2.PMID_32424628_32424628_P1 biolink:Case 32424628_P1 MALE phenopacket.store:ISCA2.PMID_29122497_29122497_P5 biolink:Case 29122497_P5 FEMALE phenopacket.store:ISCA2.PMID_29122497_29122497_P3 biolink:Case 29122497_P3 FEMALE phenopacket.store:ISCA2.PMID_29122497_29122497_P1 biolink:Case 29122497_P1 FEMALE phenopacket.store:ISCA2.PMID_25539947_25539947_P1 biolink:Case 25539947_P1 FEMALE phenopacket.store:ISCA2.PMID_29122497_29122497_P9 biolink:Case 29122497_P9 MALE phenopacket.store:ISCA2.PMID_29122497_29122497_P8 biolink:Case 29122497_P8 MALE phenopacket.store:ISCA2.PMID_29297947_29297947_P1 biolink:Case 29297947_P1 MALE phenopacket.store:ISCA2.PMID_29297947_29297947_P2 biolink:Case 29297947_P2 FEMALE phenopacket.store:ISCA2.PMID_31279336_31279336_P1 biolink:Case 31279336_P1 MALE phenopacket.store:ISCA2.PMID_29122497_29122497_P2 biolink:Case 29122497_P2 FEMALE phenopacket.store:ISCA2.PMID_29122497_29122497_P6 biolink:Case 29122497_P6 FEMALE phenopacket.store:ISCA2.PMID_29122497_29122497_P7 biolink:Case 29122497_P7 MALE phenopacket.store:ISCA2.PMID_29359243_29359243_P1 biolink:Case 29359243_P1 FEMALE phenopacket.store:ISCA2.PMID_29122497_29122497_P10 biolink:Case 29122497_P10 MALE phenopacket.store:ITPA.PMID_12384777_Family_6_6A biolink:Case Family 6 6A phenopacket.store:ITPA.PMID_12384777_Family_1_II_2 biolink:Case Family 1 II.2 phenopacket.store:ITPA.PMID_12384777_Family_1_I_1 biolink:Case Family 1 I.1 FEMALE phenopacket.store:ITPA.PMID_12384777_Family_4_4A biolink:Case Family 4 4A phenopacket.store:ITPA.PMID_12384777_Family_3_3A biolink:Case Family 3 3A phenopacket.store:ITPA.PMID_12384777_Family_5_5A biolink:Case Family 5 5A phenopacket.store:ITPR1.PMID_28620721_III_1 biolink:Case III:1 MALE phenopacket.store:ITPR1.PMID_39177731_Case_2_Patient_19 biolink:Case Case 2 (Patient 19) FEMALE phenopacket.store:ITPR1.PMID_27062503_P4 biolink:Case P4 FEMALE phenopacket.store:ITPR1.PMID_27062503_P3 biolink:Case P3 MALE phenopacket.store:ITPR1.PMID_21367767_F34_III_2 biolink:Case F34 III-2 phenopacket.store:ITPR1.PMID_21367767_F34_IV_3 biolink:Case F34 IV-3 phenopacket.store:ITPR1.PMID_22986007_P_Family_C biolink:Case P_Family_C FEMALE phenopacket.store:ITPR1.PMID_31632679_younger_sister biolink:Case younger sister FEMALE phenopacket.store:ITPR1.PMID_29925855_P5 biolink:Case P5 FEMALE phenopacket.store:ITPR1.PMID_15623688_Individual_II_16 biolink:Case Individual II-16 FEMALE phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_12 biolink:Case Family 6947 individual III-12 FEMALE phenopacket.store:ITPR1.PMID_37964426_S6_Y567C biolink:Case S6_ Y567C phenopacket.store:ITPR1.PMID_29186133_daughter_III_1 biolink:Case daughter III-1 FEMALE phenopacket.store:ITPR1.PMID_27062503_P2 biolink:Case P2 FEMALE phenopacket.store:ITPR1.PMID_33949769_participant biolink:Case participant MALE phenopacket.store:ITPR1.PMID_25794864_P4 biolink:Case P4 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_100K_T276P biolink:Case Individual-100K-T276P phenopacket.store:ITPR1.PMID_15623688_Individual_I_2 biolink:Case Individual I-2 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_L605F biolink:Case Individual-L605F phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_1 biolink:Case Individual-T267A-1 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_I2598T biolink:Case Individual-100K-I2598T phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_4 biolink:Case Family 6947 individual III-4 FEMALE phenopacket.store:ITPR1.PMID_29169895_patient_2_sister biolink:Case patient 2 sister FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_L1688P biolink:Case Individual-L1688P phenopacket.store:ITPR1.PMID_27108798_2021_2021 biolink:Case 2021_2021 FEMALE phenopacket.store:ITPR1.PMID_37154409_A_III_6 biolink:Case A III-6 FEMALE phenopacket.store:ITPR1.PMID_28488678_V_1 biolink:Case V:1 MALE phenopacket.store:ITPR1.PMID_28698159_P2 biolink:Case P2 FEMALE phenopacket.store:ITPR1.PMID_29925855_P4 biolink:Case P4 MALE phenopacket.store:ITPR1.PMID_27108798_SVP biolink:Case SVP FEMALE phenopacket.store:ITPR1.PMID_31632679_oldest_sister biolink:Case oldest sister FEMALE phenopacket.store:ITPR1.PMID_35743164_P7 biolink:Case P7 MALE phenopacket.store:ITPR1.PMID_29186133_proband_II_3 biolink:Case proband II-3 FEMALE phenopacket.store:ITPR1.PMID_29169895_proband biolink:Case proband MALE phenopacket.store:ITPR1.PMID_35743164_P19 biolink:Case P19 MALE phenopacket.store:ITPR1.PMID_37964426_S6_T267M biolink:Case S6_T267M phenopacket.store:ITPR1.PMID_27108797_F3_II1 biolink:Case F3:II1 FEMALE phenopacket.store:ITPR1.PMID_28620721_III_2 biolink:Case III:2 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_2 biolink:Case Individual-V1562M-2 phenopacket.store:ITPR1.PMID_21367767_F39_III_4 biolink:Case F39 III-4 phenopacket.store:ITPR1.PMID_15623688_Individual_II_12 biolink:Case Individual II-12 MALE phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_10 biolink:Case Family 6947 individual III-10 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_2 biolink:Case Individual-R269W-2 phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_3 biolink:Case Individual-F2594S-3 phenopacket.store:ITPR1.PMID_37964426_Individual_A275T biolink:Case Individual-A275T phenopacket.store:ITPR1.PMID_36233161_MD_106 biolink:Case MD-106 MALE phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_4 biolink:Case Individual-V1562M-4 phenopacket.store:ITPR1.PMID_35743164_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_I595V biolink:Case Individual-I595V phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_1 biolink:Case Individual-G2554R-1 phenopacket.store:ITPR1.PMID_28488678_V_2 biolink:Case V:2 MALE phenopacket.store:ITPR1.PMID_29925855_P3 biolink:Case P3 MALE phenopacket.store:ITPR1.PMID_25794864_P1 biolink:Case P1 FEMALE phenopacket.store:ITPR1.PMID_28620721_II_3 biolink:Case II:3 FEMALE phenopacket.store:ITPR1.PMID_37154409_B_I_1 biolink:Case B I-1 FEMALE phenopacket.store:ITPR1.PMID_35148930_Case_report biolink:Case Case report MALE phenopacket.store:ITPR1.PMID_37964426_Individual_T267A_2 biolink:Case Individual-T267A-2 phenopacket.store:ITPR1.PMID_25981959_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:ITPR1.PMID_29925855_P2 biolink:Case P2 FEMALE phenopacket.store:ITPR1.PMID_15623688_Individual_II_15 biolink:Case Individual II-15 MALE phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_2 biolink:Case Family E037 individual II-2 FEMALE phenopacket.store:ITPR1.PMID_34338282_GLSP_family_4 biolink:Case GLSP family 4 phenopacket.store:ITPR1.PMID_37964426_S6_N2591T biolink:Case S6_N2591T phenopacket.store:ITPR1.PMID_26770814_patient_AP_III_1 biolink:Case patient AP III-1 MALE phenopacket.store:ITPR1.PMID_37821226_P3 biolink:Case P3 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_3 biolink:Case Individual-G2554R-3 phenopacket.store:ITPR1.PMID_20082166_Family_E037_individual_II_4 biolink:Case Family E037 individual II-4 MALE phenopacket.store:ITPR1.PMID_27108798_263220 biolink:Case 263220 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_1 biolink:Case Individual-D34V-1 phenopacket.store:ITPR1.PMID_35743164_P1 biolink:Case P1 MALE phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_6 biolink:Case Family 6947 individual III-6 MALE phenopacket.store:ITPR1.PMID_37964426_Individual_D34V_2 biolink:Case Individual-D34V-2 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K1554_A1557del biolink:Case Individual-100K-K1554_A1557del phenopacket.store:ITPR1.PMID_22986007_Family_C_father_II_2 biolink:Case Family C father II-2 MALE phenopacket.store:ITPR1.PMID_37821226_P2 biolink:Case P2 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_3 biolink:Case Individual-R269W-3 phenopacket.store:ITPR1.PMID_27108797_F2_II1 biolink:Case F2:II1 FEMALE phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_2 biolink:Case Family 6947 individual III-2 MALE phenopacket.store:ITPR1.PMID_37964426_Individual_L2611del biolink:Case Individual-L2611del phenopacket.store:ITPR1.PMID_37964426_Individual_N2591T biolink:Case Individual-N2591T phenopacket.store:ITPR1.PMID_28488678_V_3 biolink:Case V:3 FEMALE phenopacket.store:ITPR1.PMID_29663667_sibling_II_2 biolink:Case sibling II-2 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_4 biolink:Case Individual-G2554R-4 phenopacket.store:ITPR1.PMID_35743164_P15 biolink:Case P15 FEMALE phenopacket.store:ITPR1.PMID_34338282_GLSP_family_3 biolink:Case GLSP family 3 phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_5 biolink:Case Individual-G2554R-5 phenopacket.store:ITPR1.PMID_28488678_IV_5 biolink:Case IV:5 MALE phenopacket.store:ITPR1.PMID_37964426_Individual_100K_K279E biolink:Case Individual-100K-K279E phenopacket.store:ITPR1.PMID_15623688_Individual_II_2 biolink:Case Individual II-2 MALE phenopacket.store:ITPR1.PMID_15623688_Individual_IV_2 biolink:Case Individual IV-2 FEMALE phenopacket.store:ITPR1.PMID_28826917_Patient_B biolink:Case Patient B FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_1 biolink:Case Individual-R269W-1 phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_3 biolink:Case Individual-V1562M-3 phenopacket.store:ITPR1.PMID_27862915_patient biolink:Case patient FEMALE phenopacket.store:ITPR1.PMID_35743164_P16 biolink:Case P16 FEMALE phenopacket.store:ITPR1.PMID_29663667_sibling_II_1 biolink:Case sibling II-1 MALE phenopacket.store:ITPR1.PMID_34338282_GLSP_family_1 biolink:Case GLSP family 1 phenopacket.store:ITPR1.PMID_21367767_F49_III_3 biolink:Case F49 III-3 phenopacket.store:ITPR1.PMID_29925855_P1 biolink:Case P1 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_1 biolink:Case Individual-F2594S-1 phenopacket.store:ITPR1.PMID_21367767_F34_IV_4 biolink:Case F34 IV-4 phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_1 biolink:Case Individual-G2550R-1 phenopacket.store:ITPR1.PMID_36233161_MD_320 biolink:Case MD-320 MALE phenopacket.store:ITPR1.PMID_35743164_P12 biolink:Case P12 FEMALE phenopacket.store:ITPR1.PMID_37964426_S6_L1688P biolink:Case S6_L1688P phenopacket.store:ITPR1.PMID_15623688_Individual_III_6 biolink:Case Individual III-6 FEMALE phenopacket.store:ITPR1.PMID_37964426_S6_I595V biolink:Case S6_I595V phenopacket.store:ITPR1.PMID_35743164_P18 biolink:Case P18 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_6 biolink:Case Individual-G2554R-6 phenopacket.store:ITPR1.PMID_37964426_S6_L2611del biolink:Case S6_L2611del phenopacket.store:ITPR1.PMID_34338282_GLSP_family_2 biolink:Case GLSP family 2 phenopacket.store:ITPR1.PMID_37964426_Individual_E106K biolink:Case Individual-E106K phenopacket.store:ITPR1.PMID_37964426_Individual_R269W_4 biolink:Case Individual-R269W-4 phenopacket.store:ITPR1.PMID_27108798_SW biolink:Case SW FEMALE phenopacket.store:ITPR1.PMID_35743164_Patient_10 biolink:Case Patient 10 FEMALE phenopacket.store:ITPR1.PMID_37821226_P1 biolink:Case P1 MALE phenopacket.store:ITPR1.PMID_37964426_Individual_100K_E1449A biolink:Case Individual-100K-E1449A phenopacket.store:ITPR1.PMID_27108798_91_91 biolink:Case 91_91 FEMALE phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_IV_8 biolink:Case Family 6947 individual IV-8 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_G2554R_2 biolink:Case Individual-G2554R-2 phenopacket.store:ITPR1.PMID_28826917_Patient_A biolink:Case Patient A FEMALE phenopacket.store:ITPR1.PMID_21367767_F39_II_3 biolink:Case F39 II-3 phenopacket.store:ITPR1.PMID_27108798_261348 biolink:Case 261348 MALE phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_II_1 biolink:Case Family 6947 individual II-1 FEMALE phenopacket.store:ITPR1.PMID_35743164_P11 biolink:Case P11 MALE phenopacket.store:ITPR1.PMID_27062503_P1 biolink:Case P1 MALE phenopacket.store:ITPR1.PMID_29925855_P7 biolink:Case P7 MALE phenopacket.store:ITPR1.PMID_37964426_S6_L1873_V1874delins biolink:Case S6_L1873_V1874delins phenopacket.store:ITPR1.PMID_37964426_Individual_F2594S_2 biolink:Case Individual-F2594S-2 phenopacket.store:ITPR1.PMID_15623688_Individual_II_3 biolink:Case Individual II-3 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_T267M biolink:Case Individual-T267M phenopacket.store:ITPR1.PMID_24091540_nan biolink:Case nan FEMALE phenopacket.store:ITPR1.PMID_34673285_man biolink:Case man MALE phenopacket.store:ITPR1.PMID_32496011_proband biolink:Case proband MALE phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_2 biolink:Case Individual-R36C-2 phenopacket.store:ITPR1.PMID_28488678_V_5 biolink:Case V:5 MALE phenopacket.store:ITPR1.PMID_20082166_Family_6947_individual_III_11 biolink:Case Family 6947 individual III-11 MALE phenopacket.store:ITPR1.PMID_28600779_ITPR1 biolink:Case ITPR1 phenopacket.store:ITPR1.PMID_25981959_Case_3 biolink:Case Case 3 MALE phenopacket.store:ITPR1.PMID_15623688_Individual_II_6 biolink:Case Individual II-6 FEMALE phenopacket.store:ITPR1.PMID_36233161_MD_041 biolink:Case MD-041 MALE phenopacket.store:ITPR1.PMID_37154409_BII_2 biolink:Case BII-2 MALE phenopacket.store:ITPR1.PMID_37964426_Individual_Y567C biolink:Case Individual-Y567C phenopacket.store:ITPR1.PMID_39177731_Case_1_Patient_6 biolink:Case Case 1 (Patient 6) MALE phenopacket.store:ITPR1.PMID_34338282_GLSP_family_5 biolink:Case GLSP family 5 phenopacket.store:ITPR1.PMID_21367767_F48_II_3 biolink:Case F48 II-3 phenopacket.store:ITPR1.PMID_22986007_Family_C_proband_III_2 biolink:Case Family C proband III-2 FEMALE phenopacket.store:ITPR1.PMID_37964426_S6_A275T biolink:Case S6_A275T phenopacket.store:ITPR1.PMID_29925855_P6 biolink:Case P6 MALE phenopacket.store:ITPR1.PMID_37964426_Individual_100K_V1562M biolink:Case Individual-100K-V1562M phenopacket.store:ITPR1.PMID_35743164_P2 biolink:Case P2 FEMALE phenopacket.store:ITPR1.PMID_15623688_Individual_II_13 biolink:Case Individual II-13 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_G2550R_2 biolink:Case Individual-G2550R-2 phenopacket.store:ITPR1.PMID_15623688_Individual_II_9 biolink:Case Individual II-9 FEMALE phenopacket.store:ITPR1.PMID_28488678_IV_3 biolink:Case IV:3 FEMALE phenopacket.store:ITPR1.PMID_30249237_proband biolink:Case proband FEMALE phenopacket.store:ITPR1.PMID_25794864_P3 biolink:Case P3 MALE phenopacket.store:ITPR1.PMID_25794864_P2 biolink:Case P2 MALE phenopacket.store:ITPR1.PMID_27108797_F5_II1 biolink:Case F5:II1 FEMALE phenopacket.store:ITPR1.PMID_37964426_Individual_V1562M_1 biolink:Case Individual-V1562M-1 phenopacket.store:ITPR1.PMID_37154409_A_III_7 biolink:Case A III-7 FEMALE phenopacket.store:ITPR1.PMID_21367767_F48_III_1 biolink:Case F48 III-1 phenopacket.store:ITPR1.PMID_37964426_Individual_R36C_1 biolink:Case Individual-R36C-1 phenopacket.store:ITPR1.PMID_37964426_Individual_100K_R269W biolink:Case Individual-100K-R269W phenopacket.store:ITPR1.PMID_21367767_F48_III_7 biolink:Case F48 III-7 phenopacket.store:ITPR1.PMID_31340402_patient biolink:Case patient MALE phenopacket.store:ITPR1.PMID_28698159_P1 biolink:Case P1 FEMALE phenopacket.store:ITPR1.PMID_27108797_F1_II1 biolink:Case F1:II1 FEMALE phenopacket.store:ITPR1.PMID_37154409_C_II_2 biolink:Case C II-2 FEMALE phenopacket.store:ITPR1.PMID_27108797_F4_II1 biolink:Case F4:II1 FEMALE phenopacket.store:JAG1.PMID_30046498_proband biolink:Case proband MALE phenopacket.store:KCNH5.PMID_36307226_Proband_11 biolink:Case Proband 11 FEMALE phenopacket.store:KCNH5.PMID_38708366_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:KCNH5.PMID_36307226_Proband_4 biolink:Case Proband 4 FEMALE phenopacket.store:KCNH5.PMID_36307226_Proband_16 biolink:Case Proband 16 FEMALE phenopacket.store:KCNH5.PMID_23647072_Proband_F biolink:Case Proband F MALE phenopacket.store:KCNH5.PMID_36307226_Proband_1 biolink:Case Proband 1 MALE phenopacket.store:KCNH5.PMID_36307226_Proband_9 biolink:Case Proband 9 FEMALE phenopacket.store:KCNH5.PMID_36307226_Proband_10 biolink:Case Proband 10 MALE phenopacket.store:KCNH5.PMID_32725632_patient_25 biolink:Case patient 25 MALE phenopacket.store:KCNH5.PMID_36307226_Proband_7 biolink:Case Proband 7 MALE phenopacket.store:KCNH5.PMID_38708366_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:KCNH5.PMID_36307226_Proband_13 biolink:Case Proband 13 FEMALE phenopacket.store:KCNH5.PMID_36307226_Proband_5 biolink:Case Proband 5 FEMALE phenopacket.store:KCNH5.PMID_35874597_Case_1 biolink:Case Case 1 MALE phenopacket.store:KCNH5.PMID_38708366_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:KCNH5.PMID_35874597_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:KCNH5.PMID_36307226_Proband_15 biolink:Case Proband 15 FEMALE phenopacket.store:KCNH5.PMID_36307226_Proband_3 biolink:Case Proband 3 MALE phenopacket.store:KCNH5.PMID_36307226_Proband_6 biolink:Case Proband 6 FEMALE phenopacket.store:KCNH5.PMID_36307226_Proband_17 biolink:Case Proband 17 FEMALE phenopacket.store:KCNH5.PMID_36307226_Proband_14 biolink:Case Proband 14 FEMALE phenopacket.store:KCNH5.PMID_38708366_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:KCNH5.PMID_36307226_Proband_12 biolink:Case Proband 12 FEMALE phenopacket.store:KCNH5.PMID_36307226_Proband_2 biolink:Case Proband 2 MALE phenopacket.store:KCNH5.PMID_35874597_Case_3 biolink:Case Case 3 MALE phenopacket.store:KCNH5.PMID_36307226_Proband_8 biolink:Case Proband 8 FEMALE phenopacket.store:KCNH5.PMID_38708366_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:KCNJ2.PMID_22155372_8_year_old_girl biolink:Case 8-year-old girl FEMALE phenopacket.store:KCNJ2.PMID_15761194_III_1 biolink:Case III-1 FEMALE phenopacket.store:KCNJ2.PMID_15761194_II_2 biolink:Case II-2 MALE phenopacket.store:KCNJ2.PMID_23440193_11_y_old_boy biolink:Case 11-y-old boy MALE phenopacket.store:KCNQ1.PMID_29037160_Case_1_family_I biolink:Case Case 1 (family-I) FEMALE phenopacket.store:KCNQ1.PMID_29037160_Case_2_family_II biolink:Case Case 2 (family II) FEMALE phenopacket.store:KCNQ1.PMID_29037160_Case_3_family_III biolink:Case Case 3 (family III) MALE phenopacket.store:KCNT1.PMID_23086397_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:KCNT1.PMID_24029078_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:KCNT1.PMID_23086397_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:KCNT1.PMID_23086397_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:KCNT1.PMID_23086397_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:KCNT1.PMID_23086397_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:KCNT1.PMID_24029078_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:KCNT1.PMID_23086397_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:KDM5A.PMID_33350388_Patient_KD_3_3 biolink:Case Patient KD-3-3 MALE phenopacket.store:KDM5A.PMID_33350388_Patient_KD_1_3 biolink:Case Patient KD-1-3 FEMALE phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_3 biolink:Case Patient KD-4-3 FEMALE phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_3 biolink:Case Patient KD-2-3 FEMALE phenopacket.store:KDM5A.PMID_33350388_Patient_KD_2_4 biolink:Case Patient KD-2-4 MALE phenopacket.store:KDM5A.PMID_33350388_Patient_KD_5_3 biolink:Case Patient KD-5-3 FEMALE phenopacket.store:KDM5A.PMID_33350388_Patient_KD_4_4 biolink:Case Patient KD-4-4 MALE phenopacket.store:KDM5A.PMID_33350388_Patient_KD_6_3 biolink:Case Patient KD-6-3 FEMALE phenopacket.store:KDM5A.PMID_33350388_Patient_KD_7_3 biolink:Case Patient KD-7-3 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_52_This_study biolink:Case Patient 52-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_19_Banka_2015_Clin_Genet_87_252 biolink:Case Patient 19-Banka (2015) Clin Genet 87, 252 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_61_Banka_2015_Clin_Genet_87_252 biolink:Case Patient 61-Banka (2015) Clin Genet 87, 252 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_24_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 24-Bögershausen (2016) Hum Mutat 37, 847 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_59_This_study biolink:Case Patient 59-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_47_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:Case Patient 47-Lederer (2014) Am J Med Genet A 164, 1289 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_29_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 29-Bögershausen (2016) Hum Mutat 37, 847 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_75_This_study biolink:Case Patient 75-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_66_This_study biolink:Case Patient 66-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_13_Yap_2019_Genet_Med_21_233 biolink:Case Patient 13-Yap (2019) Genet Med 21, 233 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_32_This_study biolink:Case Patient 32-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_69_This_study biolink:Case Patient 69-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_11_This_study biolink:Case Patient 11-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_72_This_study biolink:Case Patient 72-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_4_This_study biolink:Case Patient 4-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_38_This_study biolink:Case Patient 38-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_49_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:Case Patient 49-Lederer (2014) Am J Med Genet A 164, 1289 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_31_This_study biolink:Case Patient 31-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_48_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:Case Patient 48-Lederer (2014) Am J Med Genet A 164, 1289 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_37_Miyake_2012_Hum_Mutat_34_108 biolink:Case Patient 37-Miyake (2012) Hum Mutat 34, 108 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_54_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:Case Patient 54-Margot (2016) Am J Med Genet A 170, 3363 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_18_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 18-Bögershausen (2016) Hum Mutat 37, 847 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_9_Porntaveetus_2018_Int_J_Biol_Sci_14_381 biolink:Case Patient 9-Porntaveetus (2018) Int J Biol Sci 14, 381 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_27_Yap_2019_Genet_Med_21_233 biolink:Case Patient 27-Yap (2019) Genet Med 21, 233 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_2_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:Case Patient 2-Lederer (2012) Am J Hum Genet 173, 2912 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_22_This_study biolink:Case Patient 22-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_16_This_study biolink:Case Patient 16-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_62_Miyake_2012_Hum_Mutat_34_108 biolink:Case Patient 62-Miyake (2012) Hum Mutat 34, 108 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_39_This_study biolink:Case Patient 39-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_51_This_study biolink:Case Patient 51-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_45_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 45-Bögershausen (2016) Hum Mutat 37, 847 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_3_Yang_2016_Am_J_Med_Genet_A_170_1613 biolink:Case Patient 3-Yang (2016) Am J Med Genet A 170, 1613 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_43_This_study biolink:Case Patient 43-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_63_Banka_2015_Clin_Genet_87_252 biolink:Case Patient 63-Banka (2015) Clin Genet 87, 252 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_53_Margot_2016_Am_J_Med_Genet_A_170_3363 biolink:Case Patient 53-Margot (2016) Am J Med Genet A 170, 3363 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_25_This_study biolink:Case Patient 25-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_36_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:Case Patient 36-Kim (2017) Ann Clin Lab Sci 47, 229 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_6_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 6-Bögershausen (2016) Hum Mutat 37, 847 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_21_Gole_2016_Clin_Pract_6_848 biolink:Case Patient 21-Gole (2016) Clin Pract 6, 848 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_30_This_study biolink:Case Patient 30-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_68_This_study biolink:Case Patient 68-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_7_Lindgren_2013_Hum_Genet_132_537 biolink:Case Patient 7-Lindgren (2013) Hum Genet 132, 537 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_10_Guo_2018_BMC_Med_Genet_19_206 biolink:Case Patient 10-Guo (2018) BMC Med Genet 19, 206 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_55_This_study biolink:Case Patient 55-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_17_This_study biolink:Case Patient 17-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_46_Lederer_2014_Am_J_Med_Genet_A_164_1289 biolink:Case Patient 46-Lederer (2014) Am J Med Genet A 164, 1289 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_70_Miyake_2012_Hum_Mutat_34_108 biolink:Case Patient 70-Miyake (2012) Hum Mutat 34, 108 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_73_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 73-Bögershausen (2016) Hum Mutat 37, 847 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_1_This_study biolink:Case Patient 1-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_56_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 56-Bögershausen (2016) Hum Mutat 37, 847 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_28_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 28-Bögershausen (2016) Hum Mutat 37, 847 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_78_Banka_2015_Clin_Genet_87_252 biolink:Case Patient 78-Banka (2015) Clin Genet 87, 252 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_80_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:Case Patient 80-Miyake (2013) Am J Med Genet A 161, 2234 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_65_Banka_2015_Clin_Genet_87_252 biolink:Case Patient 65-Banka (2015) Clin Genet 87, 252 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_33_Van_Laarhoven_2015_Hum_Mol_Genet_24_4443 biolink:Case Patient 33-Van Laarhoven (2015) Hum Mol Genet 24, 4443 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_76_Frans_2016_Am_J_Med_Genet_A_170_801 biolink:Case Patient 76-Frans (2016) Am J Med Genet A 170, 801 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_42_Yap_2019_Genet_Med_21_233 biolink:Case Patient 42-Yap (2019) Genet Med 21, 233 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_15_This_study biolink:Case Patient 15-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_8_Yap_2019_Genet_Med_21_233 biolink:Case Patient 8-Yap (2019) Genet Med 21, 233 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_71_Van_Laarhoven_2015_Hum_Mol_Genet_24_4443 biolink:Case Patient 71-Van Laarhoven (2015) Hum Mol Genet 24, 4443 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_67_This_study biolink:Case Patient 67-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_50_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 50-Bögershausen (2016) Hum Mutat 37, 847 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_5_Bögershausen_2016_Hum_Mutat_37_847 biolink:Case Patient 5-Bögershausen (2016) Hum Mutat 37, 847 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_34_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:Case Patient 34-Kim (2017) Ann Clin Lab Sci 47, 229 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_57_This_study biolink:Case Patient 57-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_12_Yap_2019_Genet_Med_21_233 biolink:Case Patient 12-Yap (2019) Genet Med 21, 233 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_64_This_study biolink:Case Patient 64-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_23_Banka_2015_Clin_Genet_87_252 biolink:Case Patient 23-Banka (2015) Clin Genet 87, 252 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_74_This_study biolink:Case Patient 74-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_14_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:Case Patient 14-Lederer (2012) Am J Hum Genet 173, 2912 MALE phenopacket.store:KDM6A.PMID_33674768_Patient_79_This_study biolink:Case Patient 79-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_41_This_study biolink:Case Patient 41-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_60_This_study biolink:Case Patient 60-This study MALE phenopacket.store:KDM6A.PMID_33674768_Patient_40_Miyake_2013_Am_J_Med_Genet_A_161_2234 biolink:Case Patient 40-Miyake (2013) Am J Med Genet A 161, 2234 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_58_Lederer_2012_Am_J_Hum_Genet_173_2912 biolink:Case Patient 58-Lederer (2012) Am J Hum Genet 173, 2912 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_35_Kim_2017_Ann_Clin_Lab_Sci_47_229 biolink:Case Patient 35-Kim (2017) Ann Clin Lab Sci 47, 229 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_20_This_study biolink:Case Patient 20-This study FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_77_Cheon_2014_J_Hum_Genet_59_321 biolink:Case Patient 77-Cheon (2014) J Hum Genet 59, 321 FEMALE phenopacket.store:KDM6A.PMID_33674768_Patient_44_This_study biolink:Case Patient 44-This study FEMALE phenopacket.store:KDM6A.PMID_30509212_male biolink:Case male MALE phenopacket.store:KDM6A.PMID_33674768_Patient_26_Banka_2015_Clin_Genet_87_252 biolink:Case Patient 26-Banka (2015) Clin Genet 87, 252 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_16 biolink:Case Individual 16 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_13 biolink:Case Individual 13 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_11 biolink:Case Individual 11 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_73 biolink:Case Individual 73 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_85 biolink:Case Individual 85 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_77 biolink:Case Individual 77 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_23 biolink:Case Individual 23 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_41_(DDD_274859) biolink:Case Individual 41 (DDD_274859) FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_71 biolink:Case Individual 71 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_51_(ASC_80001103038) biolink:Case Individual 51 (ASC_80001103038) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_20 biolink:Case Individual 20 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_40_(DDD_304502) biolink:Case Individual 40 (DDD_304502) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_54_(SSC_13675.p1) biolink:Case Individual 54 (SSC_13675.p1) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_63_(MSSNG_2-1764-003) biolink:Case Individual 63 (MSSNG_2-1764-003) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_38 biolink:Case Individual 38 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_48_(TAS_F3039Y) biolink:Case Individual 48 (TAS_F3039Y) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_65 biolink:Case Individual 65 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_53_(SSC_11329.p1) biolink:Case Individual 53 (SSC_11329.p1) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_60_(MSSNG_AU4427301) biolink:Case Individual 60 (MSSNG_AU4427301) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_52_(SSC_12683.p1) biolink:Case Individual 52 (SSC_12683.p1) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_27 biolink:Case Individual 27 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_56_(ASP009) biolink:Case Individual 56 (ASP009) FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_22 biolink:Case Individual 22 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_72 biolink:Case Individual 72 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_83 biolink:Case Individual 83 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_42_(DDD_292095) biolink:Case Individual 42 (DDD_292095) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_70 biolink:Case Individual 70 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_50_(DEASD_0129_001) biolink:Case Individual 50 (DEASD_0129_001) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_26 biolink:Case Individual 26 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_76 biolink:Case Individual 76 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_59_(DDD_306396) biolink:Case Individual 59 (DDD_306396) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_82 biolink:Case Individual 82 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_62_(MSSNG_AU2168301) biolink:Case Individual 62 (MSSNG_AU2168301) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_31 biolink:Case Individual 31 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_32 biolink:Case Individual 32 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_12 biolink:Case Individual 12 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_29 biolink:Case Individual 29 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_28 biolink:Case Individual 28 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_39 biolink:Case Individual 39 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_6 biolink:Case Individual 6 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_67 biolink:Case Individual 67 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_21 biolink:Case Individual 21 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_75 biolink:Case Individual 75 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_34 biolink:Case Individual 34 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_47_(DDD_303829) biolink:Case Individual 47 (DDD_303829) FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_61_(MSSNG_MT_48.3) biolink:Case Individual 61 (MSSNG_MT_48.3) FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_45_(DDD_111002863) biolink:Case Individual 45 (DDD_111002863) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_57_(PCGC_1-03321) biolink:Case Individual 57 (PCGC_1-03321) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_46_(DDD_118000039) biolink:Case Individual 46 (DDD_118000039) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_17_(published_as_Individual_1_in_Bramswig_et_al.,_2017) biolink:Case Individual 17 (published as Individual 1 in Bramswig et al., 2017) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_84 biolink:Case Individual 84 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_55_(SSC_13446.p1) biolink:Case Individual 55 (SSC_13446.p1) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_37 biolink:Case Individual 37 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_68 biolink:Case Individual 68 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_25 biolink:Case Individual 25 FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_49_(DEASD_0146_001) biolink:Case Individual 49 (DEASD_0146_001) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_58_(DDD_305030) biolink:Case Individual 58 (DDD_305030) MALE phenopacket.store:KDM6B.PMID_37196654_Individual_33 biolink:Case Individual 33 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_74 biolink:Case Individual 74 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_44_(DDD_286674) biolink:Case Individual 44 (DDD_286674) FEMALE phenopacket.store:KDM6B.PMID_37196654_Individual_18 biolink:Case Individual 18 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_19 biolink:Case Individual 19 MALE phenopacket.store:KDM6B.PMID_37196654_Individual_24 biolink:Case Individual 24 FEMALE phenopacket.store:KIF5A.PMID_15452312_III_5 biolink:Case III-5 FEMALE phenopacket.store:KIF5A.PMID_15452312_II_10 biolink:Case II-10 MALE phenopacket.store:KIF5A.PMID_15452312_III_10 biolink:Case III-10 MALE phenopacket.store:KIF5A.PMID_15452312_II_5 biolink:Case II-5 MALE phenopacket.store:KIF5A.PMID_30057544_patient biolink:Case patient MALE phenopacket.store:KMT2D.PMID_25142838_P12 biolink:Case P12 FEMALE phenopacket.store:KMT2D.PMID_24739679_patient_K2 biolink:Case patient K2 FEMALE phenopacket.store:KMT2D.PMID_31727177_patient_1 biolink:Case patient 1 FEMALE phenopacket.store:KMT2D.PMID_27991736_proband_III_2 biolink:Case proband III-2 FEMALE phenopacket.store:KMT2D.PMID_24739679_patient_K9 biolink:Case patient K9 FEMALE phenopacket.store:KMT2D.PMID_31727177_patient_6 biolink:Case patient 6 MALE phenopacket.store:KMT2D.PMID_25142838_P1 biolink:Case P1 FEMALE phenopacket.store:KMT2D.PMID_32083401_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:KMT2D.PMID_29914387_patient biolink:Case patient FEMALE phenopacket.store:KMT2D.PMID_31949313_F3_II_1 biolink:Case F3;II:1 MALE phenopacket.store:KMT2D.PMID_25142838_P11 biolink:Case P11 FEMALE phenopacket.store:KMT2D.PMID_31949313_F4_II_5 biolink:Case F4;II:5 MALE phenopacket.store:KMT2D.PMID_25896430_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:KMT2D.PMID_31727177_patient_5 biolink:Case patient 5 MALE phenopacket.store:KMT2D.PMID_25142838_P9 biolink:Case P9 MALE phenopacket.store:KMT2D.PMID_31846209_patient biolink:Case patient FEMALE phenopacket.store:KMT2D.PMID_25896430_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:KMT2D.PMID_27991736_proband_III_1 biolink:Case proband III-1 MALE phenopacket.store:KMT2D.PMID_24739679_patient_K7 biolink:Case patient K7 MALE phenopacket.store:KMT2D.PMID_29482518_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:KMT2D.PMID_31949313_F4_II_9 biolink:Case F4;II:9 FEMALE phenopacket.store:KMT2D.PMID_29482518_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:KMT2D.PMID_24739679_patient_K11 biolink:Case patient K11 MALE phenopacket.store:KMT2D.PMID_25896430_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:KMT2D.PMID_31949313_F2_II_1 biolink:Case F2;II:1 MALE phenopacket.store:KMT2D.PMID_31727177_patient_2 biolink:Case patient 2 FEMALE phenopacket.store:KMT2D.PMID_25896430_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:KMT2D.PMID_25896430_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:KMT2D.PMID_31282990_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:KMT2D.PMID_25142838_P8 biolink:Case P8 MALE phenopacket.store:KMT2D.PMID_31727177_patient_7 biolink:Case patient 7 FEMALE phenopacket.store:KMT2D.PMID_24739679_patient_K10 biolink:Case patient K10 FEMALE phenopacket.store:KMT2D.PMID_31949313_F6_II_1 biolink:Case F6;II:1 MALE phenopacket.store:KMT2D.PMID_35060672_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:KMT2D.PMID_32083401_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:KMT2D.PMID_31282990_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:KMT2D.PMID_25142838_P2 biolink:Case P2 FEMALE phenopacket.store:KMT2D.PMID_25142838_P5_3 biolink:Case P5-3 FEMALE phenopacket.store:KMT2D.PMID_32083401_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:KMT2D.PMID_24739679_patient_K6 biolink:Case patient K6 FEMALE phenopacket.store:KMT2D.PMID_32083401_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:KMT2D.PMID_25142838_P4 biolink:Case P4 FEMALE phenopacket.store:KMT2D.PMID_24739679_patient_K8 biolink:Case patient K8 FEMALE phenopacket.store:KMT2D.PMID_27573763_patient biolink:Case patient FEMALE phenopacket.store:KMT2D.PMID_24019847_patient biolink:Case patient MALE phenopacket.store:KMT2D.PMID_25896430_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:KMT2D.PMID_31949313_F5_II_1 biolink:Case F5;II:1 MALE phenopacket.store:KMT2D.PMID_25142838_P6 biolink:Case P6 MALE phenopacket.store:KMT2D.PMID_24739679_patient_K1 biolink:Case patient K1 MALE phenopacket.store:KMT2D.PMID_24739679_patient_K4 biolink:Case patient K4 FEMALE phenopacket.store:KMT2D.PMID_25896430_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:KMT2D.PMID_25896430_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:KMT2D.PMID_31949313_F7_II_1 biolink:Case F7;II:1 MALE phenopacket.store:KMT2D.PMID_31949313_F1_II_1 biolink:Case F1;II:1 FEMALE phenopacket.store:KMT2D.PMID_25142838_P5_1 biolink:Case P5-1 MALE phenopacket.store:KMT2D.PMID_25142838_P10 biolink:Case P10 MALE phenopacket.store:KMT2D.PMID_31727177_patient_4 biolink:Case patient 4 FEMALE phenopacket.store:KMT2D.PMID_35060672_female_infant_VI1 biolink:Case female infant VI1 FEMALE phenopacket.store:KMT2D.PMID_25142838_P5_2 biolink:Case P5-2 MALE phenopacket.store:KMT2D.PMID_25142838_P7 biolink:Case P7 FEMALE phenopacket.store:KMT2D.PMID_25142838_P3 biolink:Case P3 FEMALE phenopacket.store:KMT2D.PMID_31949313_F4_I_1 biolink:Case F4;I:1 MALE phenopacket.store:KMT2D.PMID_24739679_patient_K3 biolink:Case patient K3 FEMALE phenopacket.store:KMT2D.PMID_27991736_proband_II_2 biolink:Case proband II-2 FEMALE phenopacket.store:KMT2D.PMID_31949313_F6_I_2 biolink:Case F6;I:2 FEMALE phenopacket.store:KRAS.PMID_17056636_Patient_No_10 biolink:Case Patient No 10 MALE phenopacket.store:KRAS.PMID_17056636_Patient_No_4 biolink:Case Patient No 4 FEMALE phenopacket.store:KRAS.PMID_17056636_Patient_No_6 biolink:Case Patient No 6 MALE phenopacket.store:KRAS.PMID_17056636_nan biolink:Case nan MALE phenopacket.store:KRAS.PMID_17056636_Patient_No_7 biolink:Case Patient No 7 FEMALE phenopacket.store:KRAS.PMID_17056636_Patient_No_2 biolink:Case Patient No 2 MALE phenopacket.store:KRAS.PMID_17056636_Patient_No_9 biolink:Case Patient No 9 MALE phenopacket.store:KRAS.PMID_17056636_Patient_No_5 biolink:Case Patient No 5 MALE phenopacket.store:KRT10.PMID_16505000_III_2_affected_boy biolink:Case III-2 affected boy FEMALE phenopacket.store:KRT10.PMID_16505000_III_1_affected_girl biolink:Case III-1 affected girl MALE phenopacket.store:KRT10.PMID_19474805_affected_girl biolink:Case affected girl FEMALE phenopacket.store:KRT10.PMID_18219278_proband biolink:Case proband FEMALE phenopacket.store:KRT9.PMID_18477167_III_4 biolink:Case III:4 MALE phenopacket.store:LAMB2.PMID_21236492_Individual_P3 biolink:Case Individual P3 FEMALE phenopacket.store:LAMB2.PMID_21236492_Individual_P10 biolink:Case Individual P10 MALE phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-2) biolink:Case Individual F1012 (II-2) MALE phenopacket.store:LAMB2.PMID_21236492_Individual_P2 biolink:Case Individual P2 MALE phenopacket.store:LAMB2.PMID_21236492_Individual_P1 biolink:Case Individual P1 FEMALE phenopacket.store:LAMB2.PMID_21236492_Individual_P5 biolink:Case Individual P5 MALE phenopacket.store:LAMB2.PMID_21236492_Individual_P7 biolink:Case Individual P7 MALE phenopacket.store:LAMB2.PMID_16912710_Individual_F1012_(II-1) biolink:Case Individual F1012 (II-1) FEMALE phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-2) biolink:Case Individual F1234 (II-2) MALE phenopacket.store:LAMB2.PMID_16912710_Individual_F1234_(II-1) biolink:Case Individual F1234 (II-1) FEMALE phenopacket.store:LAMB2.PMID_21236492_Individual_P4 biolink:Case Individual P4 FEMALE phenopacket.store:LAMB2.PMID_21236492_Individual_P8 biolink:Case Individual P8 FEMALE phenopacket.store:LAMB2.PMID_21236492_Individual_P6 biolink:Case Individual P6 FEMALE phenopacket.store:LAMB3.PMID_27220909_proband biolink:Case proband MALE phenopacket.store:LIPT2.PMID_28757203_Individual_1_P1 biolink:Case Individual 1 (P1) MALE phenopacket.store:LIPT2.PMID_28757203_Individual_2_P2 biolink:Case Individual 2 (P2) MALE phenopacket.store:LIPT2.PMID_28757203_Individual_3_P3 biolink:Case Individual 3 (P3) FEMALE phenopacket.store:LITAF.PMID_19541485_patient biolink:Case patient FEMALE phenopacket.store:LMNA.PMID_37843397_TR37 biolink:Case TR37 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_II_2 biolink:Case Patient EMD4 II-2 MALE phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_8 biolink:Case Family E individual III-8 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM50 biolink:Case Patient UM50 MALE phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_5 biolink:Case Family D individual II-5 MALE phenopacket.store:LMNA.PMID_18256394_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_8 biolink:Case Family B individual IV-8 MALE phenopacket.store:LMNA.PMID_37843397_TR21 biolink:Case TR21 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM27 biolink:Case Patient UM27 FEMALE phenopacket.store:LMNA.PMID_37303127_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo104 biolink:Case Patient Spo104 phenopacket.store:LMNA.PMID_37843397_TR20 biolink:Case TR20 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_2 biolink:Case Family B individual V-2 MALE phenopacket.store:LMNA.PMID_10662742_Individual_III_1 biolink:Case Individual III-1 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM18 biolink:Case Patient UM18 FEMALE phenopacket.store:LMNA.PMID_37843397_TR3 biolink:Case TR3 FEMALE phenopacket.store:LMNA.PMID_18551513_10 biolink:Case 10 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM26 biolink:Case Patient UM26 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM36 biolink:Case Patient UM36 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_3_3 biolink:Case Patient 3.3 FEMALE phenopacket.store:LMNA.PMID_37843397_TR23 biolink:Case TR23 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM45 biolink:Case Patient UM45 MALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_II_2 biolink:Case Family C individual II.2 FEMALE phenopacket.store:LMNA.PMID_37843397_TR14 biolink:Case TR14 MALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_8 biolink:Case Patient EMD4 III-8 FEMALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_12 biolink:Case Family C individual III.12 MALE phenopacket.store:LMNA.PMID_37843397_TR26 biolink:Case TR26 MALE phenopacket.store:LMNA.PMID_37843397_TR9 biolink:Case TR9 MALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_1 biolink:Case Family B individual IV-1 MALE phenopacket.store:LMNA.PMID_37843397_Patient_3_6 biolink:Case Patient 3.6 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM37 biolink:Case Patient UM37 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_16 biolink:Case Family B individual IV-16 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM34 biolink:Case Patient UM34 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_4 biolink:Case Family C individual III-4 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM40 biolink:Case Patient UM40 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_15 biolink:Case Family A individual III-15 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM31 biolink:Case Patient UM31 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM32 biolink:Case Patient UM32 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM14 biolink:Case Patient UM14 MALE phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_20 biolink:Case Family A individual III.20 FEMALE phenopacket.store:LMNA.PMID_37303127_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo21 biolink:Case Patient Spo21 phenopacket.store:LMNA.PMID_18256394_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_III_5 biolink:Case Patient EMD6 III-5 FEMALE phenopacket.store:LMNA.PMID_37843397_TR11 biolink:Case TR11 MALE phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_4 biolink:Case Family E individual III-4 MALE phenopacket.store:LMNA.PMID_37843397_TR15 biolink:Case TR15 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM10 biolink:Case Patient UM10 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_V_1 biolink:Case Family B individual V-1 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM15 biolink:Case Patient UM15 FEMALE phenopacket.store:LMNA.PMID_37843397_TR27 biolink:Case TR27 FEMALE phenopacket.store:LMNA.PMID_18551513_11 biolink:Case 11 FEMALE phenopacket.store:LMNA.PMID_37843397_TR30 biolink:Case TR30 FEMALE phenopacket.store:LMNA.PMID_10662742_Individual_III_4 biolink:Case Individual III-4 FEMALE phenopacket.store:LMNA.PMID_10662742_Individual_III_3 biolink:Case Individual III-3 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM46 biolink:Case Patient UM46 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_3_5 biolink:Case Patient 3.5 FEMALE phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_3 biolink:Case Family B individual IV.3 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM35 biolink:Case Patient UM35 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_8 biolink:Case Family A individual III-8 FEMALE phenopacket.store:LMNA.PMID_37303127_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_9 biolink:Case Family C individual IV.9 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_5 biolink:Case Patient EMD5 III-5 MALE phenopacket.store:LMNA.PMID_11344241_Individual_III_2 biolink:Case Individual III-2 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM42 biolink:Case Patient UM42 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_7 biolink:Case Family D individual III-7 MALE phenopacket.store:LMNA.PMID_17250669_Patient_C biolink:Case Patient C MALE phenopacket.store:LMNA.PMID_12920062_Family_B_individual_IV_2 biolink:Case Family B individual IV.2 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_II_1 biolink:Case Patient EMD5 II-1 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM9 biolink:Case Patient UM9 MALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_21 biolink:Case Family C individual III.21 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_5_2 biolink:Case Patient 5.2 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM5 biolink:Case Patient UM5 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM38 biolink:Case Patient UM38 MALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_10 biolink:Case Family C individual III.10 MALE phenopacket.store:LMNA.PMID_37303127_Individual_3 biolink:Case Individual 3 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM8 biolink:Case Patient UM8 MALE phenopacket.store:LMNA.PMID_37843397_Patient_2_2 biolink:Case Patient 2.2 FEMALE phenopacket.store:LMNA.PMID_37303127_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_8 biolink:Case Family C individual IV.8 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM47 biolink:Case Patient UM47 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo28 biolink:Case Patient Spo28 phenopacket.store:LMNA.PMID_10939567_Patient_Spo2 biolink:Case Patient Spo2 phenopacket.store:LMNA.PMID_18256394_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:LMNA.PMID_18256394_Patient_10 biolink:Case Patient 10 MALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_13 biolink:Case Family B individual III-13 FEMALE phenopacket.store:LMNA.PMID_18256394_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:LMNA.PMID_18551513_9 biolink:Case 9 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM4 biolink:Case Patient UM4 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM1 biolink:Case Patient UM1 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM29 biolink:Case Patient UM29 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_4 biolink:Case Family C individual II-4 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM12 biolink:Case Patient UM12 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo20 biolink:Case Patient Spo20 phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_7 biolink:Case Family B individual III.7 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_1_1 biolink:Case Patient 1.1 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo27 biolink:Case Patient Spo27 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_13 biolink:Case Patient EMD1 IV-13 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM19 biolink:Case Patient UM19 MALE phenopacket.store:LMNA.PMID_37843397_TR36 biolink:Case TR36 FEMALE phenopacket.store:LMNA.PMID_18551513_13 biolink:Case 13 FEMALE phenopacket.store:LMNA.PMID_37843397_TR35 biolink:Case TR35 MALE phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_2 biolink:Case Family C individual II-2 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo78 biolink:Case Patient Spo78 phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_14 biolink:Case Family A individual III-14 FEMALE phenopacket.store:LMNA.PMID_11344241_Individual_III_3 biolink:Case Individual III-3 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM6 biolink:Case Patient UM6 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_6 biolink:Case Patient EMD4 III-6 MALE phenopacket.store:LMNA.PMID_10580070_Family_C_individual_II_1 biolink:Case Family C individual II-1 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo29 biolink:Case Patient Spo29 phenopacket.store:LMNA.PMID_37843397_Patient_UM44 biolink:Case Patient UM44 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_4 biolink:Case Family B individual IV-4 MALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo3 biolink:Case Patient Spo3 phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_4 biolink:Case Patient EMD5 III-4 MALE phenopacket.store:LMNA.PMID_37843397_TR12 biolink:Case TR12 FEMALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_10 biolink:Case Family C individual IV.10 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_E_individual_III_1 biolink:Case Family E individual III-1 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_1 biolink:Case Family A individual III-1 MALE phenopacket.store:LMNA.PMID_37843397_Patient_3_2 biolink:Case Patient 3.2 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM2 biolink:Case Patient UM2 FEMALE phenopacket.store:LMNA.PMID_17250669_Patient_A biolink:Case Patient A FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM7 biolink:Case Patient UM7 FEMALE phenopacket.store:LMNA.PMID_18256394_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:LMNA.PMID_37843397_TR34 biolink:Case TR34 MALE phenopacket.store:LMNA.PMID_37843397_Patient_5_1 biolink:Case Patient 5.1 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_11 biolink:Case Family B individual III-11 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_4 biolink:Case Family E individual II-4 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_C_individual_III_2 biolink:Case Family C individual III-2 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM51 biolink:Case Patient UM51 MALE phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_11 biolink:Case Family A individual III-11 FEMALE phenopacket.store:LMNA.PMID_37843397_TR32 biolink:Case TR32 FEMALE phenopacket.store:LMNA.PMID_37843397_TR2 biolink:Case TR2 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_4_1 biolink:Case Patient 4.1 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_5_3 biolink:Case Patient 5.3 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_7 biolink:Case Patient EMD3 IV-7 MALE phenopacket.store:LMNA.PMID_37843397_Patient_1_7 biolink:Case Patient 1.7 MALE phenopacket.store:LMNA.PMID_37843397_Patient_3_1 biolink:Case Patient 3.1 MALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo37 biolink:Case Patient Spo37 phenopacket.store:LMNA.PMID_37843397_Patient_1_2 biolink:Case Patient 1.2 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_III_3 biolink:Case Patient EMD3 III-3 MALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_21 biolink:Case Family C individual IV.21 MALE phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_12 biolink:Case Family B individual III.12 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_4_3 biolink:Case Patient 4.3 FEMALE phenopacket.store:LMNA.PMID_18551513_4 biolink:Case 4 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_4 biolink:Case Patient EMD2 II-4 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM53 biolink:Case Patient UM53 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_II_3 biolink:Case Patient EMD2 II-3 MALE phenopacket.store:LMNA.PMID_18256394_Patient_11 biolink:Case Patient 11 MALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_8 biolink:Case Family C individual III.8 MALE phenopacket.store:LMNA.PMID_37843397_TR4 biolink:Case TR4 FEMALE phenopacket.store:LMNA.PMID_37843397_TR6 biolink:Case TR6 FEMALE phenopacket.store:LMNA.PMID_37303127_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo89 biolink:Case Patient Spo89 phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_6 biolink:Case Family E individual II-6 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM25 biolink:Case Patient UM25 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM11 biolink:Case Patient UM11 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD5_III_3 biolink:Case Patient EMD5 III-3 MALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_6 biolink:Case Family C individual III.6 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_9 biolink:Case Family E individual II-9 MALE phenopacket.store:LMNA.PMID_37843397_TR31 biolink:Case TR31 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM23 biolink:Case Patient UM23 MALE phenopacket.store:LMNA.PMID_37843397_Patient_4_4 biolink:Case Patient 4.4 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo69 biolink:Case Patient Spo69 phenopacket.store:LMNA.PMID_37843397_Patient_UM30 biolink:Case Patient UM30 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM49 biolink:Case Patient UM49 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_2 biolink:Case Patient EMD1 III-2 MALE phenopacket.store:LMNA.PMID_37843397_TR22 biolink:Case TR22 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo10 biolink:Case Patient Spo10 phenopacket.store:LMNA.PMID_37843397_TR24 biolink:Case TR24 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_6 biolink:Case Patient EMD2 III-6 MALE phenopacket.store:LMNA.PMID_37843397_Patient_1_4 biolink:Case Patient 1.4 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM17 biolink:Case Patient UM17 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM41 biolink:Case Patient UM41 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM13 biolink:Case Patient UM13 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo1 biolink:Case Patient Spo1 phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_24 biolink:Case Patient EMD1 IV-24 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM43 biolink:Case Patient UM43 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_2_1 biolink:Case Patient 2.1 FEMALE phenopacket.store:LMNA.PMID_10662742_Individual_II_1 biolink:Case Individual II-1 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM28 biolink:Case Patient UM28 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_6 biolink:Case Family D individual III-6 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM3 biolink:Case Patient UM3 FEMALE phenopacket.store:LMNA.PMID_37843397_TR8 biolink:Case TR8 FEMALE phenopacket.store:LMNA.PMID_37843397_TR17 biolink:Case TR17 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM52 biolink:Case Patient UM52 MALE phenopacket.store:LMNA.PMID_37843397_Patient_4_2 biolink:Case Patient 4.2 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_1 biolink:Case Family B individual III-1 MALE phenopacket.store:LMNA.PMID_37843397_TR19 biolink:Case TR19 FEMALE phenopacket.store:LMNA.PMID_18256394_Patient_13 biolink:Case Patient 13 MALE phenopacket.store:LMNA.PMID_18551513_2 biolink:Case 2 MALE phenopacket.store:LMNA.PMID_18551513_3 biolink:Case 3 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_IV_7 biolink:Case Patient EMD6 IV-7 MALE phenopacket.store:LMNA.PMID_37843397_Patient_1_6 biolink:Case Patient 1.6 MALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_IV_10 biolink:Case Family B individual IV-10 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_6_1 biolink:Case Patient 6.1 FEMALE phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_16 biolink:Case Family A individual III.16 FEMALE phenopacket.store:LMNA.PMID_37843397_TR28 biolink:Case TR28 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_B_individual_III_3 biolink:Case Family B individual III-3 MALE phenopacket.store:LMNA.PMID_11344241_Individual_II_2 biolink:Case Individual II-2 FEMALE phenopacket.store:LMNA.PMID_37843397_TR10 biolink:Case TR10 FEMALE phenopacket.store:LMNA.PMID_18551513_14 biolink:Case 14 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM21 biolink:Case Patient UM21 MALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_III_18 biolink:Case Family C individual III.18 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM16 biolink:Case Patient UM16 FEMALE phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_22 biolink:Case Family A individual IV.22 MALE phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_3 biolink:Case Family D individual III-3 MALE phenopacket.store:LMNA.PMID_12920062_Family_B_individual_III_5 biolink:Case Family B individual III.5 MALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD6_II_3 biolink:Case Patient EMD6 II-3 MALE phenopacket.store:LMNA.PMID_18551513_7 biolink:Case 7 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM33 biolink:Case Patient UM33 FEMALE phenopacket.store:LMNA.PMID_18256394_Patient_12 biolink:Case Patient 12 MALE phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_9 biolink:Case Family A individual III-9 MALE phenopacket.store:LMNA.PMID_37843397_Patient_UM22 biolink:Case Patient UM22 FEMALE phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_31 biolink:Case Family A individual V.31 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM24 biolink:Case Patient UM24 MALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD3_IV_5 biolink:Case Patient EMD3 IV-5 FEMALE phenopacket.store:LMNA.PMID_18256394_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:LMNA.PMID_12920062_Family_A_individual_IV_28 biolink:Case Family A individual IV.28 MALE phenopacket.store:LMNA.PMID_18256394_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:LMNA.PMID_12920062_Family_A_individual_III_15 biolink:Case Family A individual III.15 FEMALE phenopacket.store:LMNA.PMID_37843397_TR13 biolink:Case TR13 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_13 biolink:Case Family A individual III-13 MALE phenopacket.store:LMNA.PMID_18256394_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:LMNA.PMID_18551513_1 biolink:Case 1 MALE phenopacket.store:LMNA.PMID_37843397_TR18 biolink:Case TR18 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_4 biolink:Case Family D individual II-4 FEMALE phenopacket.store:LMNA.PMID_18256394_Patient_8 biolink:Case Patient 8 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM48 biolink:Case Patient UM48 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_3_8 biolink:Case Patient 3.8 FEMALE phenopacket.store:LMNA.PMID_18551513_5 biolink:Case 5 FEMALE phenopacket.store:LMNA.PMID_12920062_Family_A_individual_V_32 biolink:Case Family A individual V.32 MALE phenopacket.store:LMNA.PMID_10662742_Individual_II_5 biolink:Case Individual II-5 MALE phenopacket.store:LMNA.PMID_37843397_Patient_3_4 biolink:Case Patient 3.4 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_D_individual_III_2 biolink:Case Family D individual III-2 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_III_20 biolink:Case Patient EMD1 III-20 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_1_3 biolink:Case Patient 1.3 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD1_IV_14 biolink:Case Patient EMD1 IV-14 MALE phenopacket.store:LMNA.PMID_37843397_TR7 biolink:Case TR7 MALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD2_III_7 biolink:Case Patient EMD2 III-7 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_2 biolink:Case Family E individual II-2 FEMALE phenopacket.store:LMNA.PMID_18256394_Patient_15 biolink:Case Patient 15 MALE phenopacket.store:LMNA.PMID_17250669_Patient_B biolink:Case Patient B FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM20 biolink:Case Patient UM20 FEMALE phenopacket.store:LMNA.PMID_18256394_Patient_14 biolink:Case Patient 14 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_UM39 biolink:Case Patient UM39 MALE phenopacket.store:LMNA.PMID_37843397_TR5 biolink:Case TR5 FEMALE phenopacket.store:LMNA.PMID_10580070_Family_E_individual_II_8 biolink:Case Family E individual II-8 MALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo70 biolink:Case Patient Spo70 phenopacket.store:LMNA.PMID_10939567_Patient_Spo11 biolink:Case Patient Spo11 phenopacket.store:LMNA.PMID_37843397_TR1 biolink:Case TR1 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_3_7 biolink:Case Patient 3.7 MALE phenopacket.store:LMNA.PMID_10580070_Family_A_individual_III_5 biolink:Case Family A individual III-5 FEMALE phenopacket.store:LMNA.PMID_18551513_6 biolink:Case 6 FEMALE phenopacket.store:LMNA.PMID_18551513_8 biolink:Case 8 MALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_4 biolink:Case Patient EMD4 III-4 FEMALE phenopacket.store:LMNA.PMID_37843397_Patient_1_5 biolink:Case Patient 1.5 MALE phenopacket.store:LMNA.PMID_10939567_Patient_Spo4 biolink:Case Patient Spo4 phenopacket.store:LMNA.PMID_37843397_TR29 biolink:Case TR29 FEMALE phenopacket.store:LMNA.PMID_37843397_TR33 biolink:Case TR33 FEMALE phenopacket.store:LMNA.PMID_10939567_Patient_EMD4_III_7 biolink:Case Patient EMD4 III-7 MALE phenopacket.store:LMNA.PMID_10580070_Family_D_individual_II_1 biolink:Case Family D individual II-1 MALE phenopacket.store:LMNA.PMID_18551513_12 biolink:Case 12 FEMALE phenopacket.store:LMNA.PMID_37843397_TR16 biolink:Case TR16 MALE phenopacket.store:LMNA.PMID_12920062_Family_C_individual_IV_14 biolink:Case Family C individual IV.14 FEMALE phenopacket.store:LMNA.PMID_18551513_15 biolink:Case 15 MALE phenopacket.store:LMNA.PMID_37843397_TR25 biolink:Case TR25 FEMALE phenopacket.store:LMX1B.PMID_30881852_index_case biolink:Case index case MALE phenopacket.store:LONP1.PMID_25808063_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:LONP1.PMID_25808063_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:LONP1.PMID_28148925_proband biolink:Case proband MALE phenopacket.store:LONP1.PMID_25808063_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:LONP1.PMID_25808063_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:LONP1.PMID_25808063_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:LONP1.PMID_25808063_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:LONP1.PMID_25808063_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:LRRC23.PMID_38091523_IV_2 biolink:Case IV-2 MALE phenopacket.store:LRRC23.PMID_38091523_IV_1 biolink:Case IV-1 MALE phenopacket.store:LRRC23.PMID_37804054_proband_AC027 biolink:Case proband AC027 MALE phenopacket.store:LYN.PMID_36122175_Patient_in_the_present_study biolink:Case Patient in the present study FEMALE phenopacket.store:LYN.PMID_36932076_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:LYN.PMID_36932076_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:LYN.PMID_36932076_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:LYST.PMID_28183707_nan biolink:Case nan MALE phenopacket.store:LYZ.PMID_12675840_proband_II_2 biolink:Case proband II-2 FEMALE phenopacket.store:LYZ.PMID_10534505_III4 biolink:Case III4 FEMALE phenopacket.store:LYZ.PMID_10534505_III9 biolink:Case III9 MALE phenopacket.store:LYZ.PMID_11849445_Proband biolink:Case Proband MALE phenopacket.store:LYZ.PMID_12360495_Case_report biolink:Case Case report FEMALE phenopacket.store:LYZ.PMID_10534505_III7 biolink:Case III7 MALE phenopacket.store:LYZ.PMID_12675840_daughter_III_2 biolink:Case daughter III-2 FEMALE phenopacket.store:LYZ.PMID_12675840_daughter_II_2 biolink:Case daughter II-2 FEMALE phenopacket.store:LYZ.PMID_10534505_proband biolink:Case proband FEMALE phenopacket.store:LZTR1.PMID_29469822_Family_12_V_4 biolink:Case Family 12 V-4 FEMALE phenopacket.store:LZTR1.PMID_30368668_Individual_NS876 biolink:Case Individual NS876 MALE phenopacket.store:LZTR1.PMID_38982897_Case_report biolink:Case Case report MALE phenopacket.store:LZTR1.PMID_29469822_Family_4_II_1 biolink:Case Family 4 II-1 MALE phenopacket.store:LZTR1.PMID_29469822_Family_7_II_1 biolink:Case Family 7 II-1 MALE phenopacket.store:LZTR1.PMID_29469822_Family_8_II_11 biolink:Case Family 8 II-11 MALE phenopacket.store:LZTR1.PMID_29469822_Family_1_II_2 biolink:Case Family 1 II-2 FEMALE phenopacket.store:LZTR1.PMID_30859559_Patient_279914 biolink:Case Patient 279914 MALE phenopacket.store:LZTR1.PMID_29469822_Family_3_II_1 biolink:Case Family 3 II-1 FEMALE phenopacket.store:LZTR1.PMID_30859559_Patient_272332 biolink:Case Patient 272332 MALE phenopacket.store:LZTR1.PMID_30368668_NS659 biolink:Case NS659 FEMALE phenopacket.store:LZTR1.PMID_30368668_Individual_NS562 biolink:Case Individual NS562 FEMALE phenopacket.store:LZTR1.PMID_30368668_Individual_NS808 biolink:Case Individual NS808 MALE phenopacket.store:LZTR1.PMID_29469822_Family_11_II_6 biolink:Case Family 11 II-6 MALE phenopacket.store:LZTR1.PMID_29469822_Family_1_II_1 biolink:Case Family 1 II-1 FEMALE phenopacket.store:LZTR1.PMID_30368668_Individual_NS269 biolink:Case Individual NS269 MALE phenopacket.store:LZTR1.PMID_31182298_Case_2 biolink:Case Case 2 MALE phenopacket.store:LZTR1.PMID_29469822_Family_10_II_3 biolink:Case Family 10 II-3 FEMALE phenopacket.store:LZTR1.PMID_30859559_Patient_O1504902 biolink:Case Patient O1504902 FEMALE phenopacket.store:LZTR1.PMID_29469822_Family_2_II_5 biolink:Case Family 2 II-5 MALE phenopacket.store:LZTR1.PMID_29469822_Family_9_II_2 biolink:Case Family 9 II-2 FEMALE phenopacket.store:LZTR1.PMID_29469822_Family_1_II_3 biolink:Case Family 1 II-3 FEMALE phenopacket.store:LZTR1.PMID_29469822_Family_12_V_1 biolink:Case Family 12 V-1 FEMALE phenopacket.store:LZTR1.PMID_30859559_Patient_284672 biolink:Case Patient 284672 FEMALE phenopacket.store:LZTR1.PMID_31182298_Case_1 biolink:Case Case 1 MALE phenopacket.store:LZTR1.PMID_29469822_Family_3_II_4 biolink:Case Family 3 II-4 MALE phenopacket.store:LZTR1.PMID_29469822_Family_2_II_4 biolink:Case Family 2 II-4 MALE phenopacket.store:LZTR1.PMID_29469822_Family_4_II_2 biolink:Case Family 4 II-2 MALE phenopacket.store:LZTR1.PMID_30368668_Individual_NS659 biolink:Case Individual NS659 FEMALE phenopacket.store:LZTR1.PMID_29469822_Family_5_II_4 biolink:Case Family 5 II-4 FEMALE phenopacket.store:LZTR1.PMID_30859559_Patient_O1409412 biolink:Case Patient O1409412 FEMALE phenopacket.store:LZTR1.PMID_29469822_Family_5_II_1_2 biolink:Case Family 5 II-1/2 FEMALE phenopacket.store:LZTR1.PMID_30368668_Individual_NS535 biolink:Case Individual NS535 MALE phenopacket.store:LZTR1.PMID_30859559_Patient_O1409410 biolink:Case Patient O1409410 MALE phenopacket.store:LZTR1.PMID_30368668_Individual_NS130 biolink:Case Individual NS130 FEMALE phenopacket.store:LZTR1.PMID_39003740_patient biolink:Case patient MALE phenopacket.store:LZTR1.PMID_29469822_Family_6_II_6 biolink:Case Family 6 II-6 FEMALE phenopacket.store:LZTR1.PMID_29469822_Family_1_II_4 biolink:Case Family 1 II-4 MALE phenopacket.store:MAF.PMID_28482824_proband biolink:Case proband MALE phenopacket.store:MANF.PMID_33500254_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:MANF.PMID_33500254_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:MAP3K14.PMID_25406581_P1 biolink:Case P1 FEMALE phenopacket.store:MAP3K14.PMID_29230214_proband biolink:Case proband FEMALE phenopacket.store:MAP3K14.PMID_25406581_P2 biolink:Case P2 FEMALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_8 biolink:Case Individual 8 FEMALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:MAPK8IP3.PMID_34321325_Patient_S12 biolink:Case Patient S12 MALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_12 biolink:Case Individual 12 FEMALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_13 biolink:Case Individual 13 FEMALE phenopacket.store:MAPK8IP3.PMID_30945334_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_11 biolink:Case Individual 11 FEMALE phenopacket.store:MAPK8IP3.PMID_30945334_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:MAPK8IP3.PMID_30945334_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:MAPK8IP3.PMID_37684057_10_yr_old_boy biolink:Case 10-yr-old boy MALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_9 biolink:Case Individual 9 FEMALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:MAPK8IP3.PMID_30945334_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:MAPK8IP3.PMID_30612693_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:MAPK8IP3.PMID_30945334_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:MAX.PMID_38141607_Individuals_2_P2_DDD_303133 biolink:Case Individuals 2 (P2-DDD:303133) MALE phenopacket.store:MAX.PMID_38141607_Individuals_3_P3 biolink:Case Individuals 3 (P3) MALE phenopacket.store:MAX.PMID_38141607_Individuals_1_P1_DDD_304967 biolink:Case Individuals 1 (P1-DDD:304967) MALE phenopacket.store:MCOLN1.PMID_15523648_A_four-year-old_female biolink:Case A four-year-old female FEMALE phenopacket.store:MCOLN1.PMID_28620732__6-y-old_boy biolink:Case 6-y-old boy MALE phenopacket.store:MCTS1.PMID_37875108_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:MCTS1.PMID_37875108_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:MCTS1.PMID_37875108_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:MCTS1.PMID_37875108_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:MCTS1.PMID_37875108_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:MCTS1.PMID_37875108_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:MCTS1.PMID_37875108_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:MECR.PMID_37734847_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:MECR.PMID_37734847_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:MED23.PMID_25845469_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:MED23.PMID_25845469_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:MED23.PMID_30847200_patient_IV_8 biolink:Case patient IV.8 MALE phenopacket.store:MEIOB.PMID_35991565_Family_I_Ⅴ3 biolink:Case Family I Ⅴ3 FEMALE phenopacket.store:MEIOB.PMID_31000419_III_11 biolink:Case III-11 FEMALE phenopacket.store:MEIOB.PMID_31000419_III_10 biolink:Case III-10 FEMALE phenopacket.store:MEIOB.PMID_34392356_PK_INF_602 biolink:Case PK-INF-602 FEMALE phenopacket.store:MEIOB.PMID_35991565_Family_II_IV3 biolink:Case Family II IV3 FEMALE phenopacket.store:MEN1.PMID_26239674_proband_III_3 biolink:Case proband (III-3) FEMALE phenopacket.store:MFN2.PMID_26956144_patient biolink:Case patient MALE phenopacket.store:MITF.PMID_10851256_family_815 biolink:Case family 815 phenopacket.store:MPL.PMID_14764528_Pedigree_of_FET biolink:Case Pedigree of FET phenopacket.store:MPV17.PMID_23714749_Family_5_patient_7 biolink:Case Family 5 patient 7 MALE phenopacket.store:MPV17.PMID_23714749_Family_9_patient_13 biolink:Case Family 9 patient 13 FEMALE phenopacket.store:MPV17.PMID_20074988_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:MPV17.PMID_16909392_Patient_6_II_1_in_family_5 biolink:Case Patient 6 II-1 in family 5 FEMALE phenopacket.store:MPV17.PMID_16909392_Patient_5_II_1_in_family_4 biolink:Case Patient 5 II-1 in family 4 FEMALE phenopacket.store:MPV17.PMID_29318572_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:MPV17.PMID_23714749_Family_7_patient_10 biolink:Case Family 7 patient 10 MALE phenopacket.store:MPV17.PMID_20074988_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:MPV17.PMID_20074988_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:MPV17.PMID_18695062_Case_3 biolink:Case Case 3 FEMALE phenopacket.store:MPV17.PMID_23714749_Family_5_patient_8 biolink:Case Family 5 patient 8 FEMALE phenopacket.store:MPV17.PMID_31664948_Family_ΙΙΙ_patient_ΙII biolink:Case Family ΙΙΙ patient ΙII MALE phenopacket.store:MPV17.PMID_23714749_Family_11_patient_15 biolink:Case Family 11 patient 15 FEMALE phenopacket.store:MPV17.PMID_16909392_Patient_3_III_6_in_family_2 biolink:Case Patient 3 III-6 in family 2 MALE phenopacket.store:MPV17.PMID_23829229_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:MPV17.PMID_34979697_case biolink:Case case FEMALE phenopacket.store:MPV17.PMID_27536553_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:MPV17.PMID_28209105_Case_history biolink:Case Case history MALE phenopacket.store:MPV17.PMID_20074988_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:MPV17.PMID_20074988_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:MPV17.PMID_27536553_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:MPV17.PMID_23714749_Family_9_patient_12 biolink:Case Family 9 patient 12 FEMALE phenopacket.store:MPV17.PMID_23829229_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:MPV17.PMID_18695062_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:MPV17.PMID_18329934_patient biolink:Case patient MALE phenopacket.store:MPV17.PMID_23714749_Family_4_patient_6 biolink:Case Family 4 patient 6 MALE phenopacket.store:MPV17.PMID_16909392_patient_2_V3_in_family_1 biolink:Case patient 2 V3 in family 1 FEMALE phenopacket.store:MPV17.PMID_26437932_nan biolink:Case nan MALE phenopacket.store:MPV17.PMID_23714749_Family_10_patient_14 biolink:Case Family 10 patient 14 MALE phenopacket.store:MPV17.PMID_23714749_Family_1_patient_1 biolink:Case Family 1 patient 1 FEMALE phenopacket.store:MPV17.PMID_20074988_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:MPV17.PMID_34023347_Patient_17 biolink:Case Patient 17 MALE phenopacket.store:MPV17.PMID_29318572_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:MPV17.PMID_34035203_case_report biolink:Case case report FEMALE phenopacket.store:MPV17.PMID_28673863_Case_report biolink:Case Case report FEMALE phenopacket.store:MPV17.PMID_23714749_Family_2_patient_2 biolink:Case Family 2 patient 2 FEMALE phenopacket.store:MPV17.PMID_23714749_Family_4_patient_4 biolink:Case Family 4 patient 4 FEMALE phenopacket.store:MPV17.PMID_16909392_patient_1_V11_in_family_1 biolink:Case patient 1 V11 in family 1 MALE phenopacket.store:MPV17.PMID_26437932_Patient_1_FC26 biolink:Case Patient 1 FC26 FEMALE phenopacket.store:MPV17.PMID_27536553_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:MPV17.PMID_31664948_Family_ΙΙ_patient_ΙΙ biolink:Case Family ΙΙ patient ΙΙ FEMALE phenopacket.store:MPV17.PMID_23714749_Family_8_patient_11 biolink:Case Family 8 patient 11 FEMALE phenopacket.store:MPV17.PMID_23714749_Family_12_patient_16 biolink:Case Family 12 patient 16 MALE phenopacket.store:MPV17.PMID_24894789_proband biolink:Case proband MALE phenopacket.store:MPV17.PMID_25129007_Case_2 biolink:Case Case 2 MALE phenopacket.store:MPV17.PMID_22964873_report_of_a_case biolink:Case report of a case MALE phenopacket.store:MPV17.PMID_23829229_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:MPV17.PMID_23714749_Family_4_patient_5 biolink:Case Family 4 patient 5 FEMALE phenopacket.store:MPV17.PMID_23829229_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:MPV17.PMID_16909392_Patient_4_II_1_in_family_3 biolink:Case Patient 4 II-1 in family 3 FEMALE phenopacket.store:MPV17.PMID_22824774_case_report biolink:Case case report MALE phenopacket.store:MPV17.PMID_22508010_Case_report biolink:Case Case report MALE phenopacket.store:MPV17.PMID_23714749_Family_6_patient_9 biolink:Case Family 6 patient 9 MALE phenopacket.store:MPV17.PMID_24190800_Case_Report biolink:Case Case Report FEMALE phenopacket.store:MPV17.PMID_20074988_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:MPV17.PMID_18695062_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:MPV17.PMID_23714749_Family_3_patient_3 biolink:Case Family 3 patient 3 FEMALE phenopacket.store:MPV17.PMID_33486010_P98 biolink:Case P98 MALE phenopacket.store:MPV17.PMID_27536553_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:MPV17.PMID_23714749_Family_12_patient_17 biolink:Case Family 12 patient 17 FEMALE phenopacket.store:MRAS.PMID_31173466_Suzuki-Patient-1 biolink:Case Suzuki-Patient-1 MALE phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-2 biolink:Case Higgins-Patient-2 FEMALE phenopacket.store:MRAS.PMID_28289718_Higgins-Patient-1 biolink:Case Higgins-Patient-1 FEMALE phenopacket.store:MRPL39.PMID_37133451_Individual_P3 biolink:Case Individual P3 MALE phenopacket.store:MRPL39.PMID_37133451_Individual_P2 biolink:Case Individual P2 FEMALE phenopacket.store:MRPL39.PMID_37133451_Individual_P1 biolink:Case Individual P1 FEMALE phenopacket.store:MTOR.PMID_27753196_index_patient biolink:Case index patient FEMALE phenopacket.store:MUSK.PMID_19949040_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:MUSK.PMID_19949040_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:MUSK.PMID_23326516_12_year_old_boy biolink:Case 12-year-old boy MALE phenopacket.store:MUSK.PMID_19949040_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:MUSK.PMID_20371544_patient biolink:Case patient FEMALE phenopacket.store:MUSK.PMID_19949040_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:MUSK.PMID_19949040_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:MUSK.PMID_15496425_patient biolink:Case patient FEMALE phenopacket.store:MYCN.PMID_37710961_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:MYCN.PMID_37710961_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:MYCN.PMID_30573562_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:MYH3.PMID_28584669_newborn_male biolink:Case newborn male MALE phenopacket.store:MYH3.PMID_20924721_Egyptian_infant biolink:Case Egyptian infant FEMALE phenopacket.store:MYOT.PMID_19458539_patient biolink:Case patient FEMALE phenopacket.store:MYT1L.PMID_30055078_index_patient biolink:Case index patient MALE phenopacket.store:MYZAP.PMID_35840178_brother_of_proband_II_2 biolink:Case brother of proband II-2 MALE phenopacket.store:MYZAP.PMID_38436102_proband biolink:Case proband FEMALE phenopacket.store:MYZAP.PMID_35840178_proband_II_1 biolink:Case proband II-1 MALE phenopacket.store:MYZAP.PMID_38436102_sister biolink:Case sister FEMALE phenopacket.store:NAA60.PMID_38480682_F4_II_1 biolink:Case F4-II-1 phenopacket.store:NAA60.PMID_38480682_F3_II_1 biolink:Case F3-II-1 phenopacket.store:NAA60.PMID_38480682_F6_II_6 biolink:Case F6-II-6 phenopacket.store:NAA60.PMID_38480682_F5_II_1 biolink:Case F5-II-1 phenopacket.store:NAA60.PMID_38480682_F3_II_2 biolink:Case F3-II-2 phenopacket.store:NAA60.PMID_38480682_F1_II_2 biolink:Case F1-II-2 phenopacket.store:NAA60.PMID_38480682_F7_II_6 biolink:Case F7-II-6 phenopacket.store:NAA60.PMID_38480682_F2_II_1 biolink:Case F2-II-1 phenopacket.store:NAA60.PMID_38480682_F1_II_1 biolink:Case F1-II-1 phenopacket.store:NAA60.PMID_38480682_F2_II_2 biolink:Case F2-II-2 phenopacket.store:NAA80.PMID_34805998_Proband_1_4 biolink:Case Proband 1.4 MALE phenopacket.store:NAA80.PMID_34805998_Proband_1_2 biolink:Case Proband 1.2 MALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_62 biolink:Case Individual NBAS 62 phenopacket.store:NBAS.PMID_26541327_Pat_12_FXI biolink:Case Pat 12 (FXI) MALE phenopacket.store:NBAS.PMID_28629372_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_11 biolink:Case Individual NBAS 11 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_83 biolink:Case Individual NBAS 83 phenopacket.store:NBAS.PMID_26578240_individual_II_3 biolink:Case individual II.3 MALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_51 biolink:Case Individual NBAS 51 phenopacket.store:NBAS.PMID_26286438_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:NBAS.PMID_28410752_nan biolink:Case nan MALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_13 biolink:Case Individual NBAS 13 phenopacket.store:NBAS.PMID_26541327_Pat_1_FI biolink:Case Pat 1 (FI) FEMALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_56 biolink:Case Individual NBAS 56 phenopacket.store:NBAS.PMID_26286438_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:NBAS.PMID_26541327_Pat_13_FXII biolink:Case Pat 13 (FXII) MALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_53 biolink:Case Individual NBAS 53 phenopacket.store:NBAS.PMID_28425089_subject_10A biolink:Case subject 10A MALE phenopacket.store:NBAS.PMID_26541327_Pat_4_FIV biolink:Case Pat 4 (FIV) FEMALE phenopacket.store:NBAS.PMID_31015584_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:NBAS.PMID_26578240_individual_II_1 biolink:Case individual II.1 MALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_50 biolink:Case Individual NBAS 50 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_68 biolink:Case Individual NBAS 68 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_57 biolink:Case Individual NBAS 57 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_58 biolink:Case Individual NBAS 58 phenopacket.store:NBAS.PMID_31015584_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_9 biolink:Case Individual NBAS 9 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_54 biolink:Case Individual NBAS 54 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_7 biolink:Case Individual NBAS 7 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_60 biolink:Case Individual NBAS 60 phenopacket.store:NBAS.PMID_28425089_subject_10B biolink:Case subject 10B FEMALE phenopacket.store:NBAS.PMID_26541327_Pat_15_FXIV_b biolink:Case Pat 15 (FXIV)b MALE phenopacket.store:NBAS.PMID_26541327_Pat_11_FX biolink:Case Pat 11 (FX) FEMALE phenopacket.store:NBAS.PMID_29207168_patient biolink:Case patient FEMALE phenopacket.store:NBAS.PMID_31761904_individual_NBAS_82 biolink:Case individual NBAS 82 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_55 biolink:Case Individual NBAS 55 phenopacket.store:NBAS.PMID_26541327_Pat_14_FXIII biolink:Case Pat 14 (FXIII) FEMALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_8 biolink:Case Individual NBAS 8 phenopacket.store:NBAS.PMID_28629372_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:NBAS.PMID_30558828_Patient biolink:Case Patient FEMALE phenopacket.store:NBAS.PMID_31889758_child biolink:Case child MALE phenopacket.store:NBAS.PMID_31761904_individual_NBAS_46 biolink:Case individual NBAS 46 phenopacket.store:NBAS.PMID_26541327_Pat_16_FXV_b biolink:Case Pat 16 (FXV)b FEMALE phenopacket.store:NBAS.PMID_26541327_Pat_7_FVII biolink:Case Pat 7 (FVII) FEMALE phenopacket.store:NBAS.PMID_26541327_Pat_2_FII biolink:Case Pat 2 (FII) FEMALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_61 biolink:Case Individual NBAS 61 phenopacket.store:NBAS.PMID_28576691_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_59 biolink:Case Individual NBAS 59 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_14 biolink:Case Individual NBAS 14 phenopacket.store:NBAS.PMID_29575310_patient biolink:Case patient phenopacket.store:NBAS.PMID_26578240_individual_II_2 biolink:Case individual II.2 FEMALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_69 biolink:Case Individual NBAS 69 phenopacket.store:NBAS.PMID_30825388_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:NBAS.PMID_28629372_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:NBAS.PMID_26541327_Pat_5_FV biolink:Case Pat 5 (FV) MALE phenopacket.store:NBAS.PMID_30825388_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:NBAS.PMID_28611345_case_report biolink:Case case report FEMALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_84 biolink:Case Individual NBAS 84 phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_12 biolink:Case Individual NBAS 12 phenopacket.store:NBAS.PMID_26541327_Pat_6_FVI biolink:Case Pat 6 (FVI) MALE phenopacket.store:NBAS.PMID_28576691_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:NBAS.PMID_30622725_patient biolink:Case patient MALE phenopacket.store:NBAS.PMID_31761904_Individual_NBAS_64 biolink:Case Individual NBAS 64 phenopacket.store:NBAS.PMID_26541327_Pat_9_FVIII biolink:Case Pat 9 (FVIII) MALE phenopacket.store:NBAS.PMID_26541327_Pat_10_FIX biolink:Case Pat 10 (FIX) FEMALE phenopacket.store:NBAS.PMID_31015584_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:NBAS.PMID_26541327_Pat_8_FVII biolink:Case Pat 8 (FVII) FEMALE phenopacket.store:NBAS.PMID_26541327_Pat_3_FIII biolink:Case Pat 3 (FIII) FEMALE phenopacket.store:NBAS.PMID_28946922_Case_presentation biolink:Case Case presentation MALE phenopacket.store:NCF2.PMID_10498624_Case_1_LC biolink:Case Case 1 LC FEMALE phenopacket.store:NCF2.PMID_10498624_Case_4_IP biolink:Case Case 4 IP FEMALE phenopacket.store:NCF2.PMID_10498624_Case_3_AA biolink:Case Case 3 AA MALE phenopacket.store:NCF2.PMID_7795241_patient_KA biolink:Case patient KA MALE phenopacket.store:NCF2.PMID_10498624_Case_6_NS biolink:Case Case 6 NS FEMALE phenopacket.store:NCF2.PMID_10498624_Case_5_SG biolink:Case Case 5 SG FEMALE phenopacket.store:NCF2.PMID_10498624_Case_2_MD biolink:Case Case 2 MD FEMALE phenopacket.store:NEK8.PMID_37598857_Family_1_individual biolink:Case Family 1 individual MALE phenopacket.store:NEK8.PMID_37598857_Family_12_individual biolink:Case Family 12 individual MALE phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_3 biolink:Case Family 7 individual III-3 MALE phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_1 biolink:Case Family 11 individual III-1 FEMALE phenopacket.store:NEK8.PMID_37598857_Family_9_individual_IV_1 biolink:Case Family 9 individual IV-1 FEMALE phenopacket.store:NEK8.PMID_37598857_Family_4_individual biolink:Case Family 4 individual MALE phenopacket.store:NEK8.PMID_37598857_Family_3_individual biolink:Case Family 3 individual MALE phenopacket.store:NEK8.PMID_37598857_Family_9_individual_III_1 biolink:Case Family 9 individual III-1 FEMALE phenopacket.store:NEK8.PMID_37598857_Family_11_11_individual_IV_3 biolink:Case Family 11 11 individual IV-3 MALE phenopacket.store:NEK8.PMID_37598857_Family_10_individual biolink:Case Family 10 individual FEMALE phenopacket.store:NEK8.PMID_37598857_Family_11_individual_IV_4 biolink:Case Family 11 individual IV-4 FEMALE phenopacket.store:NEK8.PMID_37598857_Family_11_individual_II_1 biolink:Case Family 11 individual II-1 FEMALE phenopacket.store:NEK8.PMID_36215968_patient biolink:Case patient MALE phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_2 biolink:Case Family 11 individual III-2 MALE phenopacket.store:NEK8.PMID_37598857_Family_6_individual biolink:Case Family 6 individual FEMALE phenopacket.store:NEK8.PMID_37598857_Family_7_individual_III_4 biolink:Case Family 7 individual III-4 MALE phenopacket.store:NEK8.PMID_37598857_Family_8_individual biolink:Case Family 8 individual MALE phenopacket.store:NEK8.PMID_37598857_Family_2_individual biolink:Case Family 2 individual FEMALE phenopacket.store:NEK8.PMID_37598857_Family_11_individual_III_3 biolink:Case Family 11 individual III-3 FEMALE phenopacket.store:NEK8.PMID_37598857_Family_5_individual biolink:Case Family 5 individual MALE phenopacket.store:NF1.PMID_17160901_family_C_individual_4 biolink:Case family C individual 4 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R8135_individual_RS biolink:Case Family UAB-R8135 individual RS FEMALE phenopacket.store:NF1.PMID_17160901_family_A_individual_6 biolink:Case family A individual 6 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_individual_F biolink:Case Family UAB-R3618 individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R6365_II1 biolink:Case UAB-R6365-II1 MALE phenopacket.store:NF1.PMID_29290338_Family_PAD_R400_individual_RS_mother_neg_father_not_available biolink:Case Family PAD-R400 individual RS/ mother-neg; father not available MALE phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_2 biolink:Case Patient 0544 twin 2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R126_individual_RS biolink:Case Family UG-R126 individual RS MALE phenopacket.store:NF1.PMID_20513137_individual_GUI_GSM_GSM492741 biolink:Case individual GUI_GSM_GSM492741 phenopacket.store:NF1.PMID_20513137_individual_COG_GSM_GSM492716 biolink:Case individual COG_GSM_GSM492716 phenopacket.store:NF1.PMID_26178382_BARC_123_II1 biolink:Case BARC-123-II1 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3112__individual_PrS biolink:Case Family UAB-R3112 ** individual PrS MALE phenopacket.store:NF1.PMID_26178382_UAB_R6673_II1 biolink:Case UAB-R6673-II1 FEMALE phenopacket.store:NF1.PMID_20513137_individual_N1666_GSM_GSM492729 biolink:Case individual N1666_GSM_GSM492729 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C1__individual_F biolink:Case Family UAB-R2837-C1 * individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_MAD_R9_232_individual_PrS biolink:Case Family MAD-R9.232 individual PrS MALE phenopacket.store:NF1.PMID_17160901_family_H_individual_1 biolink:Case family H individual 1 MALE phenopacket.store:NF1.PMID_20513137_individual_N2217_GSM_GSM492737 biolink:Case individual N2217_GSM_GSM492737 phenopacket.store:NF1.PMID_17160901_family_T_individual_1 biolink:Case family T individual 1 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R2135 biolink:Case UAB-R2135 MALE phenopacket.store:NF1.PMID_20513137_individual_N986_GSM_GSM492723 biolink:Case individual N986_GSM_GSM492723 phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837__individual_F biolink:Case Family UAB-R2837 * individual F FEMALE phenopacket.store:NF1.PMID_20513137_individual_N1283_GSM_GSM492721 biolink:Case individual N1283_GSM_GSM492721 phenopacket.store:NF1.PMID_26178382_CARD_CFD_II1 biolink:Case CARD-CFD-II1 MALE phenopacket.store:NF1.PMID_26178382_UG_902_II2 biolink:Case UG-902-II2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C3__individual_F biolink:Case Family UAB-R2837-C3 * individual F MALE phenopacket.store:NF1.PMID_26178382_UAB_R2945_I2 biolink:Case UAB-R2945-I2 FEMALE phenopacket.store:NF1.PMID_20513137_individual_LAP_GSM_GSM492706 biolink:Case individual LAP_GSM_GSM492706 phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_M_individual_F biolink:Case Family MIL-R999/399-M individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R4174_II1 biolink:Case UAB-R4174-II1 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R4816 biolink:Case UAB-R4816 MALE phenopacket.store:NF1.PMID_20513137_individual_NF00573_GSM_GSM492688 biolink:Case individual NF00573_GSM_GSM492688 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1333__individual_PrS biolink:Case Family UAB-R1333 * individual PrS MALE phenopacket.store:NF1.PMID_20513137_individual_N2456_GSM_GSM492740 biolink:Case individual N2456_GSM_GSM492740 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1002__individual_F biolink:Case Family UAB-R1002 * individual F FEMALE phenopacket.store:NF1.PMID_7607663_Patient_0542 biolink:Case Patient 0542 FEMALE phenopacket.store:NF1.PMID_29290338_Family_SHE_R02952CG_individual_RS biolink:Case Family SHE-R02952CG individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_M_individual_F biolink:Case Family SGR-REA-M individual F FEMALE phenopacket.store:NF1.PMID_20513137_individual_N2164_GSM_GSM492732 biolink:Case individual N2164_GSM_GSM492732 phenopacket.store:NF1.PMID_20513137_individual_VID_GSM_GSM492707 biolink:Case individual VID_GSM_GSM492707 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_individual_F biolink:Case Family UAB-R4965 individual F MALE phenopacket.store:NF1.PMID_20513137_individual_JAF_GSM_GSM492719 biolink:Case individual JAF_GSM_GSM492719 phenopacket.store:NF1.PMID_29290338_Family_ROT_R1CMUL_individual_F biolink:Case Family ROT-R1CMUL individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R391__individual_RS biolink:Case Family UG-R391 * individual RS FEMALE phenopacket.store:NF1.PMID_17160901_family_B_individual_1 biolink:Case family B individual 1 MALE phenopacket.store:NF1.PMID_20513137_individual_GOD_GSM_GSM492703 biolink:Case individual GOD_GSM_GSM492703 phenopacket.store:NF1.PMID_29290338_Family_UAB_R6805__individual_F biolink:Case Family UAB-R6805 * individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_individual_F biolink:Case Family UAB-R3508 individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_individual_F biolink:Case Family SGR-REA individual F MALE phenopacket.store:NF1.PMID_29290338_Family_SGR_RSO_individual_RS biolink:Case Family SGR-RSO individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_M_individual_F biolink:Case Family MAN-R48902G-M individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R008_II1 biolink:Case UAB-R008-II1 FEMALE phenopacket.store:NF1.PMID_36659944_Patient biolink:Case Patient MALE phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C1_individual_F biolink:Case Family PAD-R500-C1 individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_SGR_R2020_41_individual_RS biolink:Case Family SGR-R2020-41 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R665_individual_F biolink:Case Family UG-R665 individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_PAD_R300_individual_RS biolink:Case Family PAD-R300 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R1928_individual_RS biolink:Case Family UAB-R1928 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2355__individual_F biolink:Case Family UAB-R2355 * individual F FEMALE phenopacket.store:NF1.PMID_26178382_UG_575 biolink:Case UG-575 FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF01510_GSM_GSM492691 biolink:Case individual NF01510_GSM_GSM492691 phenopacket.store:NF1.PMID_26178382_UAB_R6365_I2 biolink:Case UAB-R6365-I2 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R0672 biolink:Case UAB-R0672 MALE phenopacket.store:NF1.PMID_26178382_UAB_R9266_I1 biolink:Case UAB-R9266-I1 MALE phenopacket.store:NF1.PMID_26178382_MADR_690_II1 biolink:Case MADR-690-II1 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R45201FN_101_individual_RS biolink:Case Family UAB-R45201FN.101 individual RS MALE phenopacket.store:NF1.PMID_26178382_UAB_R3154_I1 biolink:Case UAB-R3154-I1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R9266_II1 biolink:Case UAB-R9266-II1 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R5613 biolink:Case UAB-R5613 MALE phenopacket.store:NF1.PMID_17160901_family_C_individual_2 biolink:Case family C individual 2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R1474_individual_RS biolink:Case Family UAB-R1474 individual RS MALE phenopacket.store:NF1.PMID_26178382_UAB_R7626 biolink:Case UAB-R7626 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R665_F_individual_F biolink:Case Family UG-R665-F individual F MALE phenopacket.store:NF1.PMID_29290338_Family_UF_R1_individual_F biolink:Case Family UF-R1 individual F MALE phenopacket.store:NF1.PMID_26178382_MADR_694_II1 biolink:Case MADR-694-II1 MALE phenopacket.store:NF1.PMID_20513137_individual_NF00398_GSM_GSM492686 biolink:Case individual NF00398_GSM_GSM492686 phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_individual_F biolink:Case Family MAN-R95417G individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R3773 biolink:Case UAB-R3773 MALE phenopacket.store:NF1.PMID_17160901_family_D_individual_3 biolink:Case family D individual 3 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R5001_individual_RS biolink:Case Family UAB-R5001 individual RS MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3027_individual_RS biolink:Case Family UAB-R3027 individual RS FEMALE phenopacket.store:NF1.PMID_17160901_family_U_individual_1 biolink:Case family U individual 1 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R7444 biolink:Case UAB-R7444 MALE phenopacket.store:NF1.PMID_26178382_UAB_R4381 biolink:Case UAB-R4381 MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_individual_F biolink:Case Family UG-R0781 individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R6883 biolink:Case UAB-R6883 MALE phenopacket.store:NF1.PMID_17160901_family_C_individual_5 biolink:Case family C individual 5 FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF00085_GSM_GSM492692 biolink:Case individual NF00085_GSM_GSM492692 phenopacket.store:NF1.PMID_38596211_individual_4 biolink:Case individual 4 FEMALE phenopacket.store:NF1.PMID_17160901_family_A_individual_5 biolink:Case family A individual 5 MALE phenopacket.store:NF1.PMID_20513137_individual_N2603_GSM_GSM492722 biolink:Case individual N2603_GSM_GSM492722 phenopacket.store:NF1.PMID_29290338_Family_SGR_REA_S_individual_F biolink:Case Family SGR-REA-S individual F MALE phenopacket.store:NF1.PMID_26178382_UAB_R6554_II1 biolink:Case UAB-R6554-II1 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S2_individual_F biolink:Case Family UAB-R1037-S2 individual F MALE phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_793_individual_RS biolink:Case Family MAD-R3.793 individual RS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R9302 biolink:Case UAB-R9302 FEMALE phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_M_individual_F biolink:Case Family MAN-R88088G-M individual F FEMALE phenopacket.store:NF1.PMID_38596211_individual_9 biolink:Case individual 9 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2546_individual_RS biolink:Case Family UAB-R2546 individual RS MALE phenopacket.store:NF1.PMID_20513137_individual_NF00358_GSM_GSM492685 biolink:Case individual NF00358_GSM_GSM492685 phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_S1_individual_F biolink:Case Family UAB-R1037-S1 individual F MALE phenopacket.store:NF1.PMID_26178382_UAB_R1631 biolink:Case UAB-R1631 MALE phenopacket.store:NF1.PMID_26178382_UAB_R3926 biolink:Case UAB-R3926 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R09001FN_101_individual_RS biolink:Case Family UAB-R09001FN.101 individual RS MALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R17435_individual_PrS biolink:Case Family ROT-R17435 individual PrS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R4624_individual_RS biolink:Case Family UAB-R4624 individual RS MALE phenopacket.store:NF1.PMID_17160901_family_I_individual_1 biolink:Case family I individual 1 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R6913_individual_PrS biolink:Case Family UAB-R6913 individual PrS FEMALE phenopacket.store:NF1.PMID_29290338_Family_PAD_R100_individual_RS biolink:Case Family PAD-R100 individual RS MALE phenopacket.store:NF1.PMID_26178382_UAB_R3412 biolink:Case UAB-R3412 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3397__individual_RS biolink:Case Family UAB-R3397 * individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2425__individual_PrS biolink:Case Family UAB-R2425 ** individual PrS FEMALE phenopacket.store:NF1.PMID_26178382_MADR_690_II2 biolink:Case MADR-690-II2 FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF00886_GSM_GSM492682 biolink:Case individual NF00886_GSM_GSM492682 phenopacket.store:NF1.PMID_20513137_individual_N2288_GSM_GSM492738 biolink:Case individual N2288_GSM_GSM492738 phenopacket.store:NF1.PMID_20513137_individual_TRI_GSM_GSM492704 biolink:Case individual TRI_GSM_GSM492704 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3618_M_individual_F biolink:Case Family UAB-R3618-M individual F FEMALE phenopacket.store:NF1.PMID_20513137_individual_BOR_GSM_GSM492714 biolink:Case individual BOR_GSM_GSM492714 phenopacket.store:NF1.PMID_26178382_UAB_R4906 biolink:Case UAB-R4906 FEMALE phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_individual_F biolink:Case Family PAD-R500 individual F MALE phenopacket.store:NF1.PMID_26178382_UAB_R0143_I1 biolink:Case UAB-R0143-I1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R1581 biolink:Case UAB-R1581 MALE phenopacket.store:NF1.PMID_26178382_UAB_R7916 biolink:Case UAB-R7916 MALE phenopacket.store:NF1.PMID_20513137_individual_NF00234_GSM_GSM492684 biolink:Case individual NF00234_GSM_GSM492684 phenopacket.store:NF1.PMID_26178382_UAB_R7545 biolink:Case UAB-R7545 FEMALE phenopacket.store:NF1.PMID_29290338_Family_MIL_R162_individual_RS biolink:Case Family MIL-R162 individual RS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R9851 biolink:Case UAB-R9851 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R2376 biolink:Case UAB-R2376 MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R9981_individual_RS biolink:Case Family UG-R9981 individual RS MALE phenopacket.store:NF1.PMID_26178382_UAB_R8575 biolink:Case UAB-R8575 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2696_individual_PrS biolink:Case Family UAB-R2696 individual PrS MALE phenopacket.store:NF1.PMID_26178382_UAB_R4517 biolink:Case UAB-R4517 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R923__individual_F biolink:Case Family UG-R923 * individual F MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R4444__individual_PrS biolink:Case Family UAB-R4444 * individual PrS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R8423 biolink:Case UAB-R8423 MALE phenopacket.store:NF1.PMID_29290338_Family_CAR_R8012M6__individual_NS biolink:Case Family CAR-R8012M6 ** individual NS MALE phenopacket.store:NF1.PMID_17160901_family_S_individual_1 biolink:Case family S individual 1 FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF00028_GSM_GSM492679 biolink:Case individual NF00028_GSM_GSM492679 phenopacket.store:NF1.PMID_26178382_UAB_R7464 biolink:Case UAB-R7464 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R9493__individual_F biolink:Case Family UAB-R9493 * individual F MALE phenopacket.store:NF1.PMID_17160901_family_P_individual_1 biolink:Case family P individual 1 MALE phenopacket.store:NF1.PMID_17160901_family_D_individual_1 biolink:Case family D individual 1 FEMALE phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_M_individual_F biolink:Case Family MAN-R95417G-M individual F FEMALE phenopacket.store:NF1.PMID_20513137_individual_DIE_GSM_GSM492709 biolink:Case individual DIE_GSM_GSM492709 phenopacket.store:NF1.PMID_20513137_individual_NF00222_GSM_GSM492700 biolink:Case individual NF00222_GSM_GSM492700 phenopacket.store:NF1.PMID_20513137_individual_N1918_GSM_GSM492731 biolink:Case individual N1918_GSM_GSM492731 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0147_individual_RS biolink:Case Family UAB-R0147 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R0903__individual_PrS biolink:Case Family UAB-R0903 * individual PrS MALE phenopacket.store:NF1.PMID_20513137_individual_N637_GSM_GSM492748 biolink:Case individual N637_GSM_GSM492748 phenopacket.store:NF1.PMID_26178382_UAB_R6935 biolink:Case UAB-R6935 FEMALE phenopacket.store:NF1.PMID_20513137_individual_GEO_GSM_GSM492699 biolink:Case individual GEO_GSM_GSM492699 phenopacket.store:NF1.PMID_20513137_individual_YAH_GSM_GSM492705 biolink:Case individual YAH_GSM_GSM492705 phenopacket.store:NF1.PMID_29290338_Family_UAB_R8047_individual_PrS biolink:Case Family UAB-R8047 individual PrS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R9062 biolink:Case UAB-R9062 MALE phenopacket.store:NF1.PMID_17160901_family_E_individual_3 biolink:Case family E individual 3 MALE phenopacket.store:NF1.PMID_29290338_Family_UL_R83988968_individual_RS biolink:Case Family UL-R83988968 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_M_individual_F biolink:Case Family UAB-R1037-M individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R008_II2 biolink:Case UAB-R008-II2 MALE phenopacket.store:NF1.PMID_20513137_individual_HUM_GSM_GSM492743 biolink:Case individual HUM_GSM_GSM492743 phenopacket.store:NF1.PMID_29290338_Family_UAB_R3237_individual_RS biolink:Case Family UAB-R3237 individual RS FEMALE phenopacket.store:NF1.PMID_17160901_family_C_individual_3 biolink:Case family C individual 3 FEMALE phenopacket.store:NF1.PMID_17160901_family_A_individual_3 biolink:Case family A individual 3 FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF01465_GSM_GSM492681 biolink:Case individual NF01465_GSM_GSM492681 phenopacket.store:NF1.PMID_17160901_family_K_individual_1 biolink:Case family K individual 1 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R4122 biolink:Case UAB-R4122 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R5153_I2 biolink:Case UAB-R5153-I2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R21382_individual_F biolink:Case Family ROT-R21382 individual F MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R399_individual_PrS biolink:Case Family UG-R399 individual PrS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R4346 biolink:Case UAB-R4346 MALE phenopacket.store:NF1.PMID_26178382_UAB_R1583 biolink:Case UAB-R1583 MALE phenopacket.store:NF1.PMID_20513137_individual_PAW_GSM_GSM492715 biolink:Case individual PAW_GSM_GSM492715 phenopacket.store:NF1.PMID_38596211_individual_12 biolink:Case individual 12 MALE phenopacket.store:NF1.PMID_29290338_Family_CAR_R66800_individual_RS biolink:Case Family CAR-R66800 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S3__individual_F biolink:Case Family UG-R01-S3 ** individual F MALE phenopacket.store:NF1.PMID_20513137_individual_NF01152_GSM_GSM492694 biolink:Case individual NF01152_GSM_GSM492694 phenopacket.store:NF1.PMID_20513137_individual_DEN_GSM_GSM492708 biolink:Case individual DEN_GSM_GSM492708 phenopacket.store:NF1.PMID_20513137_individual_OLI_GSM_GSM492697 biolink:Case individual OLI_GSM_GSM492697 phenopacket.store:NF1.PMID_26178382_UAB_R5846 biolink:Case UAB-R5846 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3537__individual_RS biolink:Case Family UAB-R3537 * individual RS FEMALE phenopacket.store:NF1.PMID_17160901_family_E_individual_2 biolink:Case family E individual 2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R38601FN_203_individual_RS biolink:Case Family UAB-R38601FN.203 individual RS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R6651_II1 biolink:Case UAB-R6651-II1 MALE phenopacket.store:NF1.PMID_26178382_CARD_CFB_I2 biolink:Case CARD-CFB-I2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_CAR_R655763_individual_RS biolink:Case Family CAR-R655763 individual RS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R9813_I1 biolink:Case UAB-R9813-I1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R0584 biolink:Case UAB-R0584 MALE phenopacket.store:NF1.PMID_26178382_UAB_R663 biolink:Case UAB-R663 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R5794_individual_RS biolink:Case Family UAB-R5794 individual RS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R0746 biolink:Case UAB-R0746 FEMALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R2CMUL_individual_RS biolink:Case Family ROT-R2CMUL individual RS MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R7836__individual_PrS biolink:Case Family UAB-R7836 * individual PrS FEMALE phenopacket.store:NF1.PMID_17160901_family_G_individual_1 biolink:Case family G individual 1 MALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R13734_individual_UN biolink:Case Family ROT-R13734 individual UN FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R278 biolink:Case UAB-R278 MALE phenopacket.store:NF1.PMID_38596211_individual_16 biolink:Case individual 16 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R7171 biolink:Case UAB-R7171 FEMALE phenopacket.store:NF1.PMID_26178382_UG_962_II1 biolink:Case UG-962-II1 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R1227_individual_RS biolink:Case Family UAB-R1227 individual RS FEMALE phenopacket.store:NF1.PMID_38596211_individual_2 biolink:Case individual 2 FEMALE phenopacket.store:NF1.PMID_17160901_family_E_individual_4 biolink:Case family E individual 4 MALE phenopacket.store:NF1.PMID_17160901_family_D_individual_4 biolink:Case family D individual 4 MALE phenopacket.store:NF1.PMID_26178382_UAB_R0302 biolink:Case UAB-R0302 MALE phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_F_individual_F biolink:Case Family MIL-R192/982-F individual F MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3513_individual_PrS biolink:Case Family UAB-R3513 individual PrS FEMALE phenopacket.store:NF1.PMID_20513137_individual_N1248_GSM_GSM492728 biolink:Case individual N1248_GSM_GSM492728 phenopacket.store:NF1.PMID_26178382_UAB_R008_I1 biolink:Case UAB-R008-I1 MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R004_individual_RS biolink:Case Family UG-R004 individual RS FEMALE phenopacket.store:NF1.PMID_20513137_individual_MAR_GSM_GSM492744 biolink:Case individual MAR_GSM_GSM492744 phenopacket.store:NF1.PMID_26178382_UAB_R6554_I2 biolink:Case UAB-R6554-I2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_084_individual_RS biolink:Case Family MAD-R3.084 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S1__individual_F biolink:Case Family UG-R01-S1 * individual F MALE phenopacket.store:NF1.PMID_26178382_UAB_R9414 biolink:Case UAB-R9414 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R3101_individual_RS biolink:Case Family UG-R3101 individual RS MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R9676_individual_PrS biolink:Case Family UAB-R9676 individual PrS FEMALE phenopacket.store:NF1.PMID_38596211_individual_11 biolink:Case individual 11 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R289_individual_RS biolink:Case Family UAB-R289 individual RS MALE phenopacket.store:NF1.PMID_20513137_individual_RUA_GSM_GSM492698 biolink:Case individual RUA_GSM_GSM492698 phenopacket.store:NF1.PMID_26178382_UAB_R4174_I1 biolink:Case UAB-R4174-I1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R8406 biolink:Case UAB-R8406 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R5153_II1 biolink:Case UAB-R5153-II1 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R829__individual_RS biolink:Case Family UG-R829 ** individual RS MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R746_individual_RS biolink:Case Family UG-R746 individual RS FEMALE phenopacket.store:NF1.PMID_38596211_individual_14 biolink:Case individual 14 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R0892__individual_RS biolink:Case Family UAB-R0892 ** individual RS FEMALE phenopacket.store:NF1.PMID_26178382_UG_902_II1 biolink:Case UG-902-II1 MALE phenopacket.store:NF1.PMID_20513137_individual_NF00908_GSM_GSM492702 biolink:Case individual NF00908_GSM_GSM492702 phenopacket.store:NF1.PMID_17160901_family_C_individual_1 biolink:Case family C individual 1 FEMALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R22853_individual_PrS biolink:Case Family ROT-R22853 individual PrS MALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R49013_individual_RS biolink:Case Family ROT-R49013 individual RS MALE phenopacket.store:NF1.PMID_17160901_family_E_individual_1 biolink:Case family E individual 1 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R923_S__individual_F biolink:Case Family UG-R923-S * individual F FEMALE phenopacket.store:NF1.PMID_17160901_family_C_individual_8 biolink:Case family C individual 8 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_S_individual_F biolink:Case Family UG-R0781-S individual F FEMALE phenopacket.store:NF1.PMID_26178382_MADR_694_I2 biolink:Case MADR-694-I2 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R5455_I2 biolink:Case UAB-R5455-I2 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R0143_II1 biolink:Case UAB-R0143-II1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R7442 biolink:Case UAB-R7442 MALE phenopacket.store:NF1.PMID_9101303_patient biolink:Case patient MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2837_C2__individual_F biolink:Case Family UAB-R2837-C2 * individual F FEMALE phenopacket.store:NF1.PMID_17160901_family_Q_individual_1 biolink:Case family Q individual 1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R4912 biolink:Case UAB-R4912 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R7904__individual_F biolink:Case Family UAB-R7904 * individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R744 biolink:Case UAB-R744 MALE phenopacket.store:NF1.PMID_29290338_Family_MAN_R48902G_individual_F biolink:Case Family MAN-R48902G individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R704_II1 biolink:Case UAB-R704-II1 FEMALE phenopacket.store:NF1.PMID_29290338_Family_PAD_R500_C2_individual_F biolink:Case Family PAD-R500-C2 individual F MALE phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7101_individual_RS biolink:Case Family MAD-R3.7101 individual RS MALE phenopacket.store:NF1.PMID_26178382_UAB_R5863_I1 biolink:Case UAB-R5863-I1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R4844 biolink:Case UAB-R4844 FEMALE phenopacket.store:NF1.PMID_17160901_family_M_individual_1 biolink:Case family M individual 1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R704_I1 biolink:Case UAB-R704-I1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R7641_II1 biolink:Case UAB-R7641-II1 FEMALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R02233_individual_PrS biolink:Case Family ROT-R02233 individual PrS FEMALE phenopacket.store:NF1.PMID_20513137_individual_N1683_GSM_GSM492730 biolink:Case individual N1683_GSM_GSM492730 phenopacket.store:NF1.PMID_17160901_family_A_individual_1 biolink:Case family A individual 1 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R2265 biolink:Case UAB-R2265 MALE phenopacket.store:NF1.PMID_29290338_Family_CAR_R18010M61__individual_F biolink:Case Family CAR-R18010M61 ** individual F MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R5776__individual_RS biolink:Case Family UAB-R5776 * individual RS FEMALE phenopacket.store:NF1.PMID_17160901_family_A_individual_4 biolink:Case family A individual 4 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R9216_II1 biolink:Case UAB-R9216-II1 MALE phenopacket.store:NF1.PMID_26178382_BARC_123_II2 biolink:Case BARC-123-II2 MALE phenopacket.store:NF1.PMID_17160901_family_F_individual_2 biolink:Case family F individual 2 MALE phenopacket.store:NF1.PMID_26178382_UAB_R7856 biolink:Case UAB-R7856 FEMALE phenopacket.store:NF1.PMID_7607663_Patient_0541 biolink:Case Patient 0541 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2934_individual_F biolink:Case Family UAB-R2934 individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2266_individual_PrS biolink:Case Family UAB-R2266 individual PrS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R3154_II1 biolink:Case UAB-R3154-II1 FEMALE phenopacket.store:NF1.PMID_17160901_family_A_individual_2 biolink:Case family A individual 2 MALE phenopacket.store:NF1.PMID_29290338_Family_MIL_R168_individual_RS biolink:Case Family MIL-R168 individual RS FEMALE phenopacket.store:NF1.PMID_20513137_individual_N2179_GSM_GSM492736 biolink:Case individual N2179_GSM_GSM492736 phenopacket.store:NF1.PMID_20513137_individual_LAF_GSM_GSM492712 biolink:Case individual LAF_GSM_GSM492712 phenopacket.store:NF1.PMID_26178382_UAB_R414 biolink:Case UAB-R414 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R9821_individual_F biolink:Case Family UG-R9821 individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R7641_I2 biolink:Case UAB-R7641-I2 FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF01470_GSM_GSM492690 biolink:Case individual NF01470_GSM_GSM492690 phenopacket.store:NF1.PMID_26178382_UAB_R3933 biolink:Case UAB-R3933 MALE phenopacket.store:NF1.PMID_26178382_UAB_R5913_II1 biolink:Case UAB-R5913-II1 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R9962__individual_RS_mother_neg_father_not_available biolink:Case Family UAB-R9962 ** individual RS/ mother-neg; father not available FEMALE phenopacket.store:NF1.PMID_38596211_individual_1 biolink:Case individual 1 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R9291_individual_F biolink:Case Family UG-R9291 individual F MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R45401FN_201_individual_PrS biolink:Case Family UAB-R45401FN.201 individual PrS FEMALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R36375_individual_RS biolink:Case Family ROT-R36375 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_409_individual_RS biolink:Case Family MAD-R3.409 individual RS MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R9135__individual_PrS biolink:Case Family UAB-R9135 * individual PrS MALE phenopacket.store:NF1.PMID_26178382_UAB_R9044 biolink:Case UAB-R9044 MALE phenopacket.store:NF1.PMID_8664912_Patient_0545 biolink:Case Patient 0545 MALE phenopacket.store:NF1.PMID_26178382_UAB_R8141 biolink:Case UAB-R8141 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R0008_individual_RS biolink:Case Family UAB-R0008 individual RS FEMALE phenopacket.store:NF1.PMID_17160901_family_J_individual_1 biolink:Case family J individual 1 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R7705 biolink:Case UAB-R7705 FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF00759_GSM_GSM492689 biolink:Case individual NF00759_GSM_GSM492689 phenopacket.store:NF1.PMID_29290338_Family_UAB_R4476__individual_PrS biolink:Case Family UAB-R4476 * individual PrS MALE phenopacket.store:NF1.PMID_26178382_UAB_R519_II1 biolink:Case UAB-R519-II1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R3885 biolink:Case UAB-R3885 MALE phenopacket.store:NF1.PMID_17160901_family_C_individual_6 biolink:Case family C individual 6 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2087_individual_PrS biolink:Case Family UAB-R2087 individual PrS MALE phenopacket.store:NF1.PMID_29290338_Family_SGR_RGEA_individual_RS biolink:Case Family SGR-RGEA individual RS MALE phenopacket.store:NF1.PMID_26178382_MADR_690_I2 biolink:Case MADR-690-I2 FEMALE phenopacket.store:NF1.PMID_26178382_CARD_CFE biolink:Case CARD-CFE MALE phenopacket.store:NF1.PMID_26178382_UAB_R2996_II1 biolink:Case UAB-R2996-II1 FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF01585_GSM_GSM492695 biolink:Case individual NF01585_GSM_GSM492695 phenopacket.store:NF1.PMID_26178382_UAB_R6673_I1 biolink:Case UAB-R6673-I1 MALE phenopacket.store:NF1.PMID_38596211_individual_6 biolink:Case individual 6 MALE phenopacket.store:NF1.PMID_26178382_UAB_R5625 biolink:Case UAB-R5625 MALE phenopacket.store:NF1.PMID_29290338_Family_PAD_R200_individual_RS biolink:Case Family PAD-R200 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3714_individual_PrS biolink:Case Family UAB-R3714 individual PrS MALE phenopacket.store:NF1.PMID_20513137_individual_NF01094_GSM_GSM492745 biolink:Case individual NF01094_GSM_GSM492745 phenopacket.store:NF1.PMID_29290338_Family_UAB_R01701FN_103_individual_F biolink:Case Family UAB-R01701FN.103 individual F FEMALE phenopacket.store:NF1.PMID_26178382_UG_902_I2 biolink:Case UG-902-I2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_BRA_R38_individual_RS biolink:Case Family BRA-R38 individual RS MALE phenopacket.store:NF1.PMID_17160901_family_L_individual_1 biolink:Case family L individual 1 MALE phenopacket.store:NF1.PMID_26178382_MADR_PP_II1 biolink:Case MADR-PP-II1 MALE phenopacket.store:NF1.PMID_38596211_individual_10 biolink:Case individual 10 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R8475_individual_PrS biolink:Case Family UAB-R8475 individual PrS MALE phenopacket.store:NF1.PMID_8664912_Patient_0544_twin_1 biolink:Case Patient 0544 twin 1 FEMALE phenopacket.store:NF1.PMID_38596211_individual_3 biolink:Case individual 3 MALE phenopacket.store:NF1.PMID_17160901_family_C_individual_7 biolink:Case family C individual 7 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R6106__individual_RS biolink:Case Family UAB-R6106 * individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_MIL_R999_399_individual_F biolink:Case Family MIL-R999/399 individual F FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF01507_GSM_GSM492683 biolink:Case individual NF01507_GSM_GSM492683 phenopacket.store:NF1.PMID_26178382_MADR_694_II2 biolink:Case MADR-694-II2 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R9216_I2 biolink:Case UAB-R9216-I2 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R2945_II2 biolink:Case UAB-R2945-II2 FEMALE phenopacket.store:NF1.PMID_17160901_family_R_individual_1 biolink:Case family R individual 1 MALE phenopacket.store:NF1.PMID_17160901_family_D_individual_2 biolink:Case family D individual 2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_CAR_RNIS_individual_F biolink:Case Family CAR-RNIS individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R7961 biolink:Case UAB-R7961 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UG_R923_M__individual_F biolink:Case Family UG-R923-M * individual F FEMALE phenopacket.store:NF1.PMID_26178382_UG_962_I2 biolink:Case UG-962-I2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R89874_individual_UN biolink:Case Family ROT-R89874 individual UN FEMALE phenopacket.store:NF1.PMID_26178382_MADR_PP_II2 biolink:Case MADR-PP-II2 MALE phenopacket.store:NF1.PMID_26178382_UAB_R5913_I2 biolink:Case UAB-R5913-I2 FEMALE phenopacket.store:NF1.PMID_20513137_individual_NF01053_GSM_GSM492693 biolink:Case individual NF01053_GSM_GSM492693 phenopacket.store:NF1.PMID_26178382_UAB_R519_II2 biolink:Case UAB-R519-II2 MALE phenopacket.store:NF1.PMID_20513137_individual_NF00437_GSM_GSM492687 biolink:Case individual NF00437_GSM_GSM492687 phenopacket.store:NF1.PMID_29290338_Family_UAB_R7447_individual_RS biolink:Case Family UAB-R7447 individual RS FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3508_M_individual_F biolink:Case Family UAB-R3508-M individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R8216 biolink:Case UAB-R8216 MALE phenopacket.store:NF1.PMID_26178382_UAB_R3175 biolink:Case UAB-R3175 MALE phenopacket.store:NF1.PMID_26178382_UAB_R4835 biolink:Case UAB-R4835 FEMALE phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_S_individual_F biolink:Case Family MIL-R192/982-S individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_MAN_R95417G_C_individual_F biolink:Case Family MAN-R95417G-C individual F MALE phenopacket.store:NF1.PMID_26178382_UAB_R2834 biolink:Case UAB-R2834 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R9813_II1 biolink:Case UAB-R9813-II1 FEMALE phenopacket.store:NF1.PMID_38596211_individual_13 biolink:Case individual 13 FEMALE phenopacket.store:NF1.PMID_29290338_Family_MAN_R98522G_individual_RS biolink:Case Family MAN-R98522G individual RS MALE phenopacket.store:NF1.PMID_17160901_family_C_individual_10 biolink:Case family C individual 10 FEMALE phenopacket.store:NF1.PMID_38596211_individual_7 biolink:Case individual 7 MALE phenopacket.store:NF1.PMID_26178382_UAB_R5863_II1 biolink:Case UAB-R5863-II1 MALE phenopacket.store:NF1.PMID_29290338_Family_MAD_R3_7001_individual_RS biolink:Case Family MAD-R3.7001 individual RS MALE phenopacket.store:NF1.PMID_20513137_individual_N2166_GSM_GSM492734 biolink:Case individual N2166_GSM_GSM492734 phenopacket.store:NF1.PMID_29290338_Family_UAB_R0075__individual_PrS biolink:Case Family UAB-R0075 * individual PrS MALE phenopacket.store:NF1.PMID_20513137_individual_NF00663_GSM_GSM492680 biolink:Case individual NF00663_GSM_GSM492680 phenopacket.store:NF1.PMID_26178382_UAB_R4653 biolink:Case UAB-R4653 MALE phenopacket.store:NF1.PMID_29290338_Family_MIL_R481_559_individual_RS biolink:Case Family MIL-R481/559 individual RS MALE phenopacket.store:NF1.PMID_26178382_UAB_R4174_II2 biolink:Case UAB-R4174-II2 MALE phenopacket.store:NF1.PMID_26178382_UAB_R8414 biolink:Case UAB-R8414 MALE phenopacket.store:NF1.PMID_38596211_individual_5 biolink:Case individual 5 MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R5831_individual_PrS biolink:Case Family UG-R5831 individual PrS FEMALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R37511_individual_F biolink:Case Family ROT-R37511 individual F MALE phenopacket.store:NF1.PMID_38596211_individual_15 biolink:Case individual 15 MALE phenopacket.store:NF1.PMID_26178382_UAB_R2996_I2 biolink:Case UAB-R2996-I2 FEMALE phenopacket.store:NF1.PMID_17160901_family_O_individual_1 biolink:Case family O individual 1 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R1037_individual_F biolink:Case Family UAB-R1037 individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R4965_F_individual_F biolink:Case Family UAB-R4965-F individual F MALE phenopacket.store:NF1.PMID_26178382_UAB_R8902 biolink:Case UAB-R8902 MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C1_individual_F biolink:Case Family UG-R01-C1 individual F MALE phenopacket.store:NF1.PMID_26178382_UAB_R2945_II1 biolink:Case UAB-R2945-II1 FEMALE phenopacket.store:NF1.PMID_20513137_individual_GUE_GSM_GSM492710 biolink:Case individual GUE_GSM_GSM492710 phenopacket.store:NF1.PMID_29290338_Family_UAB_R624_individual_PrS biolink:Case Family UAB-R624 individual PrS FEMALE phenopacket.store:NF1.PMID_26178382_MADR_690_I1 biolink:Case MADR-690-I1 MALE phenopacket.store:NF1.PMID_29290338_Family_MIL_R361_018_individual_F biolink:Case Family MIL-R361/018 individual F FEMALE phenopacket.store:NF1.PMID_17160901_family_N_individual_1 biolink:Case family N individual 1 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R6636 biolink:Case UAB-R6636 FEMALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R95424_individual_F biolink:Case Family ROT-R95424 individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R3702 biolink:Case UAB-R3702 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R9402_individual_RS biolink:Case Family UAB-R9402 individual RS MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R01_individual_F biolink:Case Family UG-R01 individual F FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R3636 biolink:Case UAB-R3636 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R1565 biolink:Case UAB-R1565 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R0713_individual_RS biolink:Case Family UAB-R0713 individual RS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R6673_II2 biolink:Case UAB-R6673-II2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_MIL_R192_982_individual_F biolink:Case Family MIL-R192/982 individual F FEMALE phenopacket.store:NF1.PMID_26178382_CARD_CFC biolink:Case CARD-CFC MALE phenopacket.store:NF1.PMID_26178382_UAB_R6651_I2 biolink:Case UAB-R6651-I2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R4676_individual_RS biolink:Case Family UAB-R4676 individual RS MALE phenopacket.store:NF1.PMID_17160901_family_C_individual_9 biolink:Case family C individual 9 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R9324_individual_F biolink:Case Family UAB-R9324 individual F MALE phenopacket.store:NF1.PMID_29290338_Family_ROT_R9008_individual_F biolink:Case Family ROT-R9008 individual F FEMALE phenopacket.store:NF1.PMID_20513137_individual_PAN_GSM_GSM492724 biolink:Case individual PAN_GSM_GSM492724 phenopacket.store:NF1.PMID_26178382_UAB_R0844_II1 biolink:Case UAB-R0844-II1 MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R2492_individual_F biolink:Case Family UAB-R2492 individual F MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R0781_C_individual_F biolink:Case Family UG-R0781-C individual F MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R8597__individual_F biolink:Case Family UAB-R8597 * individual F FEMALE phenopacket.store:NF1.PMID_26178382_MADR_PP_I2 biolink:Case MADR-PP-I2 FEMALE phenopacket.store:NF1.PMID_17160901_family_B_individual_2 biolink:Case family B individual 2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3725_individual_RS biolink:Case Family UAB-R3725 individual RS MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R3152_individual_RS biolink:Case Family UAB-R3152 individual RS MALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R36301FN_101_individual_RS biolink:Case Family UAB-R36301FN.101 individual RS FEMALE phenopacket.store:NF1.PMID_17160901_family_A_individual_7 biolink:Case family A individual 7 MALE phenopacket.store:NF1.PMID_20513137_individual_N2165_GSM_GSM492733 biolink:Case individual N2165_GSM_GSM492733 phenopacket.store:NF1.PMID_20513137_individual_NF00596_GSM_GSM492701 biolink:Case individual NF00596_GSM_GSM492701 phenopacket.store:NF1.PMID_20513137_individual_N849_GSM_GSM492747 biolink:Case individual N849_GSM_GSM492747 phenopacket.store:NF1.PMID_26178382_MADR_354 biolink:Case MADR-354 FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R3133 biolink:Case UAB-R3133 MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R01_C2_individual_F biolink:Case Family UG-R01-C2 individual F MALE phenopacket.store:NF1.PMID_26178382_UAB_R0844_I1 biolink:Case UAB-R0844-I1 MALE phenopacket.store:NF1.PMID_26178382_UAB_R5455_II1 biolink:Case UAB-R5455-II1 MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R01_M__individual_F biolink:Case Family UG-R01-M * individual F FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R0252__individual_RS biolink:Case Family UAB-R0252 * individual RS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R2261 biolink:Case UAB-R2261 FEMALE phenopacket.store:NF1.PMID_29290338_Family_MAN_R88088G_individual_F biolink:Case Family MAN-R88088G individual F FEMALE phenopacket.store:NF1.PMID_17160901_family_F_individual_1 biolink:Case family F individual 1 MALE phenopacket.store:NF1.PMID_29290338_Family_UG_R01_S2__individual_F biolink:Case Family UG-R01-S2 * individual F FEMALE phenopacket.store:NF1.PMID_26178382_CARD_CFB_II1 biolink:Case CARD-CFB-II1 FEMALE phenopacket.store:NF1.PMID_20513137_individual_SOL_GSM_GSM492727 biolink:Case individual SOL_GSM_GSM492727 phenopacket.store:NF1.PMID_26178382_BARC_123_I2 biolink:Case BARC-123-I2 FEMALE phenopacket.store:NF1.PMID_29290338_Family_UAB_R8357__individual_RS biolink:Case Family UAB-R8357 * individual RS FEMALE phenopacket.store:NF1.PMID_26178382_UAB_R2635 biolink:Case UAB-R2635 MALE phenopacket.store:NFU1.PMID_36256512_F4_II_4 biolink:Case F4-II:4 FEMALE phenopacket.store:NFU1.PMID_36256512_F8_II_5 biolink:Case F8-II:5 MALE phenopacket.store:NFU1.PMID_36256512_F6_II_3 biolink:Case F6-II:3 MALE phenopacket.store:NFU1.PMID_36256512_F5_II_1 biolink:Case F5-II:1 FEMALE phenopacket.store:NFU1.PMID_36256512_F1_II_1 biolink:Case F1-II:1 FEMALE phenopacket.store:NFU1.PMID_36256512_F2_II_1 biolink:Case F2-II:1 MALE phenopacket.store:NFU1.PMID_36256512_F1_II_2 biolink:Case F1-II:2 FEMALE phenopacket.store:NFU1.PMID_36256512_F5_II_2 biolink:Case F5-II:2 MALE phenopacket.store:NFU1.PMID_36256512_F6_II_2 biolink:Case F6-II:2 MALE phenopacket.store:NFU1.PMID_36256512_F4_II_5 biolink:Case F4-II:5 FEMALE phenopacket.store:NFU1.PMID_36256512_F4_II_6 biolink:Case F4-II:6 FEMALE phenopacket.store:NFU1.PMID_36256512_F9_II_1 biolink:Case F9-II:1 MALE phenopacket.store:NFU1.PMID_36256512_F3_II_1 biolink:Case F3-II:1 FEMALE phenopacket.store:NFU1.PMID_36256512_F10_II_1 biolink:Case F10-II:1 MALE phenopacket.store:NFU1.PMID_36256512_F7_II_2 biolink:Case F7-II:2 MALE phenopacket.store:NFU1.PMID_36256512_F10_II_2 biolink:Case F10-II:2 FEMALE phenopacket.store:NFU1.PMID_36256512_F8_II_6 biolink:Case F8-II:6 MALE phenopacket.store:NFU1.PMID_32747156_patient biolink:Case patient FEMALE phenopacket.store:NFU1.PMID_36256512_F3_II_2 biolink:Case F3-II:2 MALE phenopacket.store:NFU1.PMID_25758857_Clinical_data biolink:Case Clinical data MALE phenopacket.store:NFU1.PMID_36256512_F7_II_1 biolink:Case F7-II:1 MALE phenopacket.store:NHLRC1.PMID_16021330_SIZ545_1 biolink:Case SIZ545 (1) phenopacket.store:NHLRC1.PMID_16021330_LDJP2_1 biolink:Case LDJP2 (1) phenopacket.store:NHLRC1.PMID_15781812_individual_138 biolink:Case individual 138 phenopacket.store:NHLRC1.PMID_15781812_individual_143 biolink:Case individual 143 phenopacket.store:NHLRC1.PMID_15781812_individual_146 biolink:Case individual 146 phenopacket.store:NHLRC1.PMID_15781812_individual_174 biolink:Case individual 174 phenopacket.store:NHLRC1.PMID_15781812_individual_120 biolink:Case individual 120 phenopacket.store:NHLRC1.PMID_15781812_individual_176 biolink:Case individual 176 phenopacket.store:NHLRC1.PMID_15781812_individual_147_4 biolink:Case individual 147-4 phenopacket.store:NHLRC1.PMID_15781812_individual_148 biolink:Case individual 148 phenopacket.store:NHLRC1.PMID_16021330_LDJP11_1 biolink:Case LDJP11 (1) phenopacket.store:NHLRC1.PMID_15781812_individual_137_3 biolink:Case individual 137-3 phenopacket.store:NHLRC1.PMID_15781812_individual_123 biolink:Case individual 123 phenopacket.store:NHLRC1.PMID_16021330_LDJP12_1 biolink:Case LDJP12 (1) phenopacket.store:NHLRC1.PMID_16021330_LDJP1_1 biolink:Case LDJP1 (1) phenopacket.store:NHLRC1.PMID_15781812_individual_127 biolink:Case individual 127 phenopacket.store:NHLRC1.PMID_15781812_individual_137_4 biolink:Case individual 137-4 phenopacket.store:NHLRC1.PMID_15781812_individual_147_3 biolink:Case individual 147-3 phenopacket.store:NHLRC1.PMID_15781812_individual_103 biolink:Case individual 103 phenopacket.store:NHLRC1.PMID_15781812_individual_167 biolink:Case individual 167 phenopacket.store:NHLRC1.PMID_15781812_individual_104 biolink:Case individual 104 phenopacket.store:NHLRC1.PMID_15781812_individual_175 biolink:Case individual 175 phenopacket.store:NHS.PMID_30642278_proband_III_1 biolink:Case proband III:1 MALE phenopacket.store:NHS.PMID_30642278_individual_II_5 biolink:Case individual II:5 MALE phenopacket.store:NIPBL.PMID_32074972_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:NIPBL.PMID_22241092_Patient_CDL454 biolink:Case Patient CDL454 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:NIPBL.PMID_22241092_Patient_CDL283 biolink:Case Patient CDL283 FEMALE phenopacket.store:NIPBL.PMID_20358602_Patient_C29 biolink:Case Patient C29 FEMALE phenopacket.store:NIPBL.PMID_20358602_Patient_C28 biolink:Case Patient C28 MALE phenopacket.store:NIPBL.PMID_22241092_Patient_CDL266 biolink:Case Patient CDL266 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_25 biolink:Case Patient 25 MALE phenopacket.store:NIPBL.PMID_38284454_Patient_9 biolink:Case Patient 9 phenopacket.store:NIPBL.PMID_20358602_Patient_C25 biolink:Case Patient C25 FEMALE phenopacket.store:NIPBL.PMID_20358602_Patient_C21 biolink:Case Patient C21 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:NIPBL.PMID_36777704_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:NIPBL.PMID_31337854_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:NIPBL.PMID_22241092_Patient_CDL341 biolink:Case Patient CDL341 MALE phenopacket.store:NIPBL.PMID_21165303_case_report biolink:Case case report MALE phenopacket.store:NIPBL.PMID_38284454_Patient_14 biolink:Case Patient 14 phenopacket.store:NIPBL.PMID_20358602_Patient_C26 biolink:Case Patient C26 FEMALE phenopacket.store:NIPBL.PMID_31337854_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_54 biolink:Case Patient 54 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_45 biolink:Case Patient 45 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_28 biolink:Case Patient 28 FEMALE phenopacket.store:NIPBL.PMID_20358602_Patient_C8 biolink:Case Patient C8 MALE phenopacket.store:NIPBL.PMID_22241092_Patient_CDL340 biolink:Case Patient CDL340 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_55 biolink:Case Patient 55 FEMALE phenopacket.store:NIPBL.PMID_31337854_Patient_38 biolink:Case Patient 38 FEMALE phenopacket.store:NIPBL.PMID_25447906_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:NIPBL.PMID_38284454_Patient_1 biolink:Case Patient 1 phenopacket.store:NIPBL.PMID_38284454_Patient_4 biolink:Case Patient 4 phenopacket.store:NIPBL.PMID_31337854_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:NIPBL.PMID_31337854_Patient_48 biolink:Case Patient 48 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_10 biolink:Case Patient 10 FEMALE phenopacket.store:NIPBL.PMID_22241092_Patient_CDL406 biolink:Case Patient CDL406 MALE phenopacket.store:NIPBL.PMID_32074972_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_41 biolink:Case Patient 41 MALE phenopacket.store:NIPBL.PMID_20358602_Patient_C14 biolink:Case Patient C14 FEMALE phenopacket.store:NIPBL.PMID_31337854_Patient_50 biolink:Case Patient 50 FEMALE phenopacket.store:NIPBL.PMID_25447906_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:NIPBL.PMID_25447906_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:NIPBL.PMID_20358602_Patient_C18 biolink:Case Patient C18 FEMALE phenopacket.store:NIPBL.PMID_23304577_Case_Report biolink:Case Case Report MALE phenopacket.store:NIPBL.PMID_31337854_Patient_13 biolink:Case Patient 13 MALE phenopacket.store:NIPBL.PMID_20358602_Patient_C10 biolink:Case Patient C10 MALE phenopacket.store:NIPBL.PMID_22241092_Patient_CDL223 biolink:Case Patient CDL223 FEMALE phenopacket.store:NIPBL.PMID_32074972_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_31 biolink:Case Patient 31 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_15 biolink:Case Patient 15 FEMALE phenopacket.store:NIPBL.PMID_30246735_newborn biolink:Case newborn FEMALE phenopacket.store:NIPBL.PMID_20358602_Patient_C20 biolink:Case Patient C20 FEMALE phenopacket.store:NIPBL.PMID_31337854_Patient_39 biolink:Case Patient 39 MALE phenopacket.store:NIPBL.PMID_31337854_Patient_17 biolink:Case Patient 17 MALE phenopacket.store:NIPBL.PMID_38284454_Patient_3 biolink:Case Patient 3 phenopacket.store:NIPBL.PMID_31337854_Patient_49 biolink:Case Patient 49 FEMALE phenopacket.store:NIPBL.PMID_31337854_Patient_36 biolink:Case Patient 36 MALE phenopacket.store:NIPBL.PMID_20358602_Patient_C5 biolink:Case Patient C5 FEMALE phenopacket.store:NIPBL.PMID_38284454_Patient_11 biolink:Case Patient 11 phenopacket.store:NIPBL.PMID_38284454_Patient_13 biolink:Case Patient 13 phenopacket.store:NIPBL.PMID_38284454_Patient_10 biolink:Case Patient 10 phenopacket.store:NIPBL.PMID_36777704_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:NKX6-2.PMID_31509304_F4_III_2 biolink:Case F4-III:2 MALE phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653002_Pt3 biolink:Case Family 2 G653002 Pt3 FEMALE phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_2 biolink:Case Fam. 3, III:2 MALE phenopacket.store:NKX6-2.PMID_31509304_F2_II_1 biolink:Case F2-II:1 MALE phenopacket.store:NKX6-2.PMID_28575651_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_2 biolink:Case Fam. 4, III:2 MALE phenopacket.store:NKX6-2.PMID_28575651_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:NKX6-2.PMID_31509304_F7_II_3 biolink:Case F7-II:3 FEMALE phenopacket.store:NKX6-2.PMID_29388673_Fam_2_II_1 biolink:Case Fam. 2, II:1 FEMALE phenopacket.store:NKX6-2.PMID_31509304_F8_II_1 biolink:Case F8-II:1 FEMALE phenopacket.store:NKX6-2.PMID_31509304_F6_II_6 biolink:Case F6-II:6 MALE phenopacket.store:NKX6-2.PMID_29388673_Fam_1_III_3 biolink:Case Fam. 1 III:3 MALE phenopacket.store:NKX6-2.PMID_28575651_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_2 biolink:Case Fam. 6, II:2 FEMALE phenopacket.store:NKX6-2.PMID_29388673_Fam_4_III_1 biolink:Case Fam. 4, III:1 FEMALE phenopacket.store:NKX6-2.PMID_31509304_F3_III_1 biolink:Case F3-III:1 FEMALE phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_1 biolink:Case Fam. 5, III:1 MALE phenopacket.store:NKX6-2.PMID_28969374_Family_2_G653001_Pt2 biolink:Case Family 2 G653001 Pt2 MALE phenopacket.store:NKX6-2.PMID_28575651_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:NKX6-2.PMID_29388673_Fam_3_III_1 biolink:Case Fam. 3, III:1 MALE phenopacket.store:NKX6-2.PMID_28969374_Family_1_1507278_Pt1 biolink:Case Family 1 1507278 Pt1 MALE phenopacket.store:NKX6-2.PMID_28575651_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0B_Pt5 biolink:Case Family 3 LD_1061.0B Pt5 MALE phenopacket.store:NKX6-2.PMID_28969374_Family_3_LD_1061_0A_Pt4 biolink:Case Family 3 LD_1061.0A Pt4 MALE phenopacket.store:NKX6-2.PMID_31509304_F4_III_1 biolink:Case F4-III:1 MALE phenopacket.store:NKX6-2.PMID_31509304_F4_III_3 biolink:Case F4-III:3 FEMALE phenopacket.store:NKX6-2.PMID_28575651_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:NKX6-2.PMID_31509304_F6_II_5 biolink:Case F6-II:5 MALE phenopacket.store:NKX6-2.PMID_28575651_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:NKX6-2.PMID_29388673_Fam_6_II_3 biolink:Case Fam. 6, II:3 FEMALE phenopacket.store:NKX6-2.PMID_31509304_F5_II_1 biolink:Case F5-II:1 FEMALE phenopacket.store:NKX6-2.PMID_31509304_F1_III_1 biolink:Case F1-III:1 FEMALE phenopacket.store:NKX6-2.PMID_29388673_Fam_5_III_2 biolink:Case Fam. 5, III:2 FEMALE phenopacket.store:NLRP3.PMID_27435956_case_report biolink:Case case report FEMALE phenopacket.store:NOTCH2.PMID_23566664_nan biolink:Case nan FEMALE phenopacket.store:NPC1.PMID_27900365_patient biolink:Case patient MALE phenopacket.store:NPHS1.PMID_28392951_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:NPHS1.PMID_28392951_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:NPHS1.PMID_28392951_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:NPR2.PMID_25959430_individual_IV_2_family_A biolink:Case individual IV-2, family A MALE phenopacket.store:NRAS.PMID_26467218_individual_5_Denayer_et_al__22 biolink:Case individual 5-Denayer et al. [22] MALE phenopacket.store:NRAS.PMID_26467218_individual_3_Denayer_et_al__22 biolink:Case individual 3-Denayer et al. [22] MALE phenopacket.store:NRAS.PMID_26467218_individual_7_Cirstea_et_al__14 biolink:Case individual 7-Cirstea et al. [14] MALE phenopacket.store:NRAS.PMID_26467218_individual_4_Denayer_et_al__22 biolink:Case individual 4-Denayer et al. [22] MALE phenopacket.store:NRAS.PMID_26467218_individual_8_Cirstea_et_al__14 biolink:Case individual 8-Cirstea et al. [14] FEMALE phenopacket.store:NRAS.PMID_26467218_individual_9_M_Cirstea_et_al__14 biolink:Case individual 9 M-Cirstea et al. [14] FEMALE phenopacket.store:NRAS.PMID_26467218_individual_9_Cirstea_et_al__14 biolink:Case individual 9-Cirstea et al. [14] MALE phenopacket.store:NRAS.PMID_26467218_individual_2_Runtuwene_et_al__21 biolink:Case individual 2-Runtuwene et al. [21] MALE phenopacket.store:NRAS.PMID_26467218_individual_1_De_Filippi_et_al__20 biolink:Case individual 1-De Filippi et al. [20] MALE phenopacket.store:NRAS.PMID_26467218_individual_6_Cirstea_et_al__14 biolink:Case individual 6-Cirstea et al. [14] MALE phenopacket.store:NRAS.PMID_26467218_individual_10_Kraoua_et_al__23 biolink:Case individual 10-Kraoua et al. [23] MALE phenopacket.store:NRAS.PMID_26467218_individual_12_F_Present_study biolink:Case individual 12 F-Present study MALE phenopacket.store:NRAS.PMID_26467218_individual_12_Present_study biolink:Case individual 12-Present study FEMALE phenopacket.store:NRAS.PMID_26467218_individual_11_Kraoua_et_al__23 biolink:Case individual 11-Kraoua et al. [23] FEMALE phenopacket.store:NRL.PMID_28106895_proband_II_2 biolink:Case proband II:2 FEMALE phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_4 biolink:Case individual M-314 VI:4 FEMALE phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_5 biolink:Case individual M-192 V:5 FEMALE phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_5 biolink:Case individual Khan II:5 FEMALE phenopacket.store:NSUN2.PMID_22541559_individual_M_314_V_1 biolink:Case individual M-314 V:1 FEMALE phenopacket.store:NSUN2.PMID_22541559_individual_M_314_VI_7 biolink:Case individual M-314 VI:7 MALE phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_4 biolink:Case individual Khan II:4 FEMALE phenopacket.store:NSUN2.PMID_22541559_individual_Khan_II_3 biolink:Case individual Khan II:3 FEMALE phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_3 biolink:Case individual M-192 V:3 MALE phenopacket.store:NSUN2.PMID_36420349_patient biolink:Case patient MALE phenopacket.store:NSUN2.PMID_22541559_individual_M_192_V_7 biolink:Case individual M-192 V:7 FEMALE phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_6 biolink:Case individual G-013 IV:6 MALE phenopacket.store:NSUN2.PMID_22541559_individual_G_013_IV_5 biolink:Case individual G-013 IV:5 FEMALE phenopacket.store:NSUN6.PMID_37226891_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:NSUN6.PMID_37226891_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:NSUN6.PMID_37226891_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:NT5C2.PMID_28327087_Patient_II_1 biolink:Case Patient II.1 MALE phenopacket.store:NT5C2.PMID_28327087_Patient_II_3 biolink:Case Patient II.3 MALE phenopacket.store:NUP54.PMID_36333996_Patient_of_family_C biolink:Case Patient of family C FEMALE phenopacket.store:NUP54.PMID_36333996_Patient_of_family_A biolink:Case Patient of family A FEMALE phenopacket.store:NUP54.PMID_36333996_Patient_of_family_B biolink:Case Patient of family B MALE phenopacket.store:OCA2.PMID_29050284_proband_II_5 biolink:Case proband II-5 MALE phenopacket.store:OFD1.PMID_19800048_III_9 biolink:Case III-9 MALE phenopacket.store:OFD1.PMID_11179005_Family_10 biolink:Case Family 10 FEMALE phenopacket.store:OFD1.PMID_11179005_Family_28 biolink:Case Family 28 FEMALE phenopacket.store:OFD1.PMID_27957444_Patient_2_III_III biolink:Case Patient 2 III-III FEMALE phenopacket.store:OFD1.PMID_22353940_cousin_V_9 biolink:Case cousin V-9 MALE phenopacket.store:OFD1.PMID_16783569_IV_3 biolink:Case IV: 3 MALE phenopacket.store:OFD1.PMID_11950863_Individual_I_2 biolink:Case Individual I.2 FEMALE phenopacket.store:OFD1.PMID_19800048_IV_2 biolink:Case IV-2 MALE phenopacket.store:OFD1.PMID_11179005_Family_6 biolink:Case Family 6 FEMALE phenopacket.store:OFD1.PMID_16783569_IV_11 biolink:Case IV: 11 MALE phenopacket.store:OFD1.PMID_22353940_cousin_V_3 biolink:Case cousin V-3 MALE phenopacket.store:OFD1.PMID_11950863_Individual_III biolink:Case Individual III FEMALE phenopacket.store:OFD1.PMID_11950863_Individual_II_2 biolink:Case Individual II.2 FEMALE phenopacket.store:OFD1.PMID_16783569_V_1 biolink:Case V: 1 MALE phenopacket.store:OFD1.PMID_19800048_IV_10 biolink:Case IV-10 MALE phenopacket.store:OFD1.PMID_27957444_Patient_1_III_VII biolink:Case Patient 1 III-VII FEMALE phenopacket.store:OFD1.PMID_19800048_IV_4 biolink:Case IV-4 MALE phenopacket.store:OFD1.PMID_11179005_Family_27 biolink:Case Family 27 FEMALE phenopacket.store:OFD1.PMID_19800048_IV_3 biolink:Case IV-3 MALE phenopacket.store:OFD1.PMID_11179005_Family_3 biolink:Case Family 3 FEMALE phenopacket.store:OFD1.PMID_11950863_Individual_I_3 biolink:Case Individual I.3 FEMALE phenopacket.store:OFD1.PMID_19800048_IV_5 biolink:Case IV-5 MALE phenopacket.store:OFD1.PMID_11950863_Individual_IV biolink:Case Individual IV FEMALE phenopacket.store:OFD1.PMID_11950863_Individual_II_1 biolink:Case Individual II.1 FEMALE phenopacket.store:OFD1.PMID_19800048_IV_6 biolink:Case IV-6 MALE phenopacket.store:OFD1.PMID_11950863_Individual_II_3 biolink:Case Individual II.3 FEMALE phenopacket.store:OFD1.PMID_32677760_case_report biolink:Case case report FEMALE phenopacket.store:OFD1.PMID_11179005_Family_1 biolink:Case Family 1 FEMALE phenopacket.store:OFD1.PMID_19800048_UW87 biolink:Case UW87 MALE phenopacket.store:OFD1.PMID_19800048_III_10 biolink:Case III-10 MALE phenopacket.store:OFD1.PMID_11179005_Family_4 biolink:Case Family 4 FEMALE phenopacket.store:OTUD6B.PMID_30364145_proband biolink:Case proband FEMALE phenopacket.store:OTUD7A.PMID_31997314_proband biolink:Case proband MALE phenopacket.store:OTUD7A.PMID_33381903_nan biolink:Case nan MALE phenopacket.store:PANK2.PMID_15911822_Patient_15 biolink:Case Patient 15 MALE phenopacket.store:PANK2.PMID_15911822_Patient_14 biolink:Case Patient 14 FEMALE phenopacket.store:PANK2.PMID_15911822_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:PANK2.PMID_15911822_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:PANK2.PMID_15911822_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:PANK2.PMID_15911822_Patient_11 biolink:Case Patient 11 MALE phenopacket.store:PANK2.PMID_15911822_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:PANK2.PMID_15911822_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:PANK2.PMID_15911822_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:PANK2.PMID_28821231_Family_I_patient_I biolink:Case Family I, patient I FEMALE phenopacket.store:PANK2.PMID_15911822_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:PANK2.PMID_15911822_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:PANK2.PMID_15911822_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:PANK2.PMID_15911822_Patient_13 biolink:Case Patient 13 FEMALE phenopacket.store:PANK2.PMID_15911822_Patient_12 biolink:Case Patient 12 MALE phenopacket.store:PARK7.PMID_27460976_proband biolink:Case proband FEMALE phenopacket.store:PAX3.PMID_7726174_propositus biolink:Case propositus MALE phenopacket.store:PAX3.PMID_12949970_proposita biolink:Case proposita FEMALE phenopacket.store:PAX4.PMID_36595822_nan biolink:Case nan MALE phenopacket.store:PCDH19.PMID_30451291_IV:3 biolink:Case IV:3 FEMALE phenopacket.store:PCDH19.PMID_30451291_V:1 biolink:Case V:1 FEMALE phenopacket.store:PCDH19.PMID_30451291_IV:5 biolink:Case IV:5 FEMALE phenopacket.store:PCDH19.PMID_30451291_IV:11 biolink:Case IV:11 FEMALE phenopacket.store:PCDH19.PMID_30451291_I:6 biolink:Case I:6 FEMALE phenopacket.store:PCDH19.PMID_30451291_IV:4 biolink:Case IV:4 FEMALE phenopacket.store:PCDH19.PMID_30451291_II:8 biolink:Case II:8 FEMALE phenopacket.store:PCYT1A.PMID_24889630_Proband_1 biolink:Case Proband 1 FEMALE phenopacket.store:PCYT1A.PMID_24889630_Proband_2 biolink:Case Proband 2 FEMALE phenopacket.store:PDCD1.PMID_34183838_patient biolink:Case patient MALE phenopacket.store:PI4K2A.PMID_30564627_Subject_II_9 biolink:Case Subject II-9 MALE phenopacket.store:PI4K2A.PMID_35880319_Family_1 biolink:Case Family 1 FEMALE phenopacket.store:PI4K2A.PMID_30564627_Subject_II_8 biolink:Case Subject II-8 MALE phenopacket.store:PI4K2A.PMID_35880319_Family_2 biolink:Case Family 2 FEMALE phenopacket.store:PIEZO2.PMID_27843126_A-III.6 biolink:Case A-III.6 FEMALE phenopacket.store:PIEZO2.PMID_27843126_C-II.2 biolink:Case C-II.2 MALE phenopacket.store:PIEZO2.PMID_27843126_B-III.1 biolink:Case B-III.1 MALE phenopacket.store:PIEZO2.PMID_27843126_D-II.2 biolink:Case D-II.2 MALE phenopacket.store:PIEZO2.PMID_27843126_B-II.7 biolink:Case B-II.7 MALE phenopacket.store:PIEZO2.PMID_27843126_B-III.4 biolink:Case B-III.4 FEMALE phenopacket.store:PIEZO2.PMID_27843126_A-III.1 biolink:Case A-III.1 MALE phenopacket.store:PIEZO2.PMID_27974811_individual biolink:Case individual MALE phenopacket.store:PIEZO2.PMID_27843126_A-III.5 biolink:Case A-III.5 MALE phenopacket.store:PIEZO2.PMID_27843126_C-I.7 biolink:Case C-I.7 FEMALE phenopacket.store:PIEZO2.PMID_27843126_C-II.3 biolink:Case C-II.3 FEMALE phenopacket.store:PIGA.PMID_24259288_III_9 biolink:Case III-9 MALE phenopacket.store:PIGA.PMID_25885527_II_2 biolink:Case II:2 MALE phenopacket.store:PIGA.PMID_24706016_individual_1 biolink:Case individual 1 MALE phenopacket.store:PIGA.PMID_29502866_Younger_twin biolink:Case Younger twin MALE phenopacket.store:PIGA.PMID_34875027_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:PIGA.PMID_24706016_individual_2 biolink:Case individual 2 MALE phenopacket.store:PIGA.PMID_24259288_Patient_III_10 biolink:Case Patient III-10 MALE phenopacket.store:PIGA.PMID_24357517_III_11_Family_B biolink:Case III-11/Family B MALE phenopacket.store:PIGA.PMID_24706016_individual_4 biolink:Case individual 4 MALE phenopacket.store:PIGA.PMID_24706016_individual_IV_4 biolink:Case individual IV-4 MALE phenopacket.store:PIGA.PMID_34875027_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:PIGA.PMID_24357517_III_7_Family_B biolink:Case III-7/Family B MALE phenopacket.store:PIGA.PMID_24259288_propositus_III_9 biolink:Case propositus III-9 MALE phenopacket.store:PIGA.PMID_22305531_IV_4 biolink:Case IV-4 MALE phenopacket.store:PIGA.PMID_34875027_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:PIGA.PMID_24259288_IV_3 biolink:Case IV-3 MALE phenopacket.store:PIGA.PMID_24259288_Patient_IV_3 biolink:Case Patient IV-3 MALE phenopacket.store:PIGA.PMID_24706016_individual_3 biolink:Case individual 3 MALE phenopacket.store:PIGA.PMID_22305531_IV_2 biolink:Case IV-2 MALE phenopacket.store:PIGA.PMID_24357517_IV_2_Family_B biolink:Case IV-2/Family B MALE phenopacket.store:PIGA.PMID_24706016_individual_5 biolink:Case individual 5 MALE phenopacket.store:PIGA.PMID_24706016_individual_IV_2 biolink:Case individual IV-2 MALE phenopacket.store:PIGA.PMID_29502866_Older_twin biolink:Case Older twin MALE phenopacket.store:PIGA.PMID_24357517_III_8_Family_B biolink:Case III-8/Family B MALE phenopacket.store:PIGA.PMID_24259288_III_10 biolink:Case III-10 MALE phenopacket.store:PIGA.PMID_24259184_III_1 biolink:Case III-1 MALE phenopacket.store:PIGA.PMID_24357517_III_13_Family_B biolink:Case III-13/Family B MALE phenopacket.store:PKHD1L1.PMID_38459354_Family_1_proband biolink:Case Family 1 proband FEMALE phenopacket.store:PKHD1L1.PMID_38459354_Family_2_proband biolink:Case Family 2 proband MALE phenopacket.store:PKHD1L1.PMID_38459354_Family_3_proband biolink:Case Family 3 proband MALE phenopacket.store:PKHD1L1.PMID_38459354_Family_4_proband biolink:Case Family 4 proband MALE phenopacket.store:PLAA.PMID_28413018_B-III-1 biolink:Case B-III-1 MALE phenopacket.store:PLAA.PMID_28413018_A-IV-7 biolink:Case A-IV-7 MALE phenopacket.store:PLAA.PMID_28007986_A(VI4) biolink:Case A(VI4) FEMALE phenopacket.store:PLAA.PMID_28413018_A-IV-10 biolink:Case A-IV-10 MALE phenopacket.store:PLAA.PMID_28007986_A(VI6) biolink:Case A(VI6) MALE phenopacket.store:PLAA.PMID_28007986_A(VI10) biolink:Case A(VI10) MALE phenopacket.store:PLAA.PMID_28413018_A-IV-6 biolink:Case A-IV-6 MALE phenopacket.store:PLAA.PMID_28007986_B(IV2) biolink:Case B(IV2) MALE phenopacket.store:PLAA.PMID_28007986_A(VI1) biolink:Case A(VI1) MALE phenopacket.store:PLAA.PMID_28007986_A(VI5) biolink:Case A(VI5) MALE phenopacket.store:PLAA.PMID_28413018_C-III-1 biolink:Case C-III-1 MALE phenopacket.store:PLAA.PMID_28413018_A-IV-1 biolink:Case A-IV-1 FEMALE phenopacket.store:PLAA.PMID_28413018_A-IV-8 biolink:Case A-IV-8 FEMALE phenopacket.store:PLAA.PMID_28007986_A(VI3) biolink:Case A(VI3) FEMALE phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_6 biolink:Case Family 4: patient 6 MALE phenopacket.store:PLAAT3.PMID_37919452_Family_4:_patient_7 biolink:Case Family 4: patient 7 MALE phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_1 biolink:Case Family 1: patient 1 FEMALE phenopacket.store:PLAAT3.PMID_37919452_Family_3:_patient_5 biolink:Case Family 3: patient 5 MALE phenopacket.store:PLAAT3.PMID_37919452_Family_2:_patient_4 biolink:Case Family 2: patient 4 FEMALE phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_2 biolink:Case Family 1: patient 2 FEMALE phenopacket.store:PLAAT3.PMID_37919452_Family_1:_patient_3 biolink:Case Family 1: patient 3 FEMALE phenopacket.store:PLCB4.PMID_35170830_patient_23 biolink:Case patient 23 FEMALE phenopacket.store:PLCB4.PMID_23913798_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:PLCB4.PMID_23913798_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:PLCB4.PMID_27007857_proband biolink:Case proband MALE phenopacket.store:PLCB4.PMID_23315542_case_8 biolink:Case case 8 MALE phenopacket.store:PMP22.PMID_29078790_proband biolink:Case proband FEMALE phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_1 biolink:Case IHG25353-individual-1 MALE phenopacket.store:PNPLA6.PMID_25480986_individual_C_1 biolink:Case individual C:1 MALE phenopacket.store:PNPLA6.PMID_30097146_patient biolink:Case patient FEMALE phenopacket.store:PNPLA6.PMID_24355708_IHG25357_individual_1 biolink:Case IHG25357-individual-1 MALE phenopacket.store:PNPLA6.PMID_24355708_IHG25353_individual_2 biolink:Case IHG25353-individual-2 MALE phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_1 biolink:Case ARCA-05-individual-1 FEMALE phenopacket.store:PNPLA6.PMID_25480986_individual_B_1 biolink:Case individual B:1 MALE phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_3 biolink:Case IHG25190-individual-3 FEMALE phenopacket.store:PNPLA6.PMID_25480986_individual_A_1 biolink:Case individual A:1 FEMALE phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_4 biolink:Case IHG25190-individual-4 FEMALE phenopacket.store:PNPLA6.PMID_29749493_proband biolink:Case proband MALE phenopacket.store:PNPLA6.PMID_25480986_individual_E_1 biolink:Case individual E:1 MALE phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_1 biolink:Case IHG25190-individual-1 FEMALE phenopacket.store:PNPLA6.PMID_25480986_individual_A_2 biolink:Case individual A:2 MALE phenopacket.store:PNPLA6.PMID_24355708_IHG25190_individual_2 biolink:Case IHG25190-individual-2 MALE phenopacket.store:PNPLA6.PMID_25480986_individual_D_1 biolink:Case individual D:1 MALE phenopacket.store:PNPLA6.PMID_24355708_ARCA_05_individual_2 biolink:Case ARCA-05-individual-2 FEMALE phenopacket.store:POGLUT1.PMID_27807076_Patient_II_5 biolink:Case Patient II.5 MALE phenopacket.store:POGLUT1.PMID_27807076_Patient_II_4 biolink:Case Patient II.4 FEMALE phenopacket.store:POGLUT1.PMID_27807076_Patient_II_1 biolink:Case Patient II.1 MALE phenopacket.store:POGLUT1.PMID_27807076_Patient_II_2 biolink:Case Patient II.2 FEMALE phenopacket.store:POGZ.PMID_31782611_PT19 biolink:Case PT19 MALE phenopacket.store:POGZ.PMID_34645992_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:POGZ.PMID_27148570_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:POGZ.PMID_26942287_UMCN6 biolink:Case UMCN6 MALE phenopacket.store:POGZ.PMID_31782611_PT25 biolink:Case PT25 MALE phenopacket.store:POGZ.PMID_31782611_PT17 biolink:Case PT17 MALE phenopacket.store:POGZ.PMID_31782611_PT20 biolink:Case PT20 MALE phenopacket.store:POGZ.PMID_31782611_PT2 biolink:Case PT2 MALE phenopacket.store:POGZ.PMID_35052493_individual_NL01 biolink:Case individual NL01 phenopacket.store:POGZ.PMID_26942287_EE6 biolink:Case EE6 FEMALE phenopacket.store:POGZ.PMID_33277917_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:POGZ.PMID_35052493_individual_D01 biolink:Case individual D01 MALE phenopacket.store:POGZ.PMID_33277917_Patient_11 biolink:Case Patient 11 FEMALE phenopacket.store:POGZ.PMID_26942287_EE4 biolink:Case EE4 MALE phenopacket.store:POGZ.PMID_26942287_UMCN1 biolink:Case UMCN1 FEMALE phenopacket.store:POGZ.PMID_26942287_EE1 biolink:Case EE1 MALE phenopacket.store:POGZ.PMID_33277917_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:POGZ.PMID_26942287_UMCN10 biolink:Case UMCN10 FEMALE phenopacket.store:POGZ.PMID_33277917_Patient_17 biolink:Case Patient 17 MALE phenopacket.store:POGZ.PMID_32345733_index biolink:Case index FEMALE phenopacket.store:POGZ.PMID_33277917_Patient_15 biolink:Case Patient 15 MALE phenopacket.store:POGZ.PMID_34645992_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:POGZ.PMID_26942287_FR6 biolink:Case FR6 MALE phenopacket.store:POGZ.PMID_30879264_case_report biolink:Case case report MALE phenopacket.store:POGZ.PMID_31136090_case_report biolink:Case case report FEMALE phenopacket.store:POGZ.PMID_34215294_case_report biolink:Case case report FEMALE phenopacket.store:POGZ.PMID_31782611_PT9 biolink:Case PT9 FEMALE phenopacket.store:POGZ.PMID_31782611_PT13 biolink:Case PT13 FEMALE phenopacket.store:POGZ.PMID_34645992_Individual_9 biolink:Case Individual 9 FEMALE phenopacket.store:POGZ.PMID_27148570_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:POGZ.PMID_35052493_individual_G01 biolink:Case individual G01 FEMALE phenopacket.store:POGZ.PMID_33277917_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:POGZ.PMID_31782611_PT5 biolink:Case PT5 MALE phenopacket.store:POGZ.PMID_26739615_individual_5 biolink:Case individual 5 FEMALE phenopacket.store:POGZ.PMID_34645992_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:POGZ.PMID_31782611_PT21 biolink:Case PT21 MALE phenopacket.store:POGZ.PMID_26942287_FR2 biolink:Case FR2 FEMALE phenopacket.store:POGZ.PMID_27148570_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:POGZ.PMID_26942287_EE5 biolink:Case EE5 FEMALE phenopacket.store:POGZ.PMID_34645992_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:POGZ.PMID_33277917_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:POGZ.PMID_26942287_FR4 biolink:Case FR4 FEMALE phenopacket.store:POGZ.PMID_26739615_individual_2 biolink:Case individual 2 FEMALE phenopacket.store:POGZ.PMID_35052493_individual_US02 biolink:Case individual US02 FEMALE phenopacket.store:POGZ.PMID_26942287_FR3 biolink:Case FR3 FEMALE phenopacket.store:POGZ.PMID_26763879_patient biolink:Case patient FEMALE phenopacket.store:POGZ.PMID_34645992_Individual_11 biolink:Case Individual 11 MALE phenopacket.store:POGZ.PMID_33277917_Patient_14 biolink:Case Patient 14 FEMALE phenopacket.store:POGZ.PMID_33277917_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:POGZ.PMID_26942287_UMCN3 biolink:Case UMCN3 MALE phenopacket.store:POGZ.PMID_27148570_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:POGZ.PMID_34206215_case_report biolink:Case case report FEMALE phenopacket.store:POGZ.PMID_26942287_UMCN4 biolink:Case UMCN4 MALE phenopacket.store:POGZ.PMID_31782611_PT10 biolink:Case PT10 MALE phenopacket.store:POGZ.PMID_35052493_individual_W01 biolink:Case individual W01 FEMALE phenopacket.store:POGZ.PMID_26739615_individual_1 biolink:Case individual 1 FEMALE phenopacket.store:POGZ.PMID_35052493_individual_L01 biolink:Case individual L01 MALE phenopacket.store:POGZ.PMID_26739615_individual_4 biolink:Case individual 4 FEMALE phenopacket.store:POGZ.PMID_27824329_M19813 biolink:Case M19813 FEMALE phenopacket.store:POGZ.PMID_31782611_PT23 biolink:Case PT23 MALE phenopacket.store:POGZ.PMID_35052493_individual_R01 biolink:Case individual R01 MALE phenopacket.store:POGZ.PMID_32359026_patient biolink:Case patient MALE phenopacket.store:POGZ.PMID_33377604_case biolink:Case case MALE phenopacket.store:POGZ.PMID_33277917_Patient_16 biolink:Case Patient 16 FEMALE phenopacket.store:POGZ.PMID_35052493_individual_R02 biolink:Case individual R02 MALE phenopacket.store:POGZ.PMID_26942287_UMCN5 biolink:Case UMCN5 MALE phenopacket.store:POGZ.PMID_33909211_case biolink:Case case FEMALE phenopacket.store:POGZ.PMID_33277917_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:POGZ.PMID_34133408_case biolink:Case case MALE phenopacket.store:POGZ.PMID_26942287_UMCN9 biolink:Case UMCN9 MALE phenopacket.store:POGZ.PMID_35052493_individual_G02 biolink:Case individual G02 MALE phenopacket.store:POGZ.PMID_33277917_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:POGZ.PMID_33277917_Patient_18 biolink:Case Patient 18 FEMALE phenopacket.store:POGZ.PMID_34645992_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:POGZ.PMID_31782611_PT15 biolink:Case PT15 MALE phenopacket.store:POGZ.PMID_31782611_PT8 biolink:Case PT8 MALE phenopacket.store:POGZ.PMID_26942287_EE2 biolink:Case EE2 MALE phenopacket.store:POGZ.PMID_27148570_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:POGZ.PMID_34645992_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:POGZ.PMID_34645992_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:POGZ.PMID_31347273_individual biolink:Case individual MALE phenopacket.store:POGZ.PMID_31782611_PT11 biolink:Case PT11 MALE phenopacket.store:POGZ.PMID_34645992_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:POGZ.PMID_26942287_UMCN7 biolink:Case UMCN7 FEMALE phenopacket.store:POGZ.PMID_26942287_UMCN2 biolink:Case UMCN2 MALE phenopacket.store:POGZ.PMID_31782611_PT7 biolink:Case PT7 FEMALE phenopacket.store:POGZ.PMID_31782611_PT14 biolink:Case PT14 MALE phenopacket.store:POGZ.PMID_31782611_PT4 biolink:Case PT4 FEMALE phenopacket.store:POGZ.PMID_33277917_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:POGZ.PMID_33277917_Patient_13 biolink:Case Patient 13 FEMALE phenopacket.store:POGZ.PMID_28480548_girl biolink:Case girl FEMALE phenopacket.store:POGZ.PMID_25694107_case_report biolink:Case case report MALE phenopacket.store:POGZ.PMID_33277917_Patient_12 biolink:Case Patient 12 MALE phenopacket.store:POGZ.PMID_27148570_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:POGZ.PMID_31782611_PT22 biolink:Case PT22 FEMALE phenopacket.store:POGZ.PMID_33277917_Patient_19 biolink:Case Patient 19 FEMALE phenopacket.store:POGZ.PMID_35052493_individual_US01 biolink:Case individual US01 MALE phenopacket.store:POGZ.PMID_33277917_Patient_10 biolink:Case Patient 10 MALE phenopacket.store:POGZ.PMID_34645992_Individual_8 biolink:Case Individual 8 FEMALE phenopacket.store:POGZ.PMID_31782611_PT18 biolink:Case PT18 MALE phenopacket.store:POGZ.PMID_26739615_individual_3 biolink:Case individual 3 MALE phenopacket.store:POGZ.PMID_26942287_FR1 biolink:Case FR1 MALE phenopacket.store:POGZ.PMID_35052493_individual_US03 biolink:Case individual US03 MALE phenopacket.store:POGZ.PMID_34645992_Individual_12 biolink:Case Individual 12 FEMALE phenopacket.store:POGZ.PMID_27148570_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:POGZ.PMID_31782611_PT12 biolink:Case PT12 FEMALE phenopacket.store:POGZ.PMID_35052493_individual_S01 biolink:Case individual S01 FEMALE phenopacket.store:POGZ.PMID_26942287_EE7 biolink:Case EE7 MALE phenopacket.store:POGZ.PMID_26942287_EE9 biolink:Case EE9 MALE phenopacket.store:POGZ.PMID_33277917_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:POGZ.PMID_31782611_PT1 biolink:Case PT1 FEMALE phenopacket.store:POGZ.PMID_26942287_EE8 biolink:Case EE8 FEMALE phenopacket.store:POGZ.PMID_26942287_UMCN8 biolink:Case UMCN8 MALE phenopacket.store:POGZ.PMID_26942287_EE3 biolink:Case EE3 MALE phenopacket.store:POGZ.PMID_26942287_FR5 biolink:Case FR5 MALE phenopacket.store:POGZ.PMID_35052493_individual_L02 biolink:Case individual L02 FEMALE phenopacket.store:POGZ.PMID_31782611_PT6 biolink:Case PT6 MALE phenopacket.store:POLD1.PMID_31449058_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:POLD1.PMID_31629014_Patient_P2 biolink:Case Patient P2 FEMALE phenopacket.store:POLD1.PMID_31629014_Patient_P3 biolink:Case Patient P3 FEMALE phenopacket.store:POLD1.PMID_31629014_Patient_P1 biolink:Case Patient P1 FEMALE phenopacket.store:POLD3.PMID_37030525_proband_IV_6 biolink:Case proband IV-6 MALE phenopacket.store:POLD3.PMID_38099988_patient biolink:Case patient MALE phenopacket.store:POLR1A.PMID_28051070_Brother_2_204 biolink:Case Brother 2 (204) MALE phenopacket.store:POLR1A.PMID_37075751_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:POLR1A.PMID_37075751_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:POLR1A.PMID_37075751_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:POLR1A.PMID_37075751_Individual_16 biolink:Case Individual 16 MALE phenopacket.store:POLR1A.PMID_37075751_Individual_3 biolink:Case Individual 3 FEMALE phenopacket.store:POLR1A.PMID_37075751_Individual_13 biolink:Case Individual 13 MALE phenopacket.store:POLR1A.PMID_36917474_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:POLR1A.PMID_37075751_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:POLR1A.PMID_37075751_Individual_17 biolink:Case Individual 17 FEMALE phenopacket.store:POLR1A.PMID_37075751_Individual_18 biolink:Case Individual 18 FEMALE phenopacket.store:POLR1A.PMID_36917474_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:POLR1A.PMID_37075751_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:POLR1A.PMID_37075751_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:POLR1A.PMID_37075751_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:POLR1A.PMID_28051070_Brother_1_203 biolink:Case Brother 1 (203) MALE phenopacket.store:POLR1A.PMID_37075751_Individual_12 biolink:Case Individual 12 MALE phenopacket.store:POLR1A.PMID_37075751_Individual_14 biolink:Case Individual 14 MALE phenopacket.store:POLR1A.PMID_37075751_Individual_11 biolink:Case Individual 11 MALE phenopacket.store:POLR1A.PMID_37075751_Individual_10 biolink:Case Individual 10 FEMALE phenopacket.store:POLR1A.PMID_37075751_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:POLR1A.PMID_37075751_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:POLR1D.PMID_24603435_Family_1_affected_individual biolink:Case Family 1 affected individual FEMALE phenopacket.store:POLR1D.PMID_21131976_EsM42160 biolink:Case EsM42160 MALE phenopacket.store:POLR1D.PMID_21131976_EsM5513 biolink:Case EsM5513 phenopacket.store:POLR1D.PMID_21131976_EsM5850 biolink:Case EsM5850 MALE phenopacket.store:POLR1D.PMID_21131976_Lei1 biolink:Case Lei1 MALE phenopacket.store:POLR1D.PMID_21131976_EsM10408 biolink:Case EsM10408 FEMALE phenopacket.store:POLR1D.PMID_21131976_EsM6227 biolink:Case EsM6227 FEMALE phenopacket.store:POLR1D.PMID_21131976_EsM6195 biolink:Case EsM6195 MALE phenopacket.store:POLR1D.PMID_21131976_EsM3422 biolink:Case EsM3422 MALE phenopacket.store:POLR1D.PMID_21131976_Man33 biolink:Case Man33 FEMALE phenopacket.store:POMGNT1.PMID_26908613_SRF1630 biolink:Case SRF1630 MALE phenopacket.store:POMGNT1.PMID_26908613_MOGL2064 biolink:Case MOGL2064 FEMALE phenopacket.store:POMGNT1.PMID_26908613_SRF1105 biolink:Case SRF1105 FEMALE phenopacket.store:POMGNT1.PMID_26908613_MOGL2063 biolink:Case MOGL2063 MALE phenopacket.store:POT1.PMID_35420632_Patient_4_IV-4 biolink:Case Patient 4 IV-4 MALE phenopacket.store:POT1.PMID_35420632_Patient_3_III-3 biolink:Case Patient 3 III-3 MALE phenopacket.store:POT1.PMID_35420632_patient_1_V-1 biolink:Case patient 1 V-1 MALE phenopacket.store:POT1.PMID_35420632_patient21_IV-2 biolink:Case patient21 IV-2 MALE phenopacket.store:PPIB.PMID_19781681_Proband_P1_2 biolink:Case Proband P1-2 phenopacket.store:PPIB.PMID_19781681_Proband_P2_2 biolink:Case Proband P2-2 phenopacket.store:PPIB.PMID_20089953_Patient_III_4 biolink:Case Patient III-4 FEMALE phenopacket.store:PPIB.PMID_19781681_Proband_P2_1 biolink:Case Proband P2-1 phenopacket.store:PPIB.PMID_20089953_Patient_III_1 biolink:Case Patient III-1 MALE phenopacket.store:PPIB.PMID_19781681_Proband_P1_1 biolink:Case Proband P1-1 phenopacket.store:PPP1R13L.PMID_28069640_Patient_Y.M_(VI4) biolink:Case Patient Y.M (VI4) FEMALE phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.2 biolink:Case Family 5 II.2 FEMALE phenopacket.store:PPP1R13L.PMID_28069640_Patient_A.J_(VII1) biolink:Case Patient A.J (VII1) MALE phenopacket.store:PPP1R13L.PMID_35924320_proband biolink:Case proband FEMALE phenopacket.store:PPP1R13L.PMID_28069640_R_(VI12)_older_sister biolink:Case R (VI12) older sister FEMALE phenopacket.store:PPP1R13L.PMID_28069640_R_(VI13) biolink:Case R (VI13) FEMALE phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.2 biolink:Case Family 2 II.2 MALE phenopacket.store:PPP1R13L.PMID_32666529_Family_2_II.1 biolink:Case Family 2 II.1 MALE phenopacket.store:PPP1R13L.PMID_32666529_Family_I_II.1 biolink:Case Family I II.1 MALE phenopacket.store:PPP1R13L.PMID_32666529_Family_4_II.1 biolink:Case Family 4 II.1 MALE phenopacket.store:PPP1R13L.PMID_28069640_Patient_M.A_(VI10) biolink:Case Patient M.A (VI10) FEMALE phenopacket.store:PPP1R13L.PMID_35933355_two-year-old_ACM_proband biolink:Case two-year-old ACM proband MALE phenopacket.store:PPP1R13L.PMID_32666529_Family_3_II.1 biolink:Case Family 3 II.1 MALE phenopacket.store:PPP1R13L.PMID_32666529_Family_5_II.1 biolink:Case Family 5 II.1 FEMALE phenopacket.store:PPP2R1A.PMID_37761890_42  biolink:Case 42  MALE phenopacket.store:PPP2R1A.PMID_37761890_49  biolink:Case 49  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_1  biolink:Case 1  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_47  biolink:Case 47  phenopacket.store:PPP2R1A.PMID_37761890_25  biolink:Case 25  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_18  biolink:Case 18  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_53  biolink:Case 53  MALE phenopacket.store:PPP2R1A.PMID_37761890_2  biolink:Case 2  MALE phenopacket.store:PPP2R1A.PMID_37761890_36  biolink:Case 36  MALE phenopacket.store:PPP2R1A.PMID_37761890_45  biolink:Case 45  phenopacket.store:PPP2R1A.PMID_37761890_21  biolink:Case 21  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_17  biolink:Case 17  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_50  biolink:Case 50  MALE phenopacket.store:PPP2R1A.PMID_37761890_12  biolink:Case 12  MALE phenopacket.store:PPP2R1A.PMID_37761890_24  biolink:Case 24  MALE phenopacket.store:PPP2R1A.PMID_37761890_55  biolink:Case 55  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_27  biolink:Case 27  MALE phenopacket.store:PPP2R1A.PMID_37761890_4  biolink:Case 4  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_59  biolink:Case 59  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_20  biolink:Case 20  MALE phenopacket.store:PPP2R1A.PMID_37761890_60  biolink:Case 60  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_57  biolink:Case 57  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_28  biolink:Case 28  MALE phenopacket.store:PPP2R1A.PMID_37761890_11  biolink:Case 11  MALE phenopacket.store:PPP2R1A.PMID_37761890_8  biolink:Case 8  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_51  biolink:Case 51  MALE phenopacket.store:PPP2R1A.PMID_37761890_6  biolink:Case 6  MALE phenopacket.store:PPP2R1A.PMID_37761890_39  biolink:Case 39  MALE phenopacket.store:PPP2R1A.PMID_37761890_58  biolink:Case 58  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_23  biolink:Case 23  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_52  biolink:Case 52  MALE phenopacket.store:PPP2R1A.PMID_37761890_43  biolink:Case 43  MALE phenopacket.store:PPP2R1A.PMID_37761890_54  biolink:Case 54  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_13  biolink:Case 13  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_56  biolink:Case 56  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_46  biolink:Case 46  phenopacket.store:PPP2R1A.PMID_37761890_33  biolink:Case 33  MALE phenopacket.store:PPP2R1A.PMID_37761890_10  biolink:Case 10  MALE phenopacket.store:PPP2R1A.PMID_37761890_15  biolink:Case 15  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_22  biolink:Case 22  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_14  biolink:Case 14  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_19  biolink:Case 19  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_38  biolink:Case 38  MALE phenopacket.store:PPP2R1A.PMID_37761890_48  biolink:Case 48  phenopacket.store:PPP2R1A.PMID_37761890_16  biolink:Case 16  MALE phenopacket.store:PPP2R1A.PMID_37761890_41  biolink:Case 41  MALE phenopacket.store:PPP2R1A.PMID_37761890_5  biolink:Case 5  MALE phenopacket.store:PPP2R1A.PMID_37761890_32  biolink:Case 32  MALE phenopacket.store:PPP2R1A.PMID_37761890_7  biolink:Case 7  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_31  biolink:Case 31  MALE phenopacket.store:PPP2R1A.PMID_37761890_40  biolink:Case 40  MALE phenopacket.store:PPP2R1A.PMID_37761890_29  biolink:Case 29  MALE phenopacket.store:PPP2R1A.PMID_37761890_30  biolink:Case 30  MALE phenopacket.store:PPP2R1A.PMID_37761890_34  biolink:Case 34  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_37  biolink:Case 37  MALE phenopacket.store:PPP2R1A.PMID_37761890_35  biolink:Case 35  FEMALE phenopacket.store:PPP2R1A.PMID_37761890_9  biolink:Case 9  MALE phenopacket.store:PPP2R1A.PMID_37761890_26  biolink:Case 26  MALE phenopacket.store:PPP2R1A.PMID_37761890_3  biolink:Case 3  MALE phenopacket.store:PPP2R1A.PMID_37761890_44  biolink:Case 44  MALE phenopacket.store:PRDM10.PMID_36440963_IV-1 biolink:Case IV-1 MALE phenopacket.store:PRDM10.PMID_36440963_IV-2 biolink:Case IV-2 FEMALE phenopacket.store:PRDM10.PMID_36440963_IV-4 biolink:Case IV-4 FEMALE phenopacket.store:PRDM10.PMID_36440963_III-2 biolink:Case III-2 MALE phenopacket.store:PRDM10.PMID_36440963_III-4 biolink:Case III-4 FEMALE phenopacket.store:PRDM10.PMID_36440963_III-3 biolink:Case III-3 MALE phenopacket.store:PRDM10.PMID_36440963_IV-3 biolink:Case IV-3 MALE phenopacket.store:PREPL.PMID_29483676_proband biolink:Case proband FEMALE phenopacket.store:PRF1.PMID_12229880_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:PRF1.PMID_12229880_Case_1 biolink:Case Case 1 MALE phenopacket.store:PRF1.PMID_28468610_8_year_old_boy biolink:Case 8-year-old boy MALE phenopacket.store:PRPF3.PMID_18412284_Patient_III_8 biolink:Case Patient III-8 FEMALE phenopacket.store:PRPF3.PMID_18412284_Patient_II_6 biolink:Case Patient II-6 FEMALE phenopacket.store:PRPF31.PMID_30099644_V:9 biolink:Case V:9 FEMALE phenopacket.store:PRPF31.PMID_30099644_IV:3 biolink:Case IV:3 MALE phenopacket.store:PRPF31.PMID_30099644_III:7 biolink:Case III:7 MALE phenopacket.store:PRPF31.PMID_30099644_IV:19 biolink:Case IV:19 MALE phenopacket.store:PRPF31.PMID_30099644_III:9 biolink:Case III:9 MALE phenopacket.store:PRPF31.PMID_30099644_IV:11 biolink:Case IV:11 FEMALE phenopacket.store:PRPF31.PMID_30099644_III:3 biolink:Case III:3 FEMALE phenopacket.store:PRPF31.PMID_30099644_IV:_7 biolink:Case IV: 7 FEMALE phenopacket.store:PRPF31.PMID_30099644_IV:12 biolink:Case IV:12 MALE phenopacket.store:PRTHD1.PMID_27134041_PD_102_2 biolink:Case PD-102-2 MALE phenopacket.store:PRTHD1.PMID_30398675_Proband_III_2 biolink:Case Proband III-2 FEMALE phenopacket.store:PRTHD1.PMID_27753167_proband_II_I biolink:Case proband II-I MALE phenopacket.store:PRTHD1.PMID_30398675_half_aunt_II_3 biolink:Case half aunt II-3 FEMALE phenopacket.store:PRTHD1.PMID_30398675_Proband_III_1 biolink:Case Proband III-1 FEMALE phenopacket.store:PRTHD1.PMID_27753167_proband_II_2 biolink:Case proband II-2 MALE phenopacket.store:PRTHD1.PMID_27134041_PD_102_1 biolink:Case PD-102-1 MALE phenopacket.store:PSEN2.PMID_30104866_Patient biolink:Case Patient FEMALE phenopacket.store:PSEN2.PMID_12925374_III_1 biolink:Case III-1 phenopacket.store:PSEN2.PMID_12925374_Proband_III_3 biolink:Case Proband III-3 phenopacket.store:PSMB10.PMID_38503300_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:PSMB10.PMID_38503300_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:PSMB10.PMID_38503300_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:PSMB10.PMID_38503300_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:PSMB10.PMID_38503300_Individual_6 biolink:Case Individual 6 MALE phenopacket.store:PSMB10.PMID_38503300_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:PSMB9.PMID_34819510_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:PSMB9.PMID_34819510_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:PSMB9.PMID_33727065_boy biolink:Case boy MALE phenopacket.store:PSMD12.PMID_28132691_Subject_3 biolink:Case Subject 3 MALE phenopacket.store:PSMD12.PMID_28132691_Subject_2 biolink:Case Subject 2 MALE phenopacket.store:PSMD12.PMID_28132691_Subject_1 biolink:Case Subject 1 MALE phenopacket.store:PSMD12.PMID_28132691_Subject_4 biolink:Case Subject 4 MALE phenopacket.store:PTPN11.PMID_12161596_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:PTPN11.PMID_28074573_GB3 biolink:Case GB3 MALE phenopacket.store:PTPN11.PMID_32765928_Case_3 biolink:Case Case 3 MALE phenopacket.store:PTPN11.PMID_19768645_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:PTPN11.PMID_21533187_family_E biolink:Case family E phenopacket.store:PTPN11.PMID_33898683_43-year-old_man biolink:Case 43-year-old man MALE phenopacket.store:PTPN11.PMID_21677813_11-month-old_African_male_infant biolink:Case 11-month-old African male infant MALE phenopacket.store:PTPN11.PMID_22822385_17-year-old_male biolink:Case 17-year-old male MALE phenopacket.store:PTPN11.PMID_28074573_MA2 biolink:Case MA2 FEMALE phenopacket.store:PTPN11.PMID_21533187_family_I biolink:Case family I phenopacket.store:PTPN11.PMID_17661820_2 biolink:Case 2 FEMALE phenopacket.store:PTPN11.PMID_21533187_family_H biolink:Case family H phenopacket.store:PTPN11.PMID_28074573_KK1 biolink:Case KK1 FEMALE phenopacket.store:PTPN11.PMID_21533187_family_B biolink:Case family B phenopacket.store:PTPN11.PMID_12058348_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:PTPN11.PMID_27484170_A_5_year-old_male_patient biolink:Case A 5 year-old male patient MALE phenopacket.store:PTPN11.PMID_34552798_8-year-old_female_patient biolink:Case 8-year-old female patient FEMALE phenopacket.store:PTPN11.PMID_17661820_7 biolink:Case 7 MALE phenopacket.store:PTPN11.PMID_28074573_AS1 biolink:Case AS1 MALE phenopacket.store:PTPN11.PMID_28074573_HC5.1 biolink:Case HC5.1 FEMALE phenopacket.store:PTPN11.PMID_12058348_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:PTPN11.PMID_17661820_4 biolink:Case 4 FEMALE phenopacket.store:PTPN11.PMID_28074573_HC2 biolink:Case HC2 MALE phenopacket.store:PTPN11.PMID_28074573_HC1 biolink:Case HC1 MALE phenopacket.store:PTPN11.PMID_19768645_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:PTPN11.PMID_28074573_CR1 biolink:Case CR1 FEMALE phenopacket.store:PTPN11.PMID_17661820_3 biolink:Case 3 MALE phenopacket.store:PTPN11.PMID_28074573_HC6 biolink:Case HC6 FEMALE phenopacket.store:PTPN11.PMID_12058348_Patient_8 biolink:Case Patient 8 FEMALE phenopacket.store:PTPN11.PMID_26377839_51-year-old_Hungarian_male_patient biolink:Case 51-year-old Hungarian male patient MALE phenopacket.store:PTPN11.PMID_37056170_Proband_4 biolink:Case Proband 4 MALE phenopacket.store:PTPN11.PMID_21533187_family_G biolink:Case family G phenopacket.store:PTPN11.PMID_21533187_family_C biolink:Case family C phenopacket.store:PTPN11.PMID_17661820_5 biolink:Case 5 FEMALE phenopacket.store:PTPN11.PMID_12058348_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:PTPN11.PMID_28074573_GC1 biolink:Case GC1 MALE phenopacket.store:PTPN11.PMID_28074573_GB4 biolink:Case GB4 FEMALE phenopacket.store:PTPN11.PMID_28074573_GB1 biolink:Case GB1 FEMALE phenopacket.store:PTPN11.PMID_21747628_16_year-old_male biolink:Case 16 year-old male MALE phenopacket.store:PTPN11.PMID_12161596_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:PTPN11.PMID_12161596_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:PTPN11.PMID_28074573_MA1 biolink:Case MA1 MALE phenopacket.store:PTPN11.PMID_20577567_Family_2_III-4 biolink:Case Family 2 III-4 MALE phenopacket.store:PTPN11.PMID_20577567_Family_1_III-1 biolink:Case Family 1 III-1 FEMALE phenopacket.store:PTPN11.PMID_37260585_5-year-old_girl biolink:Case 5-year-old girl FEMALE phenopacket.store:PTPN11.PMID_17661820_1 biolink:Case 1 MALE phenopacket.store:PTPN11.PMID_28074573_GB2 biolink:Case GB2 FEMALE phenopacket.store:PTPN11.PMID_28074573_58760 biolink:Case 58760 MALE phenopacket.store:PTPN11.PMID_12058348_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:PTPN11.PMID_19864201_Case_1_(Twin_A) biolink:Case Case 1 (Twin A) MALE phenopacket.store:PTPN11.PMID_28074573_ADL1 biolink:Case ADL1 MALE phenopacket.store:PTPN11.PMID_37056170_Proband_3 biolink:Case Proband 3 FEMALE phenopacket.store:PTPN11.PMID_17661820_6 biolink:Case 6 MALE phenopacket.store:PTPN11.PMID_36544606_male_infant biolink:Case male infant MALE phenopacket.store:PTPN11.PMID_21533187_family_O biolink:Case family O phenopacket.store:PTPN11.PMID_19864201_Case_2_(Twin_B) biolink:Case Case 2 (Twin B) MALE phenopacket.store:PTPN11.PMID_28074573_HC3 biolink:Case HC3 FEMALE phenopacket.store:PTPN11.PMID_21533187_family_F biolink:Case family F phenopacket.store:PTPN11.PMID_21533187_family_A biolink:Case family A phenopacket.store:PTPN11.PMID_21533187_family_D biolink:Case family D phenopacket.store:PTPN11.PMID_28074573_HC5 biolink:Case HC5 MALE phenopacket.store:PTPN11.PMID_19864201_Case_4 biolink:Case Case 4 MALE phenopacket.store:PTPN11.PMID_12058348_Patient_11 biolink:Case Patient 11 FEMALE phenopacket.store:PTPN11.PMID_32765928_Case_2 biolink:Case Case 2 MALE phenopacket.store:PTPN11.PMID_12058348_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:PTPN11.PMID_12058348_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:PTPN11.PMID_28074573_ST1 biolink:Case ST1 FEMALE phenopacket.store:PTPN11.PMID_32765928_Case_1 biolink:Case Case 1 MALE phenopacket.store:PTPN11.PMID_19864201_Case_3 biolink:Case Case 3 FEMALE phenopacket.store:PTPN11.PMID_12058348_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:PUM1.PMID_29474920_Subject_11 biolink:Case Subject 11 FEMALE phenopacket.store:PUM1.PMID_35386260_proband biolink:Case proband FEMALE phenopacket.store:PUM1.PMID_31859446_first_case biolink:Case first case MALE phenopacket.store:PUM1.PMID_30903679_proband biolink:Case proband MALE phenopacket.store:PUM1.PMID_31859446_second_case biolink:Case second case MALE phenopacket.store:PYCR1.PMID_21487760_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:PYCR1.PMID_21487760_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:PYCR1.PMID_21487760_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:PYCR1.PMID_21487760_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:PYCR1.PMID_21487760_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:PYCR1.PMID_21487760_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:PYGL.PMID_28984260_child biolink:Case child FEMALE phenopacket.store:RAB34.PMID_37384395_F2_1 biolink:Case F2.1 MALE phenopacket.store:RAB34.PMID_37384395_F3 biolink:Case F3 MALE phenopacket.store:RAB34.PMID_37619988_nan biolink:Case nan phenopacket.store:RAB34.PMID_37384395_F2_2 biolink:Case F2.2 MALE phenopacket.store:RAB34.PMID_37384395_F1 biolink:Case F1 MALE phenopacket.store:RAI1.PMID_20932317_SMS335 biolink:Case SMS335 FEMALE phenopacket.store:RAI1.PMID_20932317_SMS324 biolink:Case SMS324 MALE phenopacket.store:RAP1B.PMID_35451551_proband biolink:Case proband MALE phenopacket.store:RAP1B.PMID_37850357_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:RAP1B.PMID_37850357_Case_2 biolink:Case Case 2 MALE phenopacket.store:RAP1B.PMID_32627184_Case_2 biolink:Case Case 2 MALE phenopacket.store:RAP1B.PMID_32627184_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:RAP1GDS1.PMID_33875846_patient_22 biolink:Case patient 22 phenopacket.store:RAP1GDS1.PMID_33875846_patient_23 biolink:Case patient 23 phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-10 biolink:Case Family 1 IV-10 MALE phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-2 biolink:Case Family 2 IV-2 MALE phenopacket.store:RAP1GDS1.PMID_32431071_Family_1_IV-9 biolink:Case Family 1 IV-9 MALE phenopacket.store:RAP1GDS1.PMID_32431071_Family_2_IV-4 biolink:Case Family 2 IV-4 MALE phenopacket.store:RECQL2.PMID_30891318_case biolink:Case case MALE phenopacket.store:RECQL2.PMID_30568144_Case_Report biolink:Case Case Report MALE phenopacket.store:RERE.PMID_29330883_Subject_4 biolink:Case Subject 4 FEMALE phenopacket.store:RERE.PMID_27087320_Subject_9 biolink:Case Subject 9 MALE phenopacket.store:RERE.PMID_27087320_Subject_6 biolink:Case Subject 6 FEMALE phenopacket.store:RERE.PMID_27087320_Subject_1 biolink:Case Subject 1 MALE phenopacket.store:RERE.PMID_29330883_Subject_8 biolink:Case Subject 8 FEMALE phenopacket.store:RERE.PMID_27087320_Subject_10 biolink:Case Subject 10 FEMALE phenopacket.store:RERE.PMID_29330883_Subject_2 biolink:Case Subject 2 MALE phenopacket.store:RERE.PMID_36053530_Case_2 biolink:Case Case 2 MALE phenopacket.store:RERE.PMID_27087320_Subject_7 biolink:Case Subject 7 MALE phenopacket.store:RERE.PMID_29330883_Subject_6 biolink:Case Subject 6 MALE phenopacket.store:RERE.PMID_29330883_Subject_1 biolink:Case Subject 1 MALE phenopacket.store:RERE.PMID_27087320_Subject_3 biolink:Case Subject 3 MALE phenopacket.store:RERE.PMID_29330883_Subject_9 biolink:Case Subject 9 FEMALE phenopacket.store:RERE.PMID_27087320_Subject_5 biolink:Case Subject 5 MALE phenopacket.store:RERE.PMID_36053530_Case_3 biolink:Case Case 3 FEMALE phenopacket.store:RERE.PMID_29330883_Subject_7 biolink:Case Subject 7 MALE phenopacket.store:RERE.PMID_27087320_Subject_2 biolink:Case Subject 2 MALE phenopacket.store:RERE.PMID_29330883_Subject_5 biolink:Case Subject 5 FEMALE phenopacket.store:RERE.PMID_36053530_Case_1 biolink:Case Case 1 FEMALE phenopacket.store:RERE.PMID_29330883_Subject_3 biolink:Case Subject 3 MALE phenopacket.store:RERE.PMID_27087320_Subject_8 biolink:Case Subject 8 MALE phenopacket.store:RERE.PMID_27087320_Subject_4 biolink:Case Subject 4 FEMALE phenopacket.store:RET.PMID_24331334_father biolink:Case father MALE phenopacket.store:RET.PMID_24331334_DM_patient biolink:Case DM patient FEMALE phenopacket.store:RETREG1.PMID_30643655_F1_IV_3 biolink:Case F1:IV:3 MALE phenopacket.store:RETREG1.PMID_30643655_F2_IV_1 biolink:Case F2:IV:1 MALE phenopacket.store:RETREG1.PMID_30643655_F1_IV_1 biolink:Case F1:IV:1 FEMALE phenopacket.store:RETREG1.PMID_30643655_F1_IV_2 biolink:Case F1:IV:2 FEMALE phenopacket.store:RFX5.PMID_30170160_P7 biolink:Case P7 MALE phenopacket.store:RFX5.PMID_38441205_P1 biolink:Case P1 FEMALE phenopacket.store:RFX5.PMID_38441205_P8 biolink:Case P8 MALE phenopacket.store:RFX5.PMID_30170160_P5 biolink:Case P5 MALE phenopacket.store:RFX5.PMID_37584719_P18 biolink:Case P18 MALE phenopacket.store:RFX5.PMID_38441205_P4 biolink:Case P4 MALE phenopacket.store:RFX5.PMID_37584719_P17 biolink:Case P17 MALE phenopacket.store:RFX5.PMID_30170160_P6 biolink:Case P6 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P17 biolink:Case Patient P17 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P2 biolink:Case Patient P2 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P7 biolink:Case Patient P7 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P6 biolink:Case Patient P6 FEMALE phenopacket.store:RFXANK.PMID_37584719_Patient_P15 biolink:Case Patient P15 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P5 biolink:Case Patient P5 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P3 biolink:Case Patient P3 MALE phenopacket.store:RFXANK.PMID_11313409_patient_JER biolink:Case patient JER MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P4 biolink:Case Patient P4 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P1 biolink:Case Patient P1 FEMALE phenopacket.store:RFXANK.PMID_37584719_Patient_P8 biolink:Case Patient P8 FEMALE phenopacket.store:RFXANK.PMID_37584719_Patient_P9 biolink:Case Patient P9 FEMALE phenopacket.store:RFXANK.PMID_37584719_Patient_P13 biolink:Case Patient P13 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P11 biolink:Case Patient P11 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P12 biolink:Case Patient P12 MALE phenopacket.store:RFXANK.PMID_37584719_Patient_P10 biolink:Case Patient P10 FEMALE phenopacket.store:RFXANK.PMID_37584719_Patient_P16 biolink:Case Patient P16 FEMALE phenopacket.store:RFXAP.PMID_37584719_P16 biolink:Case P16 FEMALE phenopacket.store:RFXAP.PMID_37584719_P14 biolink:Case P14 MALE phenopacket.store:RFXAP.PMID_22390233_Case_report biolink:Case Case report FEMALE phenopacket.store:RFXAP.PMID_37584719_P15 biolink:Case P15 MALE phenopacket.store:RGS9.PMID_19818506_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:RGS9.PMID_14702087_Patient_4_of_PMID_1790747 biolink:Case Patient 4 of PMID:1790747 phenopacket.store:RGS9.PMID_14702087_Patient_3_of_PMID_1790747 biolink:Case Patient 3 of PMID:1790747 phenopacket.store:RGS9.PMID_14702087_Patient_2_of_PMID_1790747 biolink:Case Patient 2 of PMID:1790747 phenopacket.store:RGS9.PMID_14702087_the_fourth_Dutch_index_patient biolink:Case the fourth Dutch index patient phenopacket.store:RGS9BP.PMID_19818506_Patient_1B biolink:Case Patient 1B FEMALE phenopacket.store:RGS9BP.PMID_17698770_19_year_old_Chinese_man biolink:Case 19-year-old Chinese man MALE phenopacket.store:RGS9BP.PMID_19818506_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:RGS9BP.PMID_14702087_Guatemalan_patient biolink:Case Guatemalan patient MALE phenopacket.store:RGS9BP.PMID_19818506_Patient_1A biolink:Case Patient 1A FEMALE phenopacket.store:RNF31.PMID_30936877_8-year-old_girl biolink:Case 8-year-old girl FEMALE phenopacket.store:RNF31.PMID_26008899_patient biolink:Case patient FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_1_RGP_432_3 biolink:Case Individual 1-RGP_432_3 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_29_UDN160738 biolink:Case Individual 29-UDN160738 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_30_GEL_recode1 biolink:Case Individual 30-GEL-recode1 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_41_GEL_230971 biolink:Case Individual 41-GEL-230971 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_42_GEL_recode4 biolink:Case Individual 42-GEL-recode4 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_5_RGP_119_3 biolink:Case Individual 5-RGP_119_3 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_8_GSS_case biolink:Case Individual 8-GSS_case MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_9_PMGRC_148_148_0_UDN162487 biolink:Case Individual 9-PMGRC-148-148-0/UDN162487 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_43_GEL_230871 biolink:Case Individual 43-GEL-230871 FEMALE phenopacket.store:RNU4-2.PMID_39369315_Participant_9 biolink:Case Participant 9 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_37_GEL_231374 biolink:Case Individual 37-GEL-231374 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_4_RGP_607_3 biolink:Case Individual 4-RGP_607_3 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_11_PMGRC_509_509_0 biolink:Case Individual 11-PMGRC-509-509-0 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_21_LU0125 biolink:Case Individual 21-LU0125 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_25_UDN_Vand_A biolink:Case Individual 25-UDN_Vand_A MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_28_UDN135254 biolink:Case Individual 28-UDN135254 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_48_GeneAdd_S00092_OHMRFam16 biolink:Case Individual 48-GeneAdd_S00092; OHMRFam16 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_44_GEL_230870 biolink:Case Individual 44-GEL-230870 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_39_GEL_230986 biolink:Case Individual 39-GEL-230986 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_32_GEL_230999 biolink:Case Individual 32-GEL-230999 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_12_A0131082 biolink:Case Individual 12-A0131082 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_27_UDN_Vand_C biolink:Case Individual 27-UDN_Vand_C MALE phenopacket.store:RNU4-2.PMID_39369315_Participant_11 biolink:Case Participant 11 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_16_GeneAdd_S00097_OHMR4Fam_27 biolink:Case Individual 16-GeneAdd_S00097;OHMR4Fam 27 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_23_AA27 biolink:Case Individual 23-AA27 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_46_GEL_236225 biolink:Case Individual 46-GEL-236225 MALE phenopacket.store:RNU4-2.PMID_39369315_Participant_6 biolink:Case Participant 6 MALE phenopacket.store:RNU4-2.PMID_39369315_Participant_2 biolink:Case Participant 2 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_10_PMGRC_388_388_0 biolink:Case Individual 10-PMGRC-388-388-0 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_14_RDN0267 biolink:Case Individual 14-RDN0267 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_6_MAN_0872 biolink:Case Individual 6-MAN_0872 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_20_ROS_015 biolink:Case Individual 20-ROS_015 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_2_RGP_1641_3 biolink:Case Individual 2-RGP_1641_3 MALE phenopacket.store:RNU4-2.PMID_39369315_Participant_10 biolink:Case Participant 10 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_33_GEL_230976 biolink:Case Individual 33-GEL-230976 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_19_M96157_2102231 biolink:Case Individual 19-M96157/2102231 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_15_RDN0180_VCGS_FAM27 biolink:Case Individual 15-RDN0180 (VCGS FAM27) FEMALE phenopacket.store:RNU4-2.PMID_39369315_Participant_1 biolink:Case Participant 1 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_7_WIL_WG biolink:Case Individual 7-WIL_WG MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_36_GEL_230985 biolink:Case Individual 36-GEL-230985 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_45_VCGS_FAM147_459 biolink:Case Individual 45-VCGS_FAM147_459 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_18_M92621 biolink:Case Individual 18-M92621 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_34_GEL_recode2 biolink:Case Individual 34-GEL-recode2 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_17_DT17 biolink:Case Individual 17-DT17 MALE phenopacket.store:RNU4-2.PMID_39369315_Participant_7 biolink:Case Participant 7 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_13_RDN0276 biolink:Case Individual 13-RDN0276 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_22_120746 biolink:Case Individual 22-120746 MALE phenopacket.store:RNU4-2.PMID_39369315_Participant_3 biolink:Case Participant 3 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_49_GEL_236222 biolink:Case Individual 49-GEL-236222 FEMALE phenopacket.store:RNU4-2.PMID_39369315_Participant_4 biolink:Case Participant 4 FEMALE phenopacket.store:RNU4-2.PMID_39369315_Participant_8 biolink:Case Participant 8 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_35_GEL_recode3 biolink:Case Individual 35-GEL-recode3 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_38_GEL_231370 biolink:Case Individual 38-GEL-231370 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_40_GEL_231375 biolink:Case Individual 40-GEL-231375 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_24_UDN949414 biolink:Case Individual 24-UDN949414 MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_47_PMGRC_599_599_0 biolink:Case Individual 47-PMGRC-599-599-0 FEMALE phenopacket.store:RNU4-2.PMID_38859706_individual biolink:Case individual FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_31_SMS biolink:Case Individual 31-SMS MALE phenopacket.store:RNU4-2.PMID_38991538_Individual_3_RGP_696_3_UDN940672 biolink:Case Individual 3-RGP_696_3/UDN940672 MALE phenopacket.store:RNU4-2.PMID_39369315_Participant_5 biolink:Case Participant 5 FEMALE phenopacket.store:RNU4-2.PMID_38991538_Individual_26_UDN_Vand_B biolink:Case Individual 26-UDN_Vand_B MALE phenopacket.store:ROR2.PMID_35344616_A17 biolink:Case A17 phenopacket.store:ROR2.PMID_15952209_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:ROR2.PMID_35344616_A2 biolink:Case A2 phenopacket.store:ROR2.PMID_35344616_A19 biolink:Case A19 phenopacket.store:ROR2.PMID_35344616_A1 biolink:Case A1 phenopacket.store:ROR2.PMID_35344616_A3 biolink:Case A3 phenopacket.store:ROR2.PMID_35344616_A11 biolink:Case A11 phenopacket.store:ROR2.PMID_35344616_A14 biolink:Case A14 phenopacket.store:ROR2.PMID_35344616_A5 biolink:Case A5 phenopacket.store:ROR2.PMID_22178368_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:ROR2.PMID_24932600_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:ROR2.PMID_35344616_A6 biolink:Case A6 phenopacket.store:ROR2.PMID_19640924_patient biolink:Case patient MALE phenopacket.store:ROR2.PMID_17665217_first_case biolink:Case first case MALE phenopacket.store:ROR2.PMID_35344616_A21 biolink:Case A21 phenopacket.store:ROR2.PMID_35344616_A7 biolink:Case A7 phenopacket.store:ROR2.PMID_35344616_A10 biolink:Case A10 phenopacket.store:ROR2.PMID_35344616_A15 biolink:Case A15 phenopacket.store:ROR2.PMID_35344616_A18 biolink:Case A18 phenopacket.store:ROR2.PMID_35344616_A22 biolink:Case A22 phenopacket.store:ROR2.PMID_15952209_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:ROR2.PMID_35344616_A8 biolink:Case A8 phenopacket.store:ROR2.PMID_35344616_A12 biolink:Case A12 phenopacket.store:ROR2.PMID_35344616_A16 biolink:Case A16 phenopacket.store:ROR2.PMID_35344616_A20 biolink:Case A20 phenopacket.store:ROR2.PMID_22178368_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:ROR2.PMID_35344616_A4 biolink:Case A4 phenopacket.store:ROR2.PMID_24932600_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:ROR2.PMID_35344616_A9 biolink:Case A9 phenopacket.store:ROR2.PMID_24932600_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:ROR2.PMID_17665217_second_case biolink:Case second case FEMALE phenopacket.store:ROR2.PMID_35344616_A13 biolink:Case A13 phenopacket.store:RPGRIP1.PMID_24997176_Family_16 biolink:Case Family 16 FEMALE phenopacket.store:RPGRIP1.PMID_30072743_individual_601_1236 biolink:Case individual 601–1236 MALE phenopacket.store:RPGRIP1.PMID_25943428_MA117 biolink:Case MA117 phenopacket.store:RPGRIP1.PMID_23505306_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE55 biolink:Case Patient EYE55 MALE phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_1 biolink:Case Family 1 individual 1 MALE phenopacket.store:RPGRIP1.PMID_12920066_small_family_10CRD biolink:Case small family 10CRD phenopacket.store:RPGRIP1.PMID_26992781_QT1117 biolink:Case QT1117 MALE phenopacket.store:RPGRIP1.PMID_23505306_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_2 biolink:Case individual MOL1124-2 MALE phenopacket.store:RPGRIP1.PMID_30072743_individual_501_336 biolink:Case individual 501–336 FEMALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1150_1 biolink:Case individual MOL1150-1 MALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_5 biolink:Case individual MOL0358-5 MALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF93 biolink:Case Patient SRF93 FEMALE phenopacket.store:RPGRIP1.PMID_23505306_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF113 biolink:Case Patient SRF113 FEMALE phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE64 biolink:Case Patient EYE64 MALE phenopacket.store:RPGRIP1.PMID_28966547_Patient_P9 biolink:Case Patient P9 phenopacket.store:RPGRIP1.PMID_18682808_Patient_13 biolink:Case Patient 13 FEMALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF79 biolink:Case Patient SRF79 FEMALE phenopacket.store:RPGRIP1.PMID_30576320_Patient_17 biolink:Case Patient 17 FEMALE phenopacket.store:RPGRIP1.PMID_24997176_Family_18 biolink:Case Family 18 FEMALE phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_1 biolink:Case Family 19 individual 1 FEMALE phenopacket.store:RPGRIP1.PMID_30072743_individual_827_1591 biolink:Case individual 827–1591 MALE phenopacket.store:RPGRIP1.PMID_30576320_Patient_16 biolink:Case Patient 16 MALE phenopacket.store:RPGRIP1.PMID_23505306_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0358_3 biolink:Case individual MOL0358-3 FEMALE phenopacket.store:RPGRIP1.PMID_27422788_Patient_28 biolink:Case Patient 28 FEMALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF97 biolink:Case Patient SRF97 MALE phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_2 biolink:Case Family 2 individual 2 MALE phenopacket.store:RPGRIP1.PMID_21602930_QT584 biolink:Case QT584 FEMALE phenopacket.store:RPGRIP1.PMID_33308271_Patient_22_50 biolink:Case Patient 22–50 FEMALE phenopacket.store:RPGRIP1.PMID_21602930_QT587 biolink:Case QT587 FEMALE phenopacket.store:RPGRIP1.PMID_24997176_Family_19_individual_2 biolink:Case Family 19 individual 2 MALE phenopacket.store:RPGRIP1.PMID_30576320_Patient_14 biolink:Case Patient 14 FEMALE phenopacket.store:RPGRIP1.PMID_29053603_proband biolink:Case proband phenopacket.store:RPGRIP1.PMID_24997176_Family_14 biolink:Case Family 14 FEMALE phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_23 biolink:Case Patient 7–23 FEMALE phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R74 biolink:Case individual TB33-R74 MALE phenopacket.store:RPGRIP1.PMID_29193763_Individual_II_1 biolink:Case Individual II:1 FEMALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_4 biolink:Case individual MOL1124-4 MALE phenopacket.store:RPGRIP1.PMID_25096270_Case_1 biolink:Case Case 1 MALE phenopacket.store:RPGRIP1.PMID_21602930_QT511 biolink:Case QT511 MALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_3 biolink:Case individual MOL1403-3 MALE phenopacket.store:RPGRIP1.PMID_17306875_Case_Report biolink:Case Case Report MALE phenopacket.store:RPGRIP1.PMID_28456785_P024 biolink:Case P024 FEMALE phenopacket.store:RPGRIP1.PMID_30072743_individual_79_194 biolink:Case individual 79–194 FEMALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF103 biolink:Case Patient SRF103 FEMALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF77 biolink:Case Patient SRF77 MALE phenopacket.store:RPGRIP1.PMID_24997176_Family_1_individual_2 biolink:Case Family 1 individual 2 FEMALE phenopacket.store:RPGRIP1.PMID_24997176_Family_2_individual_1 biolink:Case Family 2 individual 1 MALE phenopacket.store:RPGRIP1.PMID_21602930_QT654 biolink:Case QT654 MALE phenopacket.store:RPGRIP1.PMID_21602930_QT312 biolink:Case QT312 MALE phenopacket.store:RPGRIP1.PMID_34722527_individual_TB33_R73 biolink:Case individual TB33-R73 MALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_1 biolink:Case individual MOL0597-1 MALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF153 biolink:Case Patient SRF153 MALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF87 biolink:Case Patient SRF87 MALE phenopacket.store:RPGRIP1.PMID_24997176_Family_13 biolink:Case Family 13 FEMALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1403_1 biolink:Case individual MOL1403-1 MALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF133 biolink:Case Patient SRF133 MALE phenopacket.store:RPGRIP1.PMID_30072743_individual_949_1907 biolink:Case individual 949–1907 MALE phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE65 biolink:Case Patient EYE65 MALE phenopacket.store:RPGRIP1.PMID_12920066_small_family_5CRD biolink:Case small family 5CRD phenopacket.store:RPGRIP1.PMID_24066033_LCA81_1 biolink:Case LCA81–1 FEMALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL1124_1 biolink:Case individual MOL1124-1 MALE phenopacket.store:RPGRIP1.PMID_21602930_QT491 biolink:Case QT491 MALE phenopacket.store:RPGRIP1.PMID_27422788_Patient_25 biolink:Case Patient 25 MALE phenopacket.store:RPGRIP1.PMID_33308271_Patient_7_24 biolink:Case Patient 7–24 MALE phenopacket.store:RPGRIP1.PMID_28453600_Patient_LCATH4 biolink:Case Patient LCATH4 MALE phenopacket.store:RPGRIP1.PMID_24997176_Family_4 biolink:Case Family 4 MALE phenopacket.store:RPGRIP1.PMID_30072743_individual_237_523 biolink:Case individual 237–523 FEMALE phenopacket.store:RPGRIP1.PMID_25096270_Case_2 biolink:Case Case 2 MALE phenopacket.store:RPGRIP1.PMID_26047050_Patient_SRF115 biolink:Case Patient SRF115 MALE phenopacket.store:RPGRIP1.PMID_24997176_Family_11 biolink:Case Family 11 FEMALE phenopacket.store:RPGRIP1.PMID_24997176_Family_15 biolink:Case Family 15 FEMALE phenopacket.store:RPGRIP1.PMID_21602930_RP208 biolink:Case RP208 FEMALE phenopacket.store:RPGRIP1.PMID_30072743_individual_690_1378 biolink:Case individual 690–1378 FEMALE phenopacket.store:RPGRIP1.PMID_23505306_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:RPGRIP1.PMID_27422788_Patient_26 biolink:Case Patient 26 FEMALE phenopacket.store:RPGRIP1.PMID_28456785_P065 biolink:Case P065 MALE phenopacket.store:RPGRIP1.PMID_28456785_P030 biolink:Case P030 FEMALE phenopacket.store:RPGRIP1.PMID_34722527_individual_MOLO358_1 biolink:Case individual MOLO358-1 FEMALE phenopacket.store:RPGRIP1.PMID_27422788_Patient_27 biolink:Case Patient 27 MALE phenopacket.store:RPGRIP1.PMID_23661368_Family_8_II_1 biolink:Case Family 8-II:1 FEMALE phenopacket.store:RPGRIP1.PMID_23505306_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:RPGRIP1.PMID_34722527_Individual_MOL0600_1 biolink:Case Individual MOL0600-1 MALE phenopacket.store:RPGRIP1.PMID_32736544_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:RPGRIP1.PMID_32736544_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:RPGRIP1.PMID_23661368_Family_9_II_2 biolink:Case Family 9-II:2 MALE phenopacket.store:RPGRIP1.PMID_12920066_IV_7_Family_1CRD biolink:Case IV.7 (Family 1CRD) FEMALE phenopacket.store:RPGRIP1.PMID_31666973_Patient_EYE20 biolink:Case Patient EYE20 FEMALE phenopacket.store:RPGRIP1.PMID_12920066_IV_5_Family_1CRD biolink:Case IV.5 (Family 1CRD) MALE phenopacket.store:RPGRIP1.PMID_30576320_Patient_15 biolink:Case Patient 15 MALE phenopacket.store:RPGRIP1.PMID_23505306_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:RPGRIP1.PMID_12920066_IV_1_Family_4CRD biolink:Case IV.1 (Family 4CRD) phenopacket.store:RPGRIP1.PMID_34722527_individual_MOL0597_2 biolink:Case individual MOL0597-2 FEMALE phenopacket.store:RPGRIP1.PMID_24997176_Family_10 biolink:Case Family 10 FEMALE phenopacket.store:RPGRIP1.PMID_23505306_Patient_8 biolink:Case Patient 8 FEMALE phenopacket.store:RPGRIP1.PMID_30072743_individual_281_608 biolink:Case individual 281–608 MALE phenopacket.store:RPGRIP1.PMID_23505306_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:RPS19.PMID_35923690_50–5 biolink:Case 50–5 MALE phenopacket.store:RPS19.PMID_35923690_50–10 biolink:Case 50–10 MALE phenopacket.store:RPS19.PMID_35923690_50–2 biolink:Case 50–2 MALE phenopacket.store:RPS19.PMID_35923690_50–4 biolink:Case 50–4 MALE phenopacket.store:RPS19.PMID_35923690_50–8 biolink:Case 50–8 FEMALE phenopacket.store:RPS19.PMID_35923690_50–6 biolink:Case 50–6 FEMALE phenopacket.store:RPS19.PMID_35923690_50–3 biolink:Case 50–3 FEMALE phenopacket.store:RPS19.PMID_35923690_50–7 biolink:Case 50–7 MALE phenopacket.store:RPS19.PMID_27732904_patient biolink:Case patient FEMALE phenopacket.store:RPS19.PMID_35923690_50–9 biolink:Case 50–9 FEMALE phenopacket.store:RPS19.PMID_35923690_50–1 biolink:Case 50–1 MALE phenopacket.store:RRM1.PMID_35617047_Proband_1a biolink:Case Proband 1a MALE phenopacket.store:RRM1.PMID_35617047_Proband_3 biolink:Case Proband 3 MALE phenopacket.store:RRM1.PMID_35617047_Proband_4 biolink:Case Proband 4 FEMALE phenopacket.store:RRM1.PMID_35617047_Proband_2 biolink:Case Proband 2 FEMALE phenopacket.store:RRM1.PMID_35617047_Proband_1b biolink:Case Proband 1b MALE phenopacket.store:RTN2.PMID_38527963_F5_Case_9 biolink:Case F5 Case 9 MALE phenopacket.store:RTN2.PMID_38527963_F4_Case_7 biolink:Case F4 Case 7 FEMALE phenopacket.store:RTN2.PMID_38527963_F7_Case_13 biolink:Case F7 Case 13 FEMALE phenopacket.store:RTN2.PMID_38527963_F2_Case_4 biolink:Case F2 Case 4 MALE phenopacket.store:RTN2.PMID_38527963_F4_Case_8 biolink:Case F4 Case 8 FEMALE phenopacket.store:RTN2.PMID_38527963_F3_Case_5 biolink:Case F3 Case 5 MALE phenopacket.store:RTN2.PMID_38527963_F1_Case_1 biolink:Case F1 Case 1 FEMALE phenopacket.store:RTN2.PMID_38527963_F1_Case_2 biolink:Case F1 Case 2 MALE phenopacket.store:RTN2.PMID_38527963_F5_Case_10 biolink:Case F5 Case 10 FEMALE phenopacket.store:RTN2.PMID_38527963_F6_Case_12 biolink:Case F6 Case 12 MALE phenopacket.store:RTN2.PMID_38527963_F6_Case_11 biolink:Case F6 Case 11 MALE phenopacket.store:RTN2.PMID_38527963_F7_Case_14 biolink:Case F7 Case 14 FEMALE phenopacket.store:RTN2.PMID_38527963_F2_Case_3 biolink:Case F2 Case 3 MALE phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_3 biolink:Case Family 1, Individual 3 MALE phenopacket.store:RTTN.PMID_22939636_Family_2_Individual_1 biolink:Case Family 2, Individual 1 MALE phenopacket.store:RTTN.PMID_29883675_second_family_patient_3 biolink:Case second family patient 3 FEMALE phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_1 biolink:Case Family 1, Individual 1 MALE phenopacket.store:RTTN.PMID_22939636_Family_1_Individual_2 biolink:Case Family 1, Individual 2 FEMALE phenopacket.store:RTTN.PMID_29883675_first_family_patient_1 biolink:Case first family patient 1 FEMALE phenopacket.store:RTTN.PMID_29883675_first_family_patient_2 biolink:Case first family patient 2 FEMALE phenopacket.store:RUNX2.PMID_31548836_Family_D_II1_()_ biolink:Case Family_D_II1 () MALE phenopacket.store:RUNX2.PMID_31548836_Family_B_II1 biolink:Case Family_B_II1 FEMALE phenopacket.store:RUNX2.PMID_31548836_Family_G_III1 biolink:Case Family_G_III1 MALE phenopacket.store:RUNX2.PMID_31548836_Family_E_II1 biolink:Case Family_E_II1 FEMALE phenopacket.store:RUNX2.PMID_31548836_Family_C_II1 biolink:Case Family_C_II1 MALE phenopacket.store:RUNX2.PMID_31548836_Family_A_II1 biolink:Case Family_A_II1 MALE phenopacket.store:RUNX2.PMID_31548836_Family_F_III1 biolink:Case Family_F_III1 MALE phenopacket.store:RUNX2.PMID_24966961_proband biolink:Case proband FEMALE phenopacket.store:RYR2.PMID_30296944_Case_presentation biolink:Case Case presentation MALE phenopacket.store:SALL1.PMID_29110636_proband_VMFS biolink:Case proband VMFS MALE phenopacket.store:SAMD7.PMID_38272031_Individual_2_2 biolink:Case Individual 2-2 MALE phenopacket.store:SAMD7.PMID_38272031_Individual_6_1 biolink:Case Individual 6-1 FEMALE phenopacket.store:SAMD7.PMID_38272031_Individual_5_1 biolink:Case Individual 5-1 FEMALE phenopacket.store:SAMD7.PMID_38272031_Individual_3_1 biolink:Case Individual 3-1 FEMALE phenopacket.store:SAMD7.PMID_38272031_Individual_4_2 biolink:Case Individual 4-2 MALE phenopacket.store:SAMD7.PMID_38272031_Individual_4_1 biolink:Case Individual 4-1 FEMALE phenopacket.store:SAMD7.PMID_38272031_Individual_2_1 biolink:Case Individual 2-1 MALE phenopacket.store:SAMD7.PMID_38272031_Individual_1_1 biolink:Case Individual 1-1 FEMALE phenopacket.store:SAMD9L.PMID_29217778_P1_D084 biolink:Case P1-D084 MALE phenopacket.store:SAMD9L.PMID_29217778_P4_US2 biolink:Case P4-US2 MALE phenopacket.store:SAMD9L.PMID_28202457_F1_III_1 biolink:Case F1:III-1 MALE phenopacket.store:SAMD9L.PMID_35310830_Individual_V_3 biolink:Case Individual V:3 FEMALE phenopacket.store:SAMD9L.PMID_27259050_III_5 biolink:Case III-5 MALE phenopacket.store:SAMD9L.PMID_28202457_F2_II_4 biolink:Case F2:II-4 MALE phenopacket.store:SAMD9L.PMID_35310830_Individual_V_1 biolink:Case Individual V:1 MALE phenopacket.store:SAMD9L.PMID_27259050_III_3 biolink:Case III-3 MALE phenopacket.store:SAMD9L.PMID_28202457_F1_III_2 biolink:Case F1:III-2 FEMALE phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_2 biolink:Case Individual IV:2 MALE phenopacket.store:SAMD9L.PMID_28202457_F2_1_2 biolink:Case F2:1-2 FEMALE phenopacket.store:SAMD9L.PMID_28202457_F1_II_2 biolink:Case F1:II-2 FEMALE phenopacket.store:SAMD9L.PMID_27259050_III_8 biolink:Case III-8 FEMALE phenopacket.store:SAMD9L.PMID_28202457_F1_II_1 biolink:Case F1:II-1 FEMALE phenopacket.store:SAMD9L.PMID_28202457_F2_II_1 biolink:Case F2:II-1 MALE phenopacket.store:SAMD9L.PMID_29217778_P7_SC054 biolink:Case P7-SC054 FEMALE phenopacket.store:SAMD9L.PMID_29217778_P3_US1 biolink:Case P3-US1 FEMALE phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_8 biolink:Case Individual IV:8 FEMALE phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_14 biolink:Case Individual IV:14 MALE phenopacket.store:SAMD9L.PMID_35310830_Individual_IV_6 biolink:Case Individual IV:6 FEMALE phenopacket.store:SAMD9L.PMID_35310830_Individual_III_7 biolink:Case Individual III:7 MALE phenopacket.store:SAMD9L.PMID_35310830_Individual_III_5 biolink:Case Individual III:5 FEMALE phenopacket.store:SAMD9L.PMID_29217778_P5_D637 biolink:Case P5-D637 MALE phenopacket.store:SAMD9L.PMID_28202457_F1_1_2 biolink:Case F1:1-2 MALE phenopacket.store:SAMD9L.PMID_29217778_P2_D154 biolink:Case P2-D154 FEMALE phenopacket.store:SAMD9L.PMID_33884299_Case_Presentation biolink:Case Case Presentation FEMALE phenopacket.store:SAMD9L.PMID_27259050_III_6 biolink:Case III-6 MALE phenopacket.store:SAMD9L.PMID_28202457_F1_II_4 biolink:Case F1:II-4 FEMALE phenopacket.store:SAMD9L.PMID_29217778_P6_D637f biolink:Case P6-D637f MALE phenopacket.store:SAMD9L.PMID_35310830_Individual_III_2 biolink:Case Individual III:2 FEMALE phenopacket.store:SAMD9L.PMID_28202457_F1_1_3 biolink:Case F1:1-3 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_26_from_Zarate_et_al__2018a biolink:Case SATB2-26 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_68 biolink:Case individual SATB2-68 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_100 biolink:Case individual SATB2-100 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_39_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-39 from Zarate et al., 2018a; Scott et al. MALE phenopacket.store:SATB2.PMID_31021519_264840_from_Bengani_et_al biolink:Case 264840 from Bengani et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_57_from_Zarate_et_al__2018a biolink:Case SATB2-57 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_Case_2_from_Rainger_et_al biolink:Case Case 2 from Rainger et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_90 biolink:Case individual SATB2-90 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_97 biolink:Case individual SATB2-97 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_75_from_Zarate_et_al__2018a biolink:Case SATB2-75 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_115 biolink:Case individual SATB2-115 FEMALE phenopacket.store:SATB2.PMID_31021519_individual_from_Kaiser_et_al biolink:Case individual from Kaiser et al. FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_135 biolink:Case individual SATB2-135 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_126 biolink:Case individual SATB2-126 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_58_from_Zarate_et_al__2018a biolink:Case SATB2-58 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_70886_from_Asadollahi_et_al biolink:Case 70886 from Asadollahi et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_140 biolink:Case individual SATB2-140 MALE phenopacket.store:SATB2.PMID_31021519_259030_from_Bengani_et_al biolink:Case 259030 from Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_04_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-04 from Zarate et al., 2018a; Scott et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_137 biolink:Case individual SATB2-137 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_10_from_Zarate_et_al__2018a biolink:Case SATB2-10 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_SATB2_48_from_Zarate_et_al__2018a biolink:Case SATB2-48 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Zarate_et_al__2015 biolink:Case Patient 3 from Zarate et al., 2015 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_142 biolink:Case individual SATB2-142 FEMALE phenopacket.store:SATB2.PMID_31021519_individual_from_Lieden_et_al biolink:Case individual from Lieden et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_41_from_Zarate_et_al__2018a biolink:Case SATB2-41 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_262240_from_Bengani_et_al biolink:Case 262240 from Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_122 biolink:Case individual SATB2-122 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_20_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-20 from Zarate et al., 2018a; Scott et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_16_from_Zarate_et_al__2018a__Bengani_et_al biolink:Case SATB2-16 from Zarate et al., 2018a; Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_07_from_Zarate_et_al__2018a biolink:Case SATB2-07 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_DGAP211_from_Talkowski_et_al biolink:Case DGAP211 from Talkowski et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_127 biolink:Case individual SATB2-127 FEMALE phenopacket.store:SATB2.PMID_31021519_271044_from_Bengani_et_al biolink:Case 271044 from Bengani et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_35_from_Zarate_et_al__2018a biolink:Case SATB2-35 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_259950_from_Bengani_et_al biolink:Case 259950 from Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_47_from_Zarate_et_al__2018a__Bengani_et_al biolink:Case SATB2-47 from Zarate et al., 2018a; Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_80 biolink:Case individual SATB2-80 FEMALE phenopacket.store:SATB2.PMID_31021519_individual_from_Boone_et_al biolink:Case individual from Boone et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_23_from_Zarate_et_al__2018a biolink:Case SATB2-23 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_SATB2_55_from_Zarate_et_al__2018a biolink:Case SATB2-55 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Zarate_et_al__2018a biolink:Case Patient 5 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_81 biolink:Case individual SATB2-81 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_103 biolink:Case individual SATB2-103 FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_119 biolink:Case individual SATB2-119 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_22_from_Zarate_et_al__2018a biolink:Case SATB2-22 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_108 biolink:Case individual SATB2-108 MALE phenopacket.store:SATB2.PMID_31021519_individual_from_Trakadis_et_al biolink:Case individual from Trakadis et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_89 biolink:Case individual SATB2-89 FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_124 biolink:Case individual SATB2-124 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_78_from_Zarate_et_al__2018a biolink:Case SATB2-78 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_138 biolink:Case individual SATB2-138 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_87_from_Bengani_This_study biolink:Case SATB2-87 from Bengani, This study MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_133 biolink:Case individual SATB2-133 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_92 biolink:Case individual SATB2-92 MALE phenopacket.store:SATB2.PMID_31021519_Subject_2_from_Rosenfeld_et_al biolink:Case Subject 2 from Rosenfeld et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_128 biolink:Case individual SATB2-128 FEMALE phenopacket.store:SATB2.PMID_31021519_28_from_Cherot_et_al biolink:Case #28 from Cherot et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_24_from_Zarate_et_al__2018a biolink:Case SATB2-24 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_113 biolink:Case individual SATB2-113 MALE phenopacket.store:SATB2.PMID_31021519_Case_49_from_Baptista_et_al biolink:Case Case 49 from Baptista et al. phenopacket.store:SATB2.PMID_31021519_individual_from_Lv_et_al biolink:Case individual from Lv et al. MALE phenopacket.store:SATB2.PMID_31021519_Case_1_from_Lee_et_al biolink:Case Case 1 from Lee et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_46_from_Zarate_et_al__2018a biolink:Case SATB2-46 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_62_from_Vissers_et_al biolink:Case #62 from Vissers et al. phenopacket.store:SATB2.PMID_31021519_Subject_3_from_Rosenfeld_et_al biolink:Case Subject 3 from Rosenfeld et al. FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_95 biolink:Case individual SATB2-95 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_123 biolink:Case individual SATB2-123 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_94 biolink:Case individual SATB2-94 MALE phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Kikuiri_et_al biolink:Case Patient 1 from Kikuiri et al. FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_98 biolink:Case individual SATB2-98 FEMALE phenopacket.store:SATB2.PMID_31021519_Patient_2_from_Kikuiri_et_al biolink:Case Patient 2 from Kikuiri et al. FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_104 biolink:Case individual SATB2-104 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_71_from_Zarate_et_al__2018a biolink:Case SATB2-71 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_70_from_Zarate_et_al__2018a biolink:Case SATB2-70 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_83 biolink:Case individual SATB2-83 FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_132 biolink:Case individual SATB2-132 MALE phenopacket.store:SATB2.PMID_31021519_25_from_Gilissen_et_al biolink:Case 25 from Gilissen et al. phenopacket.store:SATB2.PMID_31021519_individual_2_from_Farwell_et_al biolink:Case individual 2 from Farwell et al. phenopacket.store:SATB2.PMID_31021519_individual_SATB2_114 biolink:Case individual SATB2-114 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_52_from_Zarate_et_al__2018a biolink:Case SATB2-52 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_individual_from_Tegay_et_al biolink:Case individual from Tegay et al. MALE phenopacket.store:SATB2.PMID_31021519_261355_from_Bengani_et_al biolink:Case 261355 from Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_96 biolink:Case individual SATB2-96 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_64_from_Zarate_et_al__2018a biolink:Case SATB2-64 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_263440_from_Bengani_et_al biolink:Case 263440 from Bengani et al. FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_121 biolink:Case individual SATB2-121 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_06_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-06 from Zarate et al., 2018a; Scott et al. MALE phenopacket.store:SATB2.PMID_31021519_ER52725_from_Rauch_et_al biolink:Case ER52725 from Rauch et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_60_from_Zarate_et_al__2018a biolink:Case SATB2-60 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_265038_from_Bengani_et_al biolink:Case 265038 from Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_107 biolink:Case individual SATB2-107 FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_112 biolink:Case individual SATB2-112 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_73_from_Bengani_et_al biolink:Case SATB2-73 from Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_65_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-65 from Zarate et al., 2018a; Scott et al. FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_88 biolink:Case individual SATB2-88 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_03_from_Zarate_et_al__2018a biolink:Case SATB2-03 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_Case_1_from_Brewer_et_al biolink:Case Case 1 from Brewer et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_54_from_Zarate_et_al__2018a biolink:Case SATB2-54 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_SATB2_27_from_Zarate_et_al__2018a__Bengani_et_al biolink:Case SATB2-27 from Zarate et al., 2018a; Bengani et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_49_from_Zarate_et_al__2018a biolink:Case SATB2-49 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_91 biolink:Case individual SATB2-91 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_117 biolink:Case individual SATB2-117 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_59_from_Zarate_et_al__2018a biolink:Case SATB2-59 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_125 biolink:Case individual SATB2-125 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_34_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-34 from Zarate et al., 2018a; Scott et al. FEMALE phenopacket.store:SATB2.PMID_31021519_Patient_1_from_Zarate_et_al__2015 biolink:Case Patient 1 from Zarate et al., 2015 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_101 biolink:Case individual SATB2-101 FEMALE phenopacket.store:SATB2.PMID_31021519_Subject_1_from_Rosenfeld_et_al biolink:Case Subject 1 from Rosenfeld et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_51_from_Zarate_et_al__2018a biolink:Case SATB2-51 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_42_from_Zarate_et_al__2018a biolink:Case SATB2-42 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_129 biolink:Case individual SATB2-129 FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_111 biolink:Case individual SATB2-111 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_38_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-38 from Zarate et al., 2018a; Scott et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_69_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-69 from Zarate et al., 2018a; Scott et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_67_from_Zarate_et_al__2018a biolink:Case SATB2-67 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_116 biolink:Case individual SATB2-116 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_139 biolink:Case individual SATB2-139 MALE phenopacket.store:SATB2.PMID_31021519_Patient_3_from_Kikuiri_et_al biolink:Case Patient 3 from Kikuiri et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_from_Farwell_et_al biolink:Case individual from Farwell et al. phenopacket.store:SATB2.PMID_31021519_SATB2_14_from_Zarate_et_al__2018a biolink:Case SATB2-14 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_Case_2_from_Lee_et_al biolink:Case Case 2 from Lee et al. FEMALE phenopacket.store:SATB2.PMID_31021519_Case_14_from_Bengani_et_al biolink:Case Case 14 from Bengani et al. phenopacket.store:SATB2.PMID_31021519_SATB2_86_from_Bengani_This_study biolink:Case SATB2-86 from Bengani, This study MALE phenopacket.store:SATB2.PMID_31021519_SATB2_08_from_Zarate_et_al__2018a biolink:Case SATB2-08 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_33_from_Zarate_et_al__2018a biolink:Case SATB2-33 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_130 biolink:Case individual SATB2-130 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_25_from_Zarate_et_al__2018a biolink:Case SATB2-25 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_109 biolink:Case individual SATB2-109 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_79_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-79 from Zarate et al., 2018a; Scott et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_84 biolink:Case individual SATB2-84 FEMALE phenopacket.store:SATB2.PMID_31021519_Patient_5_from_Balasubramanian_et_al biolink:Case Patient 5 from Balasubramanian et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_01_from_Zarate_et_al__2018a biolink:Case SATB2-01 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_106 biolink:Case individual SATB2-106 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_136 biolink:Case individual SATB2-136 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_102 biolink:Case individual SATB2-102 MALE phenopacket.store:SATB2.PMID_31021519_Case_8_AN_from_Bengani_et_al biolink:Case Case 8 AN from Bengani et al. FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_131 biolink:Case individual SATB2-131 MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_134 biolink:Case individual SATB2-134 FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_110 biolink:Case individual SATB2-110 MALE phenopacket.store:SATB2.PMID_31021519_260175_from_Bengani_et_al biolink:Case 260175 from Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_105 biolink:Case individual SATB2-105 FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_43_from_Zarate_et_al__2018a biolink:Case SATB2-43 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_279803_from_Bengani_et_al biolink:Case 279803 from Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_82 biolink:Case individual SATB2-82 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_29_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-29 from Zarate et al., 2018a; Scott et al. MALE phenopacket.store:SATB2.PMID_31021519_Case_1_from_Rainger_et_al biolink:Case Case 1 from Rainger et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_05_from_Zarate_et_al__2018a biolink:Case SATB2-05 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_02_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-02 from Zarate et al., 2018a; Scott et al. FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_36_from_Zarate_et_al__2018a biolink:Case SATB2-36 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_SATB2_53_from_Zarate_et_al__2018a_Scott_et_al biolink:Case SATB2-53 from Zarate et al., 2018a; Scott et al. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_18_from_Zarate_et_al__2018a biolink:Case SATB2-18 from Zarate et al., 2018a FEMALE phenopacket.store:SATB2.PMID_31021519_individual_from_Leoykland_e_tal biolink:Case individual from Leoykland e tal. MALE phenopacket.store:SATB2.PMID_31021519_SATB2_28_from_Zarate_et_al__2018a biolink:Case SATB2-28 from Zarate et al., 2018a MALE phenopacket.store:SATB2.PMID_31021519_SATB2_31_from_Zarate_et_al__2018a__Bengani_et_al biolink:Case SATB2-31 from Zarate et al., 2018a; Bengani et al. MALE phenopacket.store:SATB2.PMID_31021519_262560_from_Bengani_et_al biolink:Case 262560 from Bengani et al. FEMALE phenopacket.store:SATB2.PMID_31021519_individual_SATB2_120 biolink:Case individual SATB2-120 MALE phenopacket.store:SATB2.PMID_31021519_SATB2_76_from_Zarate_et_al__2018a biolink:Case SATB2-76 from Zarate et al., 2018a MALE phenopacket.store:SC5D.PMID_12812989_atypical_SLOS_patient biolink:Case atypical SLOS patient phenopacket.store:SC5D.PMID_17853487_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:SC5D.PMID_17853487_Patient_1 biolink:Case Patient 1 phenopacket.store:SCAF4.PMID_32730804_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:SCAF4.PMID_36333968_16-year-oldBrazilian_male biolink:Case 16-year-oldBrazilian male MALE phenopacket.store:SCAF4.PMID_32730804_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:SCAF4.PMID_32730804_Individual_6 biolink:Case Individual 6 MALE phenopacket.store:SCAF4.PMID_37394306_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:SCAF4.PMID_32730804_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:SCAF4.PMID_32730804_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:SCAF4.PMID_32730804_Individual_9 biolink:Case Individual 9 FEMALE phenopacket.store:SCAF4.PMID_32730804_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:SCAF4.PMID_32730804_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:SCAF4.PMID_32730804_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:SCARF2.PMID_20887961_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:SCARF2.PMID_29378527_male_sinbling biolink:Case male sinbling MALE phenopacket.store:SCARF2.PMID_20887961_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:SCARF2.PMID_20887961_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:SCARF2.PMID_29378527_female_sibling biolink:Case female sibling FEMALE phenopacket.store:SCARF2.PMID_20887961_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:SCN2A.PMID_33731876_fam3 biolink:Case fam3 phenopacket.store:SCN2A.PMID_33731876_fam309 biolink:Case fam309 phenopacket.store:SCN2A.PMID_33731876_fam272 biolink:Case fam272 phenopacket.store:SCN2A.PMID_33731876_fam110 biolink:Case fam110 phenopacket.store:SCN2A.PMID_33731876_fam390 biolink:Case fam390 phenopacket.store:SCN2A.PMID_33731876_fam115 biolink:Case fam115 phenopacket.store:SCN2A.PMID_33731876_fam343 biolink:Case fam343 phenopacket.store:SCN2A.PMID_33731876_fam319 biolink:Case fam319 phenopacket.store:SCN2A.PMID_33731876_fam340 biolink:Case fam340 phenopacket.store:SCN2A.PMID_33731876_fam199 biolink:Case fam199 phenopacket.store:SCN2A.PMID_33731876_fam85 biolink:Case fam85 phenopacket.store:SCN2A.PMID_33731876_fam312 biolink:Case fam312 phenopacket.store:SCN2A.PMID_33731876_fam303 biolink:Case fam303 phenopacket.store:SCN2A.PMID_33731876_fam48 biolink:Case fam48 phenopacket.store:SCN2A.PMID_33731876_fam126 biolink:Case fam126 phenopacket.store:SCN2A.PMID_33731876_fam355 biolink:Case fam355 phenopacket.store:SCN2A.PMID_33731876_fam73 biolink:Case fam73 phenopacket.store:SCN2A.PMID_33731876_fam394 biolink:Case fam394 phenopacket.store:SCN2A.PMID_33731876_fam342 biolink:Case fam342 phenopacket.store:SCN2A.PMID_33731876_fam245 biolink:Case fam245 phenopacket.store:SCN2A.PMID_33731876_fam393 biolink:Case fam393 phenopacket.store:SCN2A.PMID_33731876_fam873 biolink:Case fam873 phenopacket.store:SCN2A.PMID_33731876_fam78 biolink:Case fam78 phenopacket.store:SCN2A.PMID_33731876_fam178 biolink:Case fam178 phenopacket.store:SCN2A.PMID_33731876_fam225 biolink:Case fam225 phenopacket.store:SCN2A.PMID_33731876_fam965 biolink:Case fam965 phenopacket.store:SCN2A.PMID_33731876_fam215 biolink:Case fam215 phenopacket.store:SCN2A.PMID_33731876_fam386 biolink:Case fam386 phenopacket.store:SCN2A.PMID_33731876_fam361 biolink:Case fam361 phenopacket.store:SCN2A.PMID_33731876_fam411 biolink:Case fam411 phenopacket.store:SCN2A.PMID_33731876_fam177 biolink:Case fam177 phenopacket.store:SCN2A.PMID_33731876_fam198 biolink:Case fam198 phenopacket.store:SCN2A.PMID_33731876_fam293 biolink:Case fam293 phenopacket.store:SCN2A.PMID_33731876_fam400 biolink:Case fam400 phenopacket.store:SCN2A.PMID_33731876_fam363 biolink:Case fam363 phenopacket.store:SCN2A.PMID_33731876_fam183 biolink:Case fam183 phenopacket.store:SCN2A.PMID_33731876_fam18 biolink:Case fam18 phenopacket.store:SCN2A.PMID_33731876_fam242 biolink:Case fam242 phenopacket.store:SCN2A.PMID_33731876_fam257 biolink:Case fam257 phenopacket.store:SCN2A.PMID_33731876_fam153 biolink:Case fam153 phenopacket.store:SCN2A.PMID_33731876_fam160 biolink:Case fam160 phenopacket.store:SCN2A.PMID_33731876_fam35 biolink:Case fam35 phenopacket.store:SCN2A.PMID_33731876_fam243 biolink:Case fam243 phenopacket.store:SCN2A.PMID_33731876_fam311 biolink:Case fam311 phenopacket.store:SCN2A.PMID_33731876_fam205 biolink:Case fam205 phenopacket.store:SCN2A.PMID_33731876_fam12 biolink:Case fam12 phenopacket.store:SCN2A.PMID_33731876_fam164 biolink:Case fam164 phenopacket.store:SCN2A.PMID_33731876_fam212 biolink:Case fam212 phenopacket.store:SCN2A.PMID_33731876_fam28 biolink:Case fam28 phenopacket.store:SCN2A.PMID_33731876_fam228 biolink:Case fam228 phenopacket.store:SCN2A.PMID_33731876_fam316 biolink:Case fam316 phenopacket.store:SCN2A.PMID_33731876_fam258 biolink:Case fam258 phenopacket.store:SCN2A.PMID_33731876_fam375 biolink:Case fam375 phenopacket.store:SCN2A.PMID_33731876_fam362 biolink:Case fam362 phenopacket.store:SCN2A.PMID_33731876_fam231 biolink:Case fam231 phenopacket.store:SCN2A.PMID_33731876_fam154 biolink:Case fam154 phenopacket.store:SCN2A.PMID_33731876_fam173 biolink:Case fam173 phenopacket.store:SCN2A.PMID_33731876_fam36 biolink:Case fam36 phenopacket.store:SCN2A.PMID_33731876_fam26 biolink:Case fam26 phenopacket.store:SCN2A.PMID_33731876_fam56 biolink:Case fam56 phenopacket.store:SCN2A.PMID_33731876_fam47 biolink:Case fam47 phenopacket.store:SCN2A.PMID_33731876_fam24 biolink:Case fam24 phenopacket.store:SCN2A.PMID_33731876_fam240 biolink:Case fam240 phenopacket.store:SCN2A.PMID_33731876_fam259 biolink:Case fam259 phenopacket.store:SCN2A.PMID_33731876_fam100 biolink:Case fam100 phenopacket.store:SCN2A.PMID_33731876_fam413 biolink:Case fam413 phenopacket.store:SCN2A.PMID_33731876_fam61 biolink:Case fam61 phenopacket.store:SCN2A.PMID_33731876_fam255 biolink:Case fam255 phenopacket.store:SCN2A.PMID_33731876_fam224 biolink:Case fam224 phenopacket.store:SCN2A.PMID_33731876_fam27 biolink:Case fam27 phenopacket.store:SCN2A.PMID_33731876_fam387 biolink:Case fam387 phenopacket.store:SCN2A.PMID_33731876_fam87 biolink:Case fam87 phenopacket.store:SCN2A.PMID_33731876_fam336 biolink:Case fam336 phenopacket.store:SCN2A.PMID_33731876_fam93 biolink:Case fam93 phenopacket.store:SCN2A.PMID_33731876_fam408 biolink:Case fam408 phenopacket.store:SCN2A.PMID_33731876_fam72 biolink:Case fam72 phenopacket.store:SCN2A.PMID_33731876_fam200 biolink:Case fam200 phenopacket.store:SCN2A.PMID_33731876_fam31 biolink:Case fam31 phenopacket.store:SCN2A.PMID_33731876_fam263 biolink:Case fam263 phenopacket.store:SCN2A.PMID_33731876_fam291 biolink:Case fam291 phenopacket.store:SCN2A.PMID_33731876_fam334 biolink:Case fam334 phenopacket.store:SCN2A.PMID_33731876_fam214 biolink:Case fam214 phenopacket.store:SCN2A.PMID_33731876_fam185 biolink:Case fam185 phenopacket.store:SCN2A.PMID_33731876_fam159 biolink:Case fam159 phenopacket.store:SCN2A.PMID_33731876_fam67 biolink:Case fam67 phenopacket.store:SCN2A.PMID_33731876_fam113 biolink:Case fam113 phenopacket.store:SCN2A.PMID_33731876_fam266 biolink:Case fam266 phenopacket.store:SCN2A.PMID_33731876_fam239 biolink:Case fam239 phenopacket.store:SCN2A.PMID_33731876_fam356 biolink:Case fam356 phenopacket.store:SCN2A.PMID_33731876_fam247 biolink:Case fam247 phenopacket.store:SCN2A.PMID_33731876_fam167 biolink:Case fam167 phenopacket.store:SCN2A.PMID_33731876_fam327 biolink:Case fam327 phenopacket.store:SCN2A.PMID_33731876_fam171 biolink:Case fam171 phenopacket.store:SCN2A.PMID_33731876_fam281 biolink:Case fam281 phenopacket.store:SCN2A.PMID_33731876_fam105 biolink:Case fam105 phenopacket.store:SCN2A.PMID_33731876_fam2 biolink:Case fam2 phenopacket.store:SCN2A.PMID_33731876_fam421 biolink:Case fam421 phenopacket.store:SCN2A.PMID_33731876_fam53 biolink:Case fam53 phenopacket.store:SCN2A.PMID_33731876_fam283 biolink:Case fam283 phenopacket.store:SCN2A.PMID_33731876_fam282 biolink:Case fam282 phenopacket.store:SCN2A.PMID_33731876_fam146 biolink:Case fam146 phenopacket.store:SCN2A.PMID_33731876_fam52 biolink:Case fam52 phenopacket.store:SCN2A.PMID_33731876_fam19 biolink:Case fam19 phenopacket.store:SCN2A.PMID_33731876_fam66 biolink:Case fam66 phenopacket.store:SCN2A.PMID_33731876_fam284 biolink:Case fam284 phenopacket.store:SCN2A.PMID_33731876_fam77 biolink:Case fam77 phenopacket.store:SCN2A.PMID_33731876_fam409 biolink:Case fam409 phenopacket.store:SCN2A.PMID_33731876_fam360 biolink:Case fam360 phenopacket.store:SCN2A.PMID_33731876_fam407 biolink:Case fam407 phenopacket.store:SCN2A.PMID_33731876_fam155 biolink:Case fam155 phenopacket.store:SCN2A.PMID_33731876_fam341 biolink:Case fam341 phenopacket.store:SCN2A.PMID_33731876_fam142 biolink:Case fam142 phenopacket.store:SCN2A.PMID_33731876_fam302 biolink:Case fam302 phenopacket.store:SCN2A.PMID_33731876_fam131 biolink:Case fam131 phenopacket.store:SCN2A.PMID_33731876_fam273 biolink:Case fam273 phenopacket.store:SCN2A.PMID_33731876_fam368 biolink:Case fam368 phenopacket.store:SCN2A.PMID_33731876_fam318 biolink:Case fam318 phenopacket.store:SCN2A.PMID_33731876_fam135 biolink:Case fam135 phenopacket.store:SCN2A.PMID_33731876_fam74 biolink:Case fam74 phenopacket.store:SCN2A.PMID_33731876_fam301 biolink:Case fam301 phenopacket.store:SCN2A.PMID_33731876_fam349 biolink:Case fam349 phenopacket.store:SCN2A.PMID_33731876_fam265 biolink:Case fam265 phenopacket.store:SCN2A.PMID_33731876_fam384 biolink:Case fam384 phenopacket.store:SCN2A.PMID_33731876_fam203 biolink:Case fam203 phenopacket.store:SCN2A.PMID_33731876_fam42 biolink:Case fam42 phenopacket.store:SCN2A.PMID_33731876_fam118 biolink:Case fam118 phenopacket.store:SCN2A.PMID_33731876_fam403 biolink:Case fam403 phenopacket.store:SCN2A.PMID_33731876_fam86 biolink:Case fam86 phenopacket.store:SCN2A.PMID_33731876_fam373 biolink:Case fam373 phenopacket.store:SCN2A.PMID_33731876_fam46 biolink:Case fam46 phenopacket.store:SCN2A.PMID_33731876_fam83 biolink:Case fam83 phenopacket.store:SCN2A.PMID_33731876_fam401 biolink:Case fam401 phenopacket.store:SCN2A.PMID_33731876_fam398 biolink:Case fam398 phenopacket.store:SCN2A.PMID_33731876_fam169 biolink:Case fam169 phenopacket.store:SCN2A.PMID_33731876_fam235 biolink:Case fam235 phenopacket.store:SCN2A.PMID_33731876_fam383 biolink:Case fam383 phenopacket.store:SCN2A.PMID_33731876_fam206 biolink:Case fam206 phenopacket.store:SCN2A.PMID_33731876_fam144 biolink:Case fam144 phenopacket.store:SCN2A.PMID_33731876_fam202 biolink:Case fam202 phenopacket.store:SCN2A.PMID_33731876_fam410 biolink:Case fam410 phenopacket.store:SCN2A.PMID_33731876_fam172 biolink:Case fam172 phenopacket.store:SCN2A.PMID_33731876_fam1204 biolink:Case fam1204 phenopacket.store:SCN2A.PMID_33731876_fam60 biolink:Case fam60 phenopacket.store:SCN2A.PMID_33731876_fam379 biolink:Case fam379 phenopacket.store:SCN2A.PMID_33731876_fam252 biolink:Case fam252 phenopacket.store:SCN2A.PMID_33731876_fam226 biolink:Case fam226 phenopacket.store:SCN2A.PMID_33731876_fam184 biolink:Case fam184 phenopacket.store:SCN2A.PMID_33731876_fam161 biolink:Case fam161 phenopacket.store:SCN2A.PMID_33731876_fam89 biolink:Case fam89 phenopacket.store:SCN2A.PMID_33731876_fam276 biolink:Case fam276 phenopacket.store:SCN2A.PMID_33731876_fam90 biolink:Case fam90 phenopacket.store:SCN2A.PMID_33731876_fam136 biolink:Case fam136 phenopacket.store:SCN2A.PMID_33731876_fam14 biolink:Case fam14 phenopacket.store:SCN2A.PMID_33731876_fam81 biolink:Case fam81 phenopacket.store:SCN2A.PMID_33731876_fam30 biolink:Case fam30 phenopacket.store:SCN2A.PMID_33731876_fam127 biolink:Case fam127 phenopacket.store:SCN2A.PMID_33731876_fam54 biolink:Case fam54 phenopacket.store:SCN2A.PMID_33731876_fam377 biolink:Case fam377 phenopacket.store:SCN2A.PMID_33731876_fam227 biolink:Case fam227 phenopacket.store:SCN2A.PMID_33731876_fam274 biolink:Case fam274 phenopacket.store:SCN2A.PMID_33731876_fam16 biolink:Case fam16 phenopacket.store:SCN2A.PMID_33731876_fam23 biolink:Case fam23 phenopacket.store:SCN2A.PMID_33731876_fam88 biolink:Case fam88 phenopacket.store:SCN2A.PMID_33731876_fam7 biolink:Case fam7 phenopacket.store:SCN2A.PMID_33731876_fam417 biolink:Case fam417 phenopacket.store:SCN2A.PMID_33731876_fam147 biolink:Case fam147 phenopacket.store:SCN2A.PMID_33731876_fam62 biolink:Case fam62 phenopacket.store:SCN2A.PMID_33731876_fam179 biolink:Case fam179 phenopacket.store:SCN2A.PMID_33731876_fam395 biolink:Case fam395 phenopacket.store:SCN2A.PMID_33731876_fam404 biolink:Case fam404 phenopacket.store:SCN2A.PMID_33731876_fam385 biolink:Case fam385 phenopacket.store:SCN2A.PMID_33731876_fam10 biolink:Case fam10 phenopacket.store:SCN2A.PMID_33731876_fam190 biolink:Case fam190 phenopacket.store:SCN2A.PMID_33731876_fam221 biolink:Case fam221 phenopacket.store:SCN2A.PMID_33731876_fam250 biolink:Case fam250 phenopacket.store:SCN2A.PMID_33731876_fam376 biolink:Case fam376 phenopacket.store:SCN2A.PMID_33731876_fam294 biolink:Case fam294 phenopacket.store:SCN2A.PMID_33731876_fam145 biolink:Case fam145 phenopacket.store:SCN2A.PMID_33731876_fam82 biolink:Case fam82 phenopacket.store:SCN2A.PMID_33731876_fam124 biolink:Case fam124 phenopacket.store:SCN2A.PMID_33731876_fam279 biolink:Case fam279 phenopacket.store:SCN2A.PMID_33731876_fam13 biolink:Case fam13 phenopacket.store:SCN2A.PMID_33731876_fam94 biolink:Case fam94 phenopacket.store:SCN2A.PMID_33731876_fam230 biolink:Case fam230 phenopacket.store:SCN2A.PMID_33731876_fam197 biolink:Case fam197 phenopacket.store:SCN2A.PMID_33731876_fam95 biolink:Case fam95 phenopacket.store:SCN2A.PMID_33731876_fam6 biolink:Case fam6 phenopacket.store:SCN2A.PMID_33731876_fam17 biolink:Case fam17 phenopacket.store:SCN2A.PMID_33731876_fam22 biolink:Case fam22 phenopacket.store:SCN2A.PMID_33731876_fam132 biolink:Case fam132 phenopacket.store:SCN2A.PMID_33731876_fam325 biolink:Case fam325 phenopacket.store:SCN2A.PMID_33731876_fam256 biolink:Case fam256 phenopacket.store:SCN2A.PMID_33731876_fam15 biolink:Case fam15 phenopacket.store:SCN2A.PMID_33731876_fam1 biolink:Case fam1 phenopacket.store:SCN2A.PMID_33731876_fam125 biolink:Case fam125 phenopacket.store:SCN2A.PMID_33731876_fam1181 biolink:Case fam1181 phenopacket.store:SCN2A.PMID_33731876_fam381 biolink:Case fam381 phenopacket.store:SCN2A.PMID_33731876_fam189 biolink:Case fam189 phenopacket.store:SCN2A.PMID_33731876_fam219 biolink:Case fam219 phenopacket.store:SCN2A.PMID_33731876_fam108 biolink:Case fam108 phenopacket.store:SCN2A.PMID_33731876_fam372 biolink:Case fam372 phenopacket.store:SCN2A.PMID_33731876_fam204 biolink:Case fam204 phenopacket.store:SCN2A.PMID_33731876_fam382 biolink:Case fam382 phenopacket.store:SCN2A.PMID_33731876_fam391 biolink:Case fam391 phenopacket.store:SCN2A.PMID_33731876_fam133 biolink:Case fam133 phenopacket.store:SCN2A.PMID_33731876_fam168 biolink:Case fam168 phenopacket.store:SCN2A.PMID_33731876_fam287 biolink:Case fam287 phenopacket.store:SCN2A.PMID_33731876_fam149 biolink:Case fam149 phenopacket.store:SCN2A.PMID_33731876_fam122 biolink:Case fam122 phenopacket.store:SCN2A.PMID_33731876_fam397 biolink:Case fam397 phenopacket.store:SCN2A.PMID_33731876_fam299 biolink:Case fam299 phenopacket.store:SCN2A.PMID_33731876_fam420 biolink:Case fam420 phenopacket.store:SCN2A.PMID_33731876_fam213 biolink:Case fam213 phenopacket.store:SCN2A.PMID_33731876_fam49 biolink:Case fam49 phenopacket.store:SCN2A.PMID_33731876_fam84 biolink:Case fam84 phenopacket.store:SCN2A.PMID_33731876_fam68 biolink:Case fam68 phenopacket.store:SCN2A.PMID_33731876_fam51 biolink:Case fam51 phenopacket.store:SCN2A.PMID_33731876_fam217 biolink:Case fam217 phenopacket.store:SCN2A.PMID_33731876_fam289 biolink:Case fam289 phenopacket.store:SCN2A.PMID_33731876_fam365 biolink:Case fam365 phenopacket.store:SCN2A.PMID_33731876_fam170 biolink:Case fam170 phenopacket.store:SCN2A.PMID_33731876_fam307 biolink:Case fam307 phenopacket.store:SCN2A.PMID_33731876_fam139 biolink:Case fam139 phenopacket.store:SCN2A.PMID_33731876_fam277 biolink:Case fam277 phenopacket.store:SCN2A.PMID_33731876_fam402 biolink:Case fam402 phenopacket.store:SCN2A.PMID_33731876_fam134 biolink:Case fam134 phenopacket.store:SCN2A.PMID_33731876_fam310 biolink:Case fam310 phenopacket.store:SCN2A.PMID_33731876_fam175 biolink:Case fam175 phenopacket.store:SCN2A.PMID_33731876_fam91 biolink:Case fam91 phenopacket.store:SCN2A.PMID_33731876_fam156 biolink:Case fam156 phenopacket.store:SCN2A.PMID_33731876_fam65 biolink:Case fam65 phenopacket.store:SCN2A.PMID_33731876_fam350 biolink:Case fam350 phenopacket.store:SCN2A.PMID_33731876_fam34 biolink:Case fam34 phenopacket.store:SCN2A.PMID_33731876_fam99 biolink:Case fam99 phenopacket.store:SCN2A.PMID_33731876_fam306 biolink:Case fam306 phenopacket.store:SCN2A.PMID_33731876_fam207 biolink:Case fam207 phenopacket.store:SCN2A.PMID_33731876_fam888 biolink:Case fam888 phenopacket.store:SCN2A.PMID_33731876_fam370 biolink:Case fam370 phenopacket.store:SCN2A.PMID_33731876_fam369 biolink:Case fam369 phenopacket.store:SCN2A.PMID_33731876_fam249 biolink:Case fam249 phenopacket.store:SCN2A.PMID_33731876_fam119 biolink:Case fam119 phenopacket.store:SCN2A.PMID_33731876_fam117 biolink:Case fam117 phenopacket.store:SCN2A.PMID_33731876_fam422 biolink:Case fam422 phenopacket.store:SCN2A.PMID_33731876_fam366 biolink:Case fam366 phenopacket.store:SCN2A.PMID_33731876_fam234 biolink:Case fam234 phenopacket.store:SCN2A.PMID_33731876_fam176 biolink:Case fam176 phenopacket.store:SCN2A.PMID_33731876_fam138 biolink:Case fam138 phenopacket.store:SCN2A.PMID_33731876_fam248 biolink:Case fam248 phenopacket.store:SCN2A.PMID_33731876_fam123 biolink:Case fam123 phenopacket.store:SCN2A.PMID_33731876_fam157 biolink:Case fam157 phenopacket.store:SCN2A.PMID_33731876_fam32 biolink:Case fam32 phenopacket.store:SCN2A.PMID_33731876_fam378 biolink:Case fam378 phenopacket.store:SCN2A.PMID_33731876_fam358 biolink:Case fam358 phenopacket.store:SCN2A.PMID_33731876_fam216 biolink:Case fam216 phenopacket.store:SCN2A.PMID_33731876_fam188 biolink:Case fam188 phenopacket.store:SCN2A.PMID_33731876_fam223 biolink:Case fam223 phenopacket.store:SCN2A.PMID_33731876_fam220 biolink:Case fam220 phenopacket.store:SCN2A.PMID_33731876_fam359 biolink:Case fam359 phenopacket.store:SCN2A.PMID_33731876_fam419 biolink:Case fam419 phenopacket.store:SCN2A.PMID_33731876_fam405 biolink:Case fam405 phenopacket.store:SCN2A.PMID_33731876_fam129 biolink:Case fam129 phenopacket.store:SCN2A.PMID_33731876_fam412 biolink:Case fam412 phenopacket.store:SCN2A.PMID_33731876_fam238 biolink:Case fam238 phenopacket.store:SCN2A.PMID_33731876_fam323 biolink:Case fam323 phenopacket.store:SCN2A.PMID_33731876_fam181 biolink:Case fam181 phenopacket.store:SCN2A.PMID_33731876_fam75 biolink:Case fam75 phenopacket.store:SCN2A.PMID_33731876_fam270 biolink:Case fam270 phenopacket.store:SCN2A.PMID_33731876_fam80 biolink:Case fam80 phenopacket.store:SCN2A.PMID_33731876_fam1138 biolink:Case fam1138 phenopacket.store:SCN2A.PMID_33731876_fam180 biolink:Case fam180 phenopacket.store:SCN2A.PMID_33731876_fam152 biolink:Case fam152 phenopacket.store:SCN2A.PMID_33731876_fam140 biolink:Case fam140 phenopacket.store:SCN2A.PMID_33731876_fam70 biolink:Case fam70 phenopacket.store:SCN2A.PMID_33731876_fam320 biolink:Case fam320 phenopacket.store:SCN2A.PMID_33731876_fam120 biolink:Case fam120 phenopacket.store:SCN2A.PMID_33731876_fam191 biolink:Case fam191 phenopacket.store:SCN2A.PMID_33731876_fam165 biolink:Case fam165 phenopacket.store:SCN2A.PMID_33731876_fam103 biolink:Case fam103 phenopacket.store:SCN2A.PMID_33731876_fam107 biolink:Case fam107 phenopacket.store:SCN2A.PMID_33731876_fam43 biolink:Case fam43 phenopacket.store:SCN2A.PMID_33731876_fam194 biolink:Case fam194 phenopacket.store:SCN2A.PMID_33731876_fam328 biolink:Case fam328 phenopacket.store:SCN2A.PMID_33731876_fam37 biolink:Case fam37 phenopacket.store:SCN2A.PMID_33731876_fam158 biolink:Case fam158 phenopacket.store:SCN2A.PMID_33731876_fam97 biolink:Case fam97 phenopacket.store:SCN2A.PMID_33731876_fam201 biolink:Case fam201 phenopacket.store:SCN2A.PMID_33731876_fam210 biolink:Case fam210 phenopacket.store:SCN2A.PMID_33731876_fam237 biolink:Case fam237 phenopacket.store:SCN2A.PMID_33731876_fam275 biolink:Case fam275 phenopacket.store:SCN2A.PMID_33731876_fam8 biolink:Case fam8 phenopacket.store:SCN2A.PMID_33731876_fam11 biolink:Case fam11 phenopacket.store:SCN2A.PMID_33731876_fam58 biolink:Case fam58 phenopacket.store:SCN2A.PMID_33731876_fam50 biolink:Case fam50 phenopacket.store:SCN2A.PMID_33731876_fam59 biolink:Case fam59 phenopacket.store:SCN2A.PMID_33731876_fam278 biolink:Case fam278 phenopacket.store:SCN2A.PMID_33731876_fam106 biolink:Case fam106 phenopacket.store:SCN2A.PMID_33731876_fam40 biolink:Case fam40 phenopacket.store:SCN2A.PMID_33731876_fam399 biolink:Case fam399 phenopacket.store:SCN2A.PMID_33731876_fam262 biolink:Case fam262 phenopacket.store:SCN2A.PMID_33731876_fam151 biolink:Case fam151 phenopacket.store:SCN2A.PMID_33731876_fam271 biolink:Case fam271 phenopacket.store:SCN2A.PMID_33731876_fam396 biolink:Case fam396 phenopacket.store:SCN2A.PMID_33731876_fam280 biolink:Case fam280 phenopacket.store:SCN2A.PMID_33731876_fam418 biolink:Case fam418 phenopacket.store:SCN2A.PMID_33731876_fam236 biolink:Case fam236 phenopacket.store:SCN2A.PMID_33731876_fam241 biolink:Case fam241 phenopacket.store:SCN2A.PMID_33731876_fam111 biolink:Case fam111 phenopacket.store:SCN2A.PMID_33731876_fam233 biolink:Case fam233 phenopacket.store:SCN2A.PMID_33731876_fam290 biolink:Case fam290 phenopacket.store:SCN2A.PMID_33731876_fam121 biolink:Case fam121 phenopacket.store:SCN2A.PMID_33731876_fam174 biolink:Case fam174 phenopacket.store:SCN2A.PMID_33731876_fam209 biolink:Case fam209 phenopacket.store:SCN2A.PMID_33731876_fam300 biolink:Case fam300 phenopacket.store:SCN2A.PMID_33731876_fam269 biolink:Case fam269 phenopacket.store:SCN2A.PMID_33731876_fam130 biolink:Case fam130 phenopacket.store:SCN2A.PMID_33731876_fam150 biolink:Case fam150 phenopacket.store:SCN2A.PMID_33731876_fam346 biolink:Case fam346 phenopacket.store:SCN2A.PMID_33731876_fam416 biolink:Case fam416 phenopacket.store:SCN2A.PMID_33731876_fam261 biolink:Case fam261 phenopacket.store:SCN2A.PMID_33731876_fam187 biolink:Case fam187 phenopacket.store:SCN2A.PMID_33731876_fam71 biolink:Case fam71 phenopacket.store:SCN2A.PMID_33731876_fam21 biolink:Case fam21 phenopacket.store:SCN2A.PMID_33731876_fam352 biolink:Case fam352 phenopacket.store:SCN2A.PMID_33731876_fam253 biolink:Case fam253 phenopacket.store:SCN2A.PMID_33731876_fam112 biolink:Case fam112 phenopacket.store:SCN2A.PMID_33731876_fam267 biolink:Case fam267 phenopacket.store:SCN2A.PMID_33731876_fam163 biolink:Case fam163 phenopacket.store:SCN2A.PMID_33731876_fam182 biolink:Case fam182 phenopacket.store:SCN2A.PMID_33731876_fam109 biolink:Case fam109 phenopacket.store:SCN2A.PMID_33731876_fam254 biolink:Case fam254 phenopacket.store:SCN2A.PMID_33731876_fam64 biolink:Case fam64 phenopacket.store:SCN2A.PMID_33731876_fam330 biolink:Case fam330 phenopacket.store:SCN2A.PMID_33731876_fam33 biolink:Case fam33 phenopacket.store:SCN2A.PMID_33731876_fam251 biolink:Case fam251 phenopacket.store:SCN2A.PMID_33731876_fam39 biolink:Case fam39 phenopacket.store:SCN2A.PMID_33731876_fam1075 biolink:Case fam1075 phenopacket.store:SCN2A.PMID_33731876_fam260 biolink:Case fam260 phenopacket.store:SCN2A.PMID_33731876_fam364 biolink:Case fam364 phenopacket.store:SCN2A.PMID_33731876_fam298 biolink:Case fam298 phenopacket.store:SCN2A.PMID_33731876_fam347 biolink:Case fam347 phenopacket.store:SCN2A.PMID_33731876_fam38 biolink:Case fam38 phenopacket.store:SCN2A.PMID_33731876_fam317 biolink:Case fam317 phenopacket.store:SCN2A.PMID_33731876_fam392 biolink:Case fam392 phenopacket.store:SCN2A.PMID_33731876_fam128 biolink:Case fam128 phenopacket.store:SCN2A.PMID_33731876_fam4 biolink:Case fam4 phenopacket.store:SCN2A.PMID_33731876_fam324 biolink:Case fam324 phenopacket.store:SCN2A.PMID_33731876_fam351 biolink:Case fam351 phenopacket.store:SCN2A.PMID_33731876_fam326 biolink:Case fam326 phenopacket.store:SCN2A.PMID_33731876_fam101 biolink:Case fam101 phenopacket.store:SCN2A.PMID_33731876_fam229 biolink:Case fam229 phenopacket.store:SCN2A.PMID_33731876_fam79 biolink:Case fam79 phenopacket.store:SCN2A.PMID_33731876_fam63 biolink:Case fam63 phenopacket.store:SCN2A.PMID_33731876_fam195 biolink:Case fam195 phenopacket.store:SCN2A.PMID_33731876_fam41 biolink:Case fam41 phenopacket.store:SCN2A.PMID_33731876_fam286 biolink:Case fam286 phenopacket.store:SCN2A.PMID_33731876_fam102 biolink:Case fam102 phenopacket.store:SCN2A.PMID_33731876_fam114 biolink:Case fam114 phenopacket.store:SCN2A.PMID_33731876_fam264 biolink:Case fam264 phenopacket.store:SCN2A.PMID_33731876_fam337 biolink:Case fam337 phenopacket.store:SCN2A.PMID_33731876_fam232 biolink:Case fam232 phenopacket.store:SCN2A.PMID_33731876_fam380 biolink:Case fam380 phenopacket.store:SCN2A.PMID_33731876_fam137 biolink:Case fam137 phenopacket.store:SCN2A.PMID_33731876_fam104 biolink:Case fam104 phenopacket.store:SCN2A.PMID_33731876_fam292 biolink:Case fam292 phenopacket.store:SCN2A.PMID_33731876_fam96 biolink:Case fam96 phenopacket.store:SCN2A.PMID_33731876_fam193 biolink:Case fam193 phenopacket.store:SCN2A.PMID_33731876_fam192 biolink:Case fam192 phenopacket.store:SCN2A.PMID_33731876_fam76 biolink:Case fam76 phenopacket.store:SCN2A.PMID_33731876_fam25 biolink:Case fam25 phenopacket.store:SCN2A.PMID_33731876_fam196 biolink:Case fam196 phenopacket.store:SCN2A.PMID_33731876_fam371 biolink:Case fam371 phenopacket.store:SCN2A.PMID_33731876_fam344 biolink:Case fam344 phenopacket.store:SCN2A.PMID_33731876_fam345 biolink:Case fam345 phenopacket.store:SCN2A.PMID_33731876_fam143 biolink:Case fam143 phenopacket.store:SCN2A.PMID_33731876_fam333 biolink:Case fam333 phenopacket.store:SCN2A.PMID_33731876_fam389 biolink:Case fam389 phenopacket.store:SCN2A.PMID_33731876_fam29 biolink:Case fam29 phenopacket.store:SCN2A.PMID_33731876_fam5 biolink:Case fam5 phenopacket.store:SCN2A.PMID_33731876_fam348 biolink:Case fam348 phenopacket.store:SCN2A.PMID_33731876_fam20 biolink:Case fam20 phenopacket.store:SCN2A.PMID_33731876_fam44 biolink:Case fam44 phenopacket.store:SCN2A.PMID_33731876_fam367 biolink:Case fam367 phenopacket.store:SCN2A.PMID_33731876_fam166 biolink:Case fam166 phenopacket.store:SCN2A.PMID_33731876_fam374 biolink:Case fam374 phenopacket.store:SCN2A.PMID_33731876_fam600 biolink:Case fam600 phenopacket.store:SCN2A.PMID_33731876_fam116 biolink:Case fam116 phenopacket.store:SCN2A.PMID_33731876_fam148 biolink:Case fam148 phenopacket.store:SCN2A.PMID_33731876_fam92 biolink:Case fam92 phenopacket.store:SCN2A.PMID_33731876_fam388 biolink:Case fam388 phenopacket.store:SCN2A.PMID_33731876_fam415 biolink:Case fam415 phenopacket.store:SCN2A.PMID_33731876_fam9 biolink:Case fam9 phenopacket.store:SCN2A.PMID_33731876_fam304 biolink:Case fam304 phenopacket.store:SCN2A.PMID_33731876_fam222 biolink:Case fam222 phenopacket.store:SCN5A.PMID_31590245_proband biolink:Case proband MALE phenopacket.store:SCN5A.PMID_11410597_proband biolink:Case proband MALE phenopacket.store:SCO2.PMID_25525168_HM640 biolink:Case HM640 FEMALE phenopacket.store:SCO2.PMID_15499950_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:SCO2.PMID_15499950_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:SCO2.PMID_31844624_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:SCO2.PMID_35112411_Patient_5_Index_II_1 biolink:Case Patient 5 Index II.1 MALE phenopacket.store:SCO2.PMID_35112411_Patient_6_brother_II_4 biolink:Case Patient 6 brother II.4 MALE phenopacket.store:SCO2.PMID_23364397_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:SCO2.PMID_10805329_patient_2 biolink:Case patient 2 FEMALE phenopacket.store:SCO2.PMID_15499950_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:SCO2.PMID_25525168_HM789 biolink:Case HM789 FEMALE phenopacket.store:SCO2.PMID_23643385_CHP_162 biolink:Case CHP-162 phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B2 biolink:Case Family B patient B2 MALE phenopacket.store:SCO2.PMID_15499950_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:SCO2.PMID_23407777_infant_girl biolink:Case infant girl FEMALE phenopacket.store:SCO2.PMID_23643385_family_CHP_6_IV_3 biolink:Case family CHP-6 IV:3 phenopacket.store:SCO2.PMID_31844624_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:SCO2.PMID_20159436_Clinical_Report biolink:Case Clinical Report MALE phenopacket.store:SCO2.PMID_15499950_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:SCO2.PMID_23364397_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:SCO2.PMID_10805329_patient_3 biolink:Case patient 3 FEMALE phenopacket.store:SCO2.PMID_10749987_family_A_index biolink:Case family A index MALE phenopacket.store:SCO2.PMID_23838601_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:SCO2.PMID_17187620_child biolink:Case child FEMALE phenopacket.store:SCO2.PMID_19353847_patient biolink:Case patient FEMALE phenopacket.store:SCO2.PMID_29351582_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:SCO2.PMID_23364397_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:SCO2.PMID_18924171_Clinical_report biolink:Case Clinical report MALE phenopacket.store:SCO2.PMID_29351582_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:SCO2.PMID_14994243_Clinical_Report biolink:Case Clinical Report MALE phenopacket.store:SCO2.PMID_16765077_Patient biolink:Case Patient MALE phenopacket.store:SCO2.PMID_15499950_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:SCO2.PMID_23643385_CHP_150 biolink:Case CHP-150 phenopacket.store:SCO2.PMID_10805329_patient_1 biolink:Case patient 1 MALE phenopacket.store:SCO2.PMID_23643385_CHP_84 biolink:Case CHP-84 phenopacket.store:SCO2.PMID_34746378_Case_Presentation biolink:Case Case Presentation MALE phenopacket.store:SCO2.PMID_15210538_Individual_II_2 biolink:Case Individual II-2 FEMALE phenopacket.store:SCO2.PMID_10749987_Family_B_patient_B1 biolink:Case Family B patient B1 MALE phenopacket.store:SEC61A1.PMID_33185949_Case_Report biolink:Case Case Report FEMALE phenopacket.store:SEC61A1.PMID_27392076_1_III_7 biolink:Case 1-III:7 MALE phenopacket.store:SEC61A1.PMID_32325141_index_patient biolink:Case index patient FEMALE phenopacket.store:SEC61A1.PMID_27392076_2_III_1 biolink:Case 2-III:1 FEMALE phenopacket.store:SEC61A1.PMID_28782633_Family_1_14_year_old_male_P8 biolink:Case Family 1 14-year-old male P8 MALE phenopacket.store:SEC61A1.PMID_28782633_Family_1_21_year_old_daughter_P5 biolink:Case Family 1 21-year-old daughter P5 FEMALE phenopacket.store:SEC61A1.PMID_28782633_Family_II_patient_II_P3 biolink:Case Family II patient II.P3 MALE phenopacket.store:SEC61A1.PMID_28782633_Family_1_8_year_old_daughter_P10 biolink:Case Family 1 8-year-old daughter P10 FEMALE phenopacket.store:SEC61A1.PMID_28782633_Family_1_24_year_old_son_P4 biolink:Case Family 1 24-year-old son P4 MALE phenopacket.store:SEC61A1.PMID_27392076_1_III_4 biolink:Case 1-III:4 MALE phenopacket.store:SEC61A1.PMID_28782633_Family_1_20_year_old_son_P6 biolink:Case Family 1 20-year-old son P6 MALE phenopacket.store:SEC61A1.PMID_27392076_2_II_2 biolink:Case 2-II:2 MALE phenopacket.store:SEC61A1.PMID_28782633_Family_1_P1_father biolink:Case Family 1 P1 (father) MALE phenopacket.store:SEC61A1.PMID_28782633_Family_II_grandmother_P1 biolink:Case Family II grandmother P1 FEMALE phenopacket.store:SEC61A1.PMID_27392076_1_III_5 biolink:Case 1-III:5 FEMALE phenopacket.store:SEC61A1.PMID_28782633_Family_1_17_year_old_male_P7 biolink:Case Family 1 17-year-old male P7 MALE phenopacket.store:SEC61A1.PMID_28782633_Family_1_P3_26_year_old_son biolink:Case Family 1 P3 26-year-old son MALE phenopacket.store:SEC61A1.PMID_28782633_Family_1_11_year_old_son_P9 biolink:Case Family 1 11-year-old son P9 MALE phenopacket.store:SEC61A1.PMID_39135939_patient biolink:Case patient FEMALE phenopacket.store:SERAC1.PMID_31251474_proband biolink:Case proband MALE phenopacket.store:SETBP1.PMID_29333303_proposita biolink:Case proposita FEMALE phenopacket.store:SETD2.PMID_31643139_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:SETD2.PMID_27479843_Patient_716 biolink:Case Patient 716 MALE phenopacket.store:SETD2.PMID_37372360_P18 biolink:Case P18 MALE phenopacket.store:SETD2.PMID_31643139_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:SETD2.PMID_33766796_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:SETD2.PMID_37372360_P14 biolink:Case P14 FEMALE phenopacket.store:SETD2.PMID_37372360_P8 biolink:Case P8 MALE phenopacket.store:SETD2.PMID_37372360_P7 biolink:Case P7 MALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_8 biolink:Case Group 1 Patient 8 FEMALE phenopacket.store:SETD2.PMID_37372360_P16 biolink:Case P16 MALE phenopacket.store:SETD2.PMID_37025455_proband biolink:Case proband MALE phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_3 biolink:Case Group 2 Patient 3 FEMALE phenopacket.store:SETD2.PMID_27317772_Case_ID_T56 biolink:Case Case ID T56 MALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_10 biolink:Case Group 1 Patient 10 MALE phenopacket.store:SETD2.PMID_37372360_P17 biolink:Case P17 MALE phenopacket.store:SETD2.PMID_31643139_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_11 biolink:Case Group 1 Patient 11 FEMALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_4 biolink:Case Group 1 Patient 4 FEMALE phenopacket.store:SETD2.PMID_37372360_P10 biolink:Case P10 MALE phenopacket.store:SETD2.PMID_29681085_Case_1 biolink:Case Case 1 MALE phenopacket.store:SETD2.PMID_37372360_P15 biolink:Case P15 MALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_3 biolink:Case Group 1 Patient 3 MALE phenopacket.store:SETD2.PMID_31643139_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_2 biolink:Case Group 2 Patient 2 MALE phenopacket.store:SETD2.PMID_37372360_P13 biolink:Case P13 MALE phenopacket.store:SETD2.PMID_24852293_Proband_1 biolink:Case Proband 1 FEMALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_6 biolink:Case Group 1 Patient 6 FEMALE phenopacket.store:SETD2.PMID_27479843_Patient_162 biolink:Case Patient 162 MALE phenopacket.store:SETD2.PMID_33248444_Case_Description biolink:Case Case Description MALE phenopacket.store:SETD2.PMID_33766796_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:SETD2.PMID_26084711_proband biolink:Case proband FEMALE phenopacket.store:SETD2.PMID_24852293_Proband_2 biolink:Case Proband 2 MALE phenopacket.store:SETD2.PMID_29681085_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_2 biolink:Case Group 1 Patient 2 MALE phenopacket.store:SETD2.PMID_37372360_P9 biolink:Case P9 FEMALE phenopacket.store:SETD2.PMID_37372360_P2 biolink:Case P2 MALE phenopacket.store:SETD2.PMID_37372360_P12 biolink:Case P12 FEMALE phenopacket.store:SETD2.PMID_37372360_P11 biolink:Case P11 FEMALE phenopacket.store:SETD2.PMID_32710489_Group_2_Patient_1 biolink:Case Group 2 Patient 1 MALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_9 biolink:Case Group 1 Patient 9 FEMALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_5 biolink:Case Group 1 Patient 5 FEMALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_1 biolink:Case Group 1 Patient 1 MALE phenopacket.store:SETD2.PMID_37372360_P1 biolink:Case P1 MALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_7 biolink:Case Group 1 Patient 7 MALE phenopacket.store:SETD2.PMID_32710489_Group_1_Patient_12 biolink:Case Group 1 Patient 12 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_J_2 biolink:Case individual J-2 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_O_1 biolink:Case individual O-1 MALE phenopacket.store:SF3B4.PMID_22541558_individual_G_1 biolink:Case individual G-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_O_2 biolink:Case individual O-2 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_A_1 biolink:Case individual A-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_E_1 biolink:Case individual E-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_R_1 biolink:Case individual R-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_F_1 biolink:Case individual F-1 MALE phenopacket.store:SF3B4.PMID_22541558_individual_S_1 biolink:Case individual S-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_Q_1 biolink:Case individual Q-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_L_1 biolink:Case individual L-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_H_1 biolink:Case individual H-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_F_2 biolink:Case individual F-2 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_M_2 biolink:Case individual M-2 MALE phenopacket.store:SF3B4.PMID_22541558_individual_C_1 biolink:Case individual C-1 MALE phenopacket.store:SF3B4.PMID_22541558_individual_T_1 biolink:Case individual T-1 MALE phenopacket.store:SF3B4.PMID_22541558_individual_M_1 biolink:Case individual M-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_K_1 biolink:Case individual K-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_I_1 biolink:Case individual I-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_R_2 biolink:Case individual R-2 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_D_1 biolink:Case individual D-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_B_1 biolink:Case individual B-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_N_1 biolink:Case individual N-1 FEMALE phenopacket.store:SF3B4.PMID_22541558_individual_M_3 biolink:Case individual M-3 MALE phenopacket.store:SF3B4.PMID_22541558_individual_P_1 biolink:Case individual P-1 MALE phenopacket.store:SF3B4.PMID_22541558_individual_J_1 biolink:Case individual J-1 MALE phenopacket.store:SHARPIN.PMID_38609546_patient_P2 biolink:Case patient P2 FEMALE phenopacket.store:SHARPIN.PMID_38609546_patient_P1 biolink:Case patient P1 MALE phenopacket.store:SKIC3.PMID_28292286_Affected_brother biolink:Case Affected brother MALE phenopacket.store:SKIC3.PMID_28292286_index_patient biolink:Case index patient MALE phenopacket.store:SLC19A1.PMID_36745868_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:SLC19A1.PMID_36517554_patient_1 biolink:Case patient 1 MALE phenopacket.store:SLC19A1.PMID_36745868_Patient_1_ biolink:Case Patient 1 MALE phenopacket.store:SLC19A1.PMID_36517554_patient_2 biolink:Case patient 2 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_9 biolink:Case Family B III.9 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_2 biolink:Case Family B III.2 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_3 biolink:Case Family A III.3 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_5 biolink:Case Family A II.5 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_A_I_7 biolink:Case Family A I.7 MALE phenopacket.store:SLC32A1.PMID_36073542_individual_2 biolink:Case individual 2 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_3 biolink:Case Family F II.3 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_2 biolink:Case Family E II.2 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_1 biolink:Case Family A II.1 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_14 biolink:Case Family B III.14 MALE phenopacket.store:SLC32A1.PMID_36073542_individual_3 biolink:Case individual 3 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_15 biolink:Case Family B III.15 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_2 biolink:Case Family H III.2 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_C_I_2 biolink:Case Family C I.2 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_6 biolink:Case Family A III.6 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_2 biolink:Case Family G II.2 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_17 biolink:Case Family B III.17 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_D_III_1 biolink:Case Family D III.1 FEMALE phenopacket.store:SLC32A1.PMID_36073542_individual_4 biolink:Case individual 4 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_E_II_1 biolink:Case Family E II.1 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_2 biolink:Case Family A II.2 FEMALE phenopacket.store:SLC32A1.PMID_36073542_individual_1 biolink:Case individual 1 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_1 biolink:Case Family G II.1 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_D_II_2 biolink:Case Family D II.2 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_A_III_9 biolink:Case Family A III.9 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_H_III_1 biolink:Case Family H III.1 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_F_II_4 biolink:Case Family F II.4 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_C_III_1 biolink:Case Family C III.1 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_H_I_4 biolink:Case Family H I.4 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_2 biolink:Case Family B II.2 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_A_II_4 biolink:Case Family A II.4 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_H_II_12 biolink:Case Family H II.12 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_C_II_2 biolink:Case Family C II.2 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_B_II_4 biolink:Case Family B II.4 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_5 biolink:Case Family B III.5 FEMALE phenopacket.store:SLC32A1.PMID_34038384_Family_G_1_10 biolink:Case Family G 1.10 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_G_II_4 biolink:Case Family G II.4 MALE phenopacket.store:SLC32A1.PMID_34038384_Family_B_III_1 biolink:Case Family B III.1 FEMALE phenopacket.store:SLC35C1.PMID_24403049_Proband_1 biolink:Case Proband 1 MALE phenopacket.store:SLC35C1.PMID_24403049_Proband_2 biolink:Case Proband 2 MALE phenopacket.store:SLC45A2.PMID_36553465_P16 biolink:Case P16 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P19 biolink:Case P19 MALE phenopacket.store:SLC45A2.PMID_36553465_P13 biolink:Case P13 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P21 biolink:Case P21 MALE phenopacket.store:SLC45A2.PMID_36553465_P20 biolink:Case P20 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P11 biolink:Case P11 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P7 biolink:Case P7 MALE phenopacket.store:SLC45A2.PMID_36553465_P9 biolink:Case P9 MALE phenopacket.store:SLC45A2.PMID_36553465_P27 biolink:Case P27 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P26 biolink:Case P26 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P5 biolink:Case P5 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P23 biolink:Case P23 MALE phenopacket.store:SLC45A2.PMID_36553465_P25 biolink:Case P25 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P24 biolink:Case P24 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P29 biolink:Case P29 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P30 biolink:Case P30 MALE phenopacket.store:SLC45A2.PMID_36553465_P1 biolink:Case P1 MALE phenopacket.store:SLC45A2.PMID_36553465_P17 biolink:Case P17 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P14 biolink:Case P14 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P22 biolink:Case P22 MALE phenopacket.store:SLC45A2.PMID_36553465_P18 biolink:Case P18 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P4 biolink:Case P4 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P8 biolink:Case P8 MALE phenopacket.store:SLC45A2.PMID_36553465_P15 biolink:Case P15 MALE phenopacket.store:SLC45A2.PMID_36553465_P12 biolink:Case P12 MALE phenopacket.store:SLC45A2.PMID_36553465_P6 biolink:Case P6 MALE phenopacket.store:SLC45A2.PMID_36553465_P3 biolink:Case P3 MALE phenopacket.store:SLC45A2.PMID_36553465_P28 biolink:Case P28 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P2 biolink:Case P2 FEMALE phenopacket.store:SLC45A2.PMID_36553465_P10 biolink:Case P10 FEMALE phenopacket.store:SLC4A1.PMID_9312167_A:II:5 biolink:Case A:II:5 FEMALE phenopacket.store:SLC4A1.PMID_9312167_B:I:4 biolink:Case B:I:4 FEMALE phenopacket.store:SLC4A1.PMID_9312167_C:II:2 biolink:Case C:II:2 MALE phenopacket.store:SLC4A1.PMID_8282779_III/2 biolink:Case III/2 MALE phenopacket.store:SLC4A1.PMID_8282779_II/1 biolink:Case II/1 FEMALE phenopacket.store:SLC4A1.PMID_9312167_A:II:9 biolink:Case A:II:9 MALE phenopacket.store:SLC4A1.PMID_9312167_C:I:1 biolink:Case C:I:1 MALE phenopacket.store:SLC4A1.PMID_9312167_A:II:3 biolink:Case A:II:3 MALE phenopacket.store:SLC4A1.PMID_9312167_A:I:2 biolink:Case A:I:2 FEMALE phenopacket.store:SLC4A1.PMID_10571775_KSN-II-1 biolink:Case KSN-II-1 FEMALE phenopacket.store:SLC4A1.PMID_8282779_I/1 biolink:Case I/1 FEMALE phenopacket.store:SLC4A1.PMID_9312167_D:II:2 biolink:Case D:II:2 FEMALE phenopacket.store:SLC4A1.PMID_9312167_B:II:4 biolink:Case B:II:4 MALE phenopacket.store:SLC4A1.PMID_9312167_B:II:2 biolink:Case B:II:2 FEMALE phenopacket.store:SLC4A1.PMID_20799361_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:SLC4A1.PMID_9312167_A:III:2 biolink:Case A:III:2 FEMALE phenopacket.store:SLC4A1.PMID_20799361_Patient_1 biolink:Case Patient 1 phenopacket.store:SLC4A1.PMID_9854053_II:2 biolink:Case II:2 MALE phenopacket.store:SLC4A1.PMID_9312167_D:I:1 biolink:Case D:I:1 MALE phenopacket.store:SLC4A1.PMID_9312167_A:I:3 biolink:Case A:I:3 FEMALE phenopacket.store:SLC4A1.PMID_9854053_II:3 biolink:Case II:3 FEMALE phenopacket.store:SLC4A1.PMID_9312167_A:I:1 biolink:Case A:I:1 FEMALE phenopacket.store:SLC4A1.PMID_10571775_YAT-II-1 biolink:Case YAT-II-1 MALE phenopacket.store:SLC4A1.PMID_10942416_Patient biolink:Case Patient FEMALE phenopacket.store:SLC4A1.PMID_20015879_Patient biolink:Case Patient MALE phenopacket.store:SLC4A1.PMID_8704215_proband_18y biolink:Case proband_18y MALE phenopacket.store:SLC4A1.PMID_9312167_B:II:3 biolink:Case B:II:3 FEMALE phenopacket.store:SLC4A1.PMID_36463227_case biolink:Case case MALE phenopacket.store:SLC4A1.PMID_9312167_A:III:1 biolink:Case A:III:1 MALE phenopacket.store:SLC4A1.PMID_9312167_A:II:8 biolink:Case A:II:8 MALE phenopacket.store:SLC4A1.PMID_9312167_A:II:6 biolink:Case A:II:6 MALE phenopacket.store:SLC4A1.PMID_8282779_III/I biolink:Case III/I FEMALE phenopacket.store:SLC4A1.PMID_8282779_II/2 biolink:Case II/2 FEMALE phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P8 biolink:Case Family 4 individual P8 FEMALE phenopacket.store:SLC4A10.PMID_38054405_Family_4_individual_P7 biolink:Case Family 4 individual P7 FEMALE phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P1 biolink:Case Family 1 individual P1 MALE phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P10 biolink:Case Family 5 individual P10 MALE phenopacket.store:SLC4A10.PMID_38054405_Family_2_individual_P3 biolink:Case Family 2 individual P3 FEMALE phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P4 biolink:Case Family 3 individual P4 FEMALE phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_3 biolink:Case Family 3 II:3 FEMALE phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P5 biolink:Case Family 3 individual P5 MALE phenopacket.store:SLC4A10.PMID_38054405_Family_3_individual_P6 biolink:Case Family 3 individual P6 MALE phenopacket.store:SLC4A10.PMID_38054405_Family_1_individual_P2 biolink:Case Family 1 individual P2 FEMALE phenopacket.store:SLC4A10.PMID_37459438_Family_2_II_1 biolink:Case Family 2 II:1 MALE phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_1 biolink:Case Family 1 III:1 MALE phenopacket.store:SLC4A10.PMID_38054405_Family_5_individual_P9 biolink:Case Family 5 individual P9 FEMALE phenopacket.store:SLC4A10.PMID_37459438_Family_3_II_2 biolink:Case Family 3 II:2 FEMALE phenopacket.store:SLC4A10.PMID_38054405_Family_6_individual_P11 biolink:Case Family 6 individual P11 FEMALE phenopacket.store:SLC4A10.PMID_37459438_Family_1_III_2 biolink:Case Family 1 III:2 MALE phenopacket.store:SLC4A11.PMID_25007886_Subject_4 biolink:Case Subject 4 phenopacket.store:SLC4A11.PMID_25007886_Subject_1 biolink:Case Subject 1 phenopacket.store:SLC4A11.PMID_25007886_Subject_3 biolink:Case Subject 3 phenopacket.store:SLC4A11.PMID_25007886_Subject_2 biolink:Case Subject 2 phenopacket.store:SLC6A8.PMID_30400883_proband biolink:Case proband MALE phenopacket.store:SLC9A3.PMID_26358773_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:SLC9A3.PMID_26358773_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:SLC9A3.PMID_26358773_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:SLC9A3.PMID_26358773_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:SLC9A3.PMID_26358773_Patient_9 biolink:Case Patient 9 MALE phenopacket.store:SLC9A3.PMID_26358773_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:SLC9A3.PMID_26358773_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:SMAD2.PMID_29967133_Family_3_II_3 biolink:Case Family 3 II-3 FEMALE phenopacket.store:SMAD2.PMID_26247899_P2_1 biolink:Case P2-1 FEMALE phenopacket.store:SMAD2.PMID_23665959_Patient_1_02020 biolink:Case Patient 1-02020 phenopacket.store:SMAD2.PMID_30157302_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:SMAD2.PMID_30157302_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:SMAD2.PMID_29967133_Family_4_III_2 biolink:Case Family 4 III-2 MALE phenopacket.store:SMAD2.PMID_30157302_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:SMAD2.PMID_29967133_Family_3_II_2 biolink:Case Family 3 II-2 FEMALE phenopacket.store:SMAD2.PMID_26247899_P3_2 biolink:Case P3-2 FEMALE phenopacket.store:SMAD2.PMID_29967133_Family_2_II_2 biolink:Case Family 2 II-2 FEMALE phenopacket.store:SMAD2.PMID_29967133_Family_3_III_2 biolink:Case Family 3 III-2 MALE phenopacket.store:SMAD2.PMID_23665959_Patient_1_02621 biolink:Case Patient 1-02621 phenopacket.store:SMAD2.PMID_28283438_51_year_old_man biolink:Case 51-year-old man MALE phenopacket.store:SMAD2.PMID_30157302_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:SMAD2.PMID_29967133_Family_5_II_5 biolink:Case Family 5 II-5 MALE phenopacket.store:SMAD2.PMID_29967133_Family_1_III_1 biolink:Case Family 1 III-1 MALE phenopacket.store:SMAD2.PMID_26247899_P1_1 biolink:Case P1-1 FEMALE phenopacket.store:SMAD2.PMID_30448172_man biolink:Case man MALE phenopacket.store:SMAD2.PMID_26247899_P3_1 biolink:Case P3-1 FEMALE phenopacket.store:SMAD2.PMID_34355836_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:SMAD2.PMID_29967133_Family_3_IV_2 biolink:Case Family 3 IV-2 FEMALE phenopacket.store:SMAD2.PMID_29967133_Family_1_II_1 biolink:Case Family 1 II-1 MALE phenopacket.store:SMAD2.PMID_29967133_Family_2_III_1 biolink:Case Family 2 III-1 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-7 biolink:Case Fam 1 II-7 FEMALE phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_2 biolink:Case Family 1 Patient 2 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-13 biolink:Case Fam 1 III-13 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-12 biolink:Case Fam 1 III-12 FEMALE phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_3 biolink:Case Family 2 Patient 3 FEMALE phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_4 biolink:Case Family 2 Patient 4 MALE phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_7 biolink:Case Family 3 Patient 7 MALE phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_12 biolink:Case Family 5 Patient 12 FEMALE phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_17 biolink:Case Family 7 Patient 17 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-1 biolink:Case Fam 2 III-1 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_II-5 biolink:Case Fam 1 II-5 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-6 biolink:Case Fam 1 IV-6 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-19 biolink:Case Fam 1 IV-19 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_3_II-4 biolink:Case Fam 3 II-4 MALE phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_10 biolink:Case Family 4 Patient 10 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-3 biolink:Case Fam 1 III-3 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_2_II-7 biolink:Case Fam 2 II-7 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-18 biolink:Case Fam 1 IV-18 MALE phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_16 biolink:Case Family 7 Patient 16 MALE phenopacket.store:SMAD3.PMID_32154675_Family_1_Patient_1 biolink:Case Family 1 Patient 1 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-4 biolink:Case Fam 1 IV-4 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-3 biolink:Case Fam 2 III-3 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-9 biolink:Case Fam 1 IV-9 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-9 biolink:Case Fam 1 III-9 MALE phenopacket.store:SMAD3.PMID_32154675_Family_5_Patient_13 biolink:Case Family 5 Patient 13 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-1 biolink:Case Fam 1 V-1 MALE phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_21 biolink:Case Family 7 Patient 21 MALE phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_20 biolink:Case Family 7 Patient 20 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-10 biolink:Case Fam 1 IV-10 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_2_III-2 biolink:Case Fam 2 III-2 MALE phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_8 biolink:Case Family 3 Patient 8 MALE phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_9 biolink:Case Family 4 Patient 9 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-3 biolink:Case Fam 1 IV-3 FEMALE phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_19 biolink:Case Family 7 Patient 19 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_V-3 biolink:Case Fam 1 V-3 MALE phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_15 biolink:Case Family 7 Patient 15 MALE phenopacket.store:SMAD3.PMID_32154675_Family_7_Patient_18 biolink:Case Family 7 Patient 18 FEMALE phenopacket.store:SMAD3.PMID_32154675_Family_6_Patient_14 biolink:Case Family 6 Patient 14 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-17 biolink:Case Fam 1 IV-17 MALE phenopacket.store:SMAD3.PMID_32154675_Family_3_Patient_6 biolink:Case Family 3 Patient 6 MALE phenopacket.store:SMAD3.PMID_32154675_Family_2_Patient_5 biolink:Case Family 2 Patient 5 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-2 biolink:Case Fam 1 III-2 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-6 biolink:Case Fam 1 III-6 FEMALE phenopacket.store:SMAD3.PMID_32154675_Family_4_Patient_11 biolink:Case Family 4 Patient 11 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-11 biolink:Case Fam 1 IV-11 MALE phenopacket.store:SMAD3.PMID_32154675_Family_8_Patient_22 biolink:Case Family 8 Patient 22 MALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-7 biolink:Case Fam 1 IV-7 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_IV-1 biolink:Case Fam 1 IV-1 FEMALE phenopacket.store:SMAD3.PMID_21217753_Fam_1_III-8 biolink:Case Fam 1 III-8 FEMALE phenopacket.store:SMAD4.PMID_24715504_patient biolink:Case patient MALE phenopacket.store:SMAD4.PMID_22158539_individual_6 biolink:Case individual 6 FEMALE phenopacket.store:SMAD4.PMID_22158539_individual_8 biolink:Case individual 8 MALE phenopacket.store:SMAD4.PMID_22158539_individual_4 biolink:Case individual 4 FEMALE phenopacket.store:SMAD4.PMID_22158539_individual_9 biolink:Case individual 9 MALE phenopacket.store:SMAD4.PMID_22158539_individual_3 biolink:Case individual 3 FEMALE phenopacket.store:SMAD4.PMID_22158539_individual_2 biolink:Case individual 2 FEMALE phenopacket.store:SMAD4.PMID_22158539_individual_11 biolink:Case individual 11 MALE phenopacket.store:SMAD4.PMID_22158539_individual_1 biolink:Case individual 1 FEMALE phenopacket.store:SMAD4.PMID_22158539_individual_7 biolink:Case individual 7 FEMALE phenopacket.store:SMAD4.PMID_22158539_individual_10 biolink:Case individual 10 FEMALE phenopacket.store:SMAD4.PMID_22158539_individual_5 biolink:Case individual 5 FEMALE phenopacket.store:SMARCB1.PMID_39117932_individual_7 biolink:Case individual 7 phenopacket.store:SMARCB1.PMID_34101994_II_2 biolink:Case II.2 MALE phenopacket.store:SMARCB1.PMID_39170644_Case_presentation biolink:Case Case presentation FEMALE phenopacket.store:SMARCB1.PMID_39117932_individual_5 biolink:Case individual 5 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y11 biolink:Case Patient Y11 FEMALE phenopacket.store:SMARCB1.PMID_25168959_Patient_L43 biolink:Case Patient L43 FEMALE phenopacket.store:SMARCB1.PMID_39117932_individual_2 biolink:Case individual 2 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2426 biolink:Case Patient K2426 MALE phenopacket.store:SMARCB1.PMID_23906836_individual_K2426 biolink:Case individual K2426 MALE phenopacket.store:SMARCB1.PMID_39117932_individual_11 biolink:Case individual 11 phenopacket.store:SMARCB1.PMID_39117932_individual_10 biolink:Case individual 10 phenopacket.store:SMARCB1.PMID_25168959_Patient_K2588 biolink:Case Patient K2588 MALE phenopacket.store:SMARCB1.PMID_25168959_Patient_L5 biolink:Case Patient L5 FEMALE phenopacket.store:SMARCB1.PMID_29907796_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:SMARCB1.PMID_29907796_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:SMARCB1.PMID_39117932_individual_9 biolink:Case individual 9 phenopacket.store:SMARCB1.PMID_25168959_Patient_Y4 biolink:Case Patient Y4 FEMALE phenopacket.store:SMARCB1.PMID_39117932_individual_1 biolink:Case individual 1 phenopacket.store:SMARCB1.PMID_39117932_individual_8 biolink:Case individual 8 phenopacket.store:SMARCB1.PMID_39117932_individual_4 biolink:Case individual 4 phenopacket.store:SMARCB1.PMID_25168959_Patient_L37 biolink:Case Patient L37 MALE phenopacket.store:SMARCB1.PMID_25168959_Patient_Y22 biolink:Case Patient Y22 MALE phenopacket.store:SMARCB1.PMID_34101994_III_1 biolink:Case III.1 MALE phenopacket.store:SMARCB1.PMID_29907796_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:SMARCB1.PMID_25168959_Patient_Y21 biolink:Case Patient Y21 FEMALE phenopacket.store:SMARCB1.PMID_25168959_Patient_L18 biolink:Case Patient L18 FEMALE phenopacket.store:SMARCB1.PMID_39117932_individual_6 biolink:Case individual 6 phenopacket.store:SMARCB1.PMID_29907796_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:SMARCB1.PMID_25168959_Patient_Y29 biolink:Case Patient Y29 MALE phenopacket.store:SMARCB1.PMID_22726846_Individual_KS47 biolink:Case Individual KS47 FEMALE phenopacket.store:SMARCB1.PMID_39117932_individual_12 biolink:Case individual 12 phenopacket.store:SMARCB1.PMID_39117932_individual_3 biolink:Case individual 3 phenopacket.store:SMARCC2.PMID_30580808_Ind-44-Fam-57 biolink:Case Ind-44-Fam-57 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-43-Fam-56 biolink:Case Ind-43-Fam-56 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_14-Fam-44 biolink:Case Machol_Ind_14-Fam-44 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-11-Fam-11 biolink:Case Ind-11-Fam-11 MALE phenopacket.store:SMARCC2.PMID_30580808_Yi_case-Fam-51 biolink:Case Yi_case-Fam-51 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-29-Fam-21 biolink:Case Ind-29-Fam-21 MALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_5-Fam-35 biolink:Case Machol_Ind_5-Fam-35 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-41-Fam-55 biolink:Case Ind-41-Fam-55 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-20-Fam-18 biolink:Case Ind-20-Fam-18 MALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_11-Fam-41 biolink:Case Machol_Ind_11-Fam-41 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-06-Fam-06 biolink:Case Ind-06-Fam-06 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-38-Fam-29 biolink:Case Ind-38-Fam-29 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_4-Fam-34 biolink:Case Machol_Ind_4-Fam-34 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-19-Fam-18 biolink:Case Ind-19-Fam-18 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-02-Fam-02 biolink:Case Ind-02-Fam-02 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-33-Fam-24 biolink:Case Ind-33-Fam-24 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-10-Fam-10 biolink:Case Ind-10-Fam-10 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-39-Fam-30 biolink:Case Ind-39-Fam-30 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-15-Fam-15 biolink:Case Ind-15-Fam-15 MALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_13-Fam-43 biolink:Case Machol_Ind_13-Fam-43 MALE phenopacket.store:SMARCC2.PMID_30580808_Sun_case-Fam-50 biolink:Case Sun_case-Fam-50 phenopacket.store:SMARCC2.PMID_30580808_Ind-17-Fam-16 biolink:Case Ind-17-Fam-16 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-14-Fam-14 biolink:Case Ind-14-Fam-14 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-07-Fam-07 biolink:Case Ind-07-Fam-07 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-18-Fam-17 biolink:Case Ind-18-Fam-17 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-23-Fam-18 biolink:Case Ind-23-Fam-18 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-32-Fam-23 biolink:Case Ind-32-Fam-23 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_9-Fam-39 biolink:Case Machol_Ind_9-Fam-39 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-09-Fam-09 biolink:Case Ind-09-Fam-09 MALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_15-Fam-45 biolink:Case Machol_Ind_15-Fam-45 MALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_1-Fam-31 biolink:Case Machol_Ind_1-Fam-31 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-26-Fam-20 biolink:Case Ind-26-Fam-20 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-31-Fam-22 biolink:Case Ind-31-Fam-22 MALE phenopacket.store:SMARCC2.PMID_30580808_ind-45-Fam-58 biolink:Case ind-45-Fam-58 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-42-Fam-26 biolink:Case Ind-42-Fam-26 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-04-Fam-04 biolink:Case Ind-04-Fam-04 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-35-Fam-26 biolink:Case Ind-35-Fam-26 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-03-Fam-03 biolink:Case Ind-03-Fam-03 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-16-Fam-16 biolink:Case Ind-16-Fam-16 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-13-Fam-13 biolink:Case Ind-13-Fam-13 MALE phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_2-Fam-52 biolink:Case Lo_twin_2-Fam-52 MALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_12-Fam-42 biolink:Case Machol_Ind_12-Fam-42 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-25_Li_Ind_2-Fam-19 biolink:Case Ind-25_Li_Ind_2-Fam-19 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-40-Fam-54 biolink:Case Ind-40-Fam-54 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_6-Fam-36 biolink:Case Machol_Ind_6-Fam-36 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Lo_twin_1-Fam-52 biolink:Case Lo_twin_1-Fam-52 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-37-Fam-28 biolink:Case Ind-37-Fam-28 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-21-Fam-18 biolink:Case Ind-21-Fam-18 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-34-Fam-25 biolink:Case Ind-34-Fam-25 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_123-Fam-47 biolink:Case Chen_Pat_123-Fam-47 phenopacket.store:SMARCC2.PMID_30580808_Ind-12-Fam-12 biolink:Case Ind-12-Fam-12 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-36-Fam-27 biolink:Case Ind-36-Fam-27 MALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_10-Fam-40 biolink:Case Machol_Ind_10-Fam-40 MALE phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_126-Fam-49 biolink:Case Chen_Pat_126-Fam-49 phenopacket.store:SMARCC2.PMID_30580808_Ind-08-Fam-08 biolink:Case Ind-08-Fam-08 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-01-Fam-01 biolink:Case Ind-01-Fam-01 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Chen_Pat_124-Fam-48 biolink:Case Chen_Pat_124-Fam-48 phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_2-Fam-32 biolink:Case Machol_Ind_2-Fam-32 MALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_8-Fam-38 biolink:Case Machol_Ind_8-Fam-38 MALE phenopacket.store:SMARCC2.PMID_30580808_Ind-05-Fam-05 biolink:Case Ind-05-Fam-05 MALE phenopacket.store:SMARCC2.PMID_30580808_Gofin_Subject_5-Fam-53 biolink:Case Gofin_Subject_5-Fam-53 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_3-Fam-33 biolink:Case Machol_Ind_3-Fam-33 MALE phenopacket.store:SMARCC2.PMID_30580808_Machol_Ind_7-Fam-37 biolink:Case Machol_Ind_7-Fam-37 MALE phenopacket.store:SMARCC2.PMID_30580808_Li_Ind_1-Fam-46 biolink:Case Li_Ind_1-Fam-46 FEMALE phenopacket.store:SMARCC2.PMID_30580808_Ind-22-Fam-18 biolink:Case Ind-22-Fam-18 MALE phenopacket.store:SMC3.PMID_28781842_patient_2 biolink:Case patient 2 FEMALE phenopacket.store:SMC3.PMID_28781842_patient_1 biolink:Case patient 1 FEMALE phenopacket.store:SMC3.PMID_17273969_Patient_2P biolink:Case Patient 2P MALE phenopacket.store:SNAP29.PMID_29051910_patient biolink:Case patient MALE phenopacket.store:SNAPC4.PMID_36965478_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:SNAPC4.PMID_36965478_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:SNAPC4.PMID_36965478_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:SNAPC4.PMID_36965478_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:SNAPC4.PMID_36965478_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:SNAPC4.PMID_36965478_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:SNAPC4.PMID_36965478_Individual_8 biolink:Case Individual 8 FEMALE phenopacket.store:SNAPC4.PMID_36965478_Individual_7 biolink:Case Individual 7 FEMALE phenopacket.store:SNAPC4.PMID_36965478_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:SNAPC4.PMID_36965478_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:SNF8.PMID_38423010_individual_C1 biolink:Case individual C1 MALE phenopacket.store:SNF8.PMID_38423010_individual_C2 biolink:Case individual C2 FEMALE phenopacket.store:SNF8.PMID_38423010_individual_B1 biolink:Case individual B1 MALE phenopacket.store:SNF8.PMID_38423010_individual_E1 biolink:Case individual E1 MALE phenopacket.store:SNF8.PMID_38423010_individual_E2 biolink:Case individual E2 MALE phenopacket.store:SNF8.PMID_38423010_individual_A1 biolink:Case individual A1 FEMALE phenopacket.store:SNF8.PMID_38423010_individual_A2 biolink:Case individual A2 FEMALE phenopacket.store:SNF8.PMID_38423010_individual_F1 biolink:Case individual F1 FEMALE phenopacket.store:SNF8.PMID_38423010_individual_D1 biolink:Case individual D1 MALE phenopacket.store:SNUPN.PMID_38413582_Family_6_individual_II_3 biolink:Case Family 6 individual II:3 MALE phenopacket.store:SNUPN.PMID_38413582_Family_13_individual_II_1 biolink:Case Family 13 individual II:1 FEMALE phenopacket.store:SNUPN.PMID_38413582_Family_5_individual_II_4 biolink:Case Family 5 individual II:4 MALE phenopacket.store:SNUPN.PMID_38413582_Family_10_individual_II_1 biolink:Case Family 10 individual II:1 FEMALE phenopacket.store:SNUPN.PMID_38413582_Family_3_individual_II_4 biolink:Case Family 3 individual II:4 MALE phenopacket.store:SNUPN.PMID_38413582_Family_2_individual_II_1 biolink:Case Family 2 individual II:1 MALE phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_2 biolink:Case Individual F1.II.2 FEMALE phenopacket.store:SNUPN.PMID_38366623_Individual_F1_II_1 biolink:Case Individual F1.II.1 MALE phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_1 biolink:Case Family 7 individual II:1 MALE phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_1 biolink:Case Family 9 individual II:1 FEMALE phenopacket.store:SNUPN.PMID_38413582_Family_9_individual_II_2 biolink:Case Family 9 individual II:2 MALE phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_3 biolink:Case Individual F2.II.3 FEMALE phenopacket.store:SNUPN.PMID_38413582_Family_8_individual_II_2 biolink:Case Family 8 individual II:2 MALE phenopacket.store:SNUPN.PMID_38413582_Family_1_individual_II_1 biolink:Case Family 1 individual II:1 FEMALE phenopacket.store:SNUPN.PMID_38413582_Family_7_individual_II_3 biolink:Case Family 7 individual II:3 FEMALE phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_2 biolink:Case Individual F2.II.2 FEMALE phenopacket.store:SNUPN.PMID_38413582_Family_15_individual_II_1 biolink:Case Family 15 individual II:1 MALE phenopacket.store:SNUPN.PMID_38413582_Family_11_individual_II_1 biolink:Case Family 11 individual II:1 FEMALE phenopacket.store:SNUPN.PMID_38413582_Family_12_individual_II_2 biolink:Case Family 12 individual II:2 MALE phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_3 biolink:Case Family 4 individual II:3 FEMALE phenopacket.store:SNUPN.PMID_38413582_Family_14_individual_II_1 biolink:Case Family 14 individual II:1 FEMALE phenopacket.store:SNUPN.PMID_38366623_Individual_F2_II_1 biolink:Case Individual F2.II.1 FEMALE phenopacket.store:SNUPN.PMID_38413582_Family_4_individual_II_2 biolink:Case Family 4 individual II:2 MALE phenopacket.store:SNX14.PMID_25439728_IV.6 biolink:Case IV.6 FEMALE phenopacket.store:SNX14.PMID_25439728_IV.2 biolink:Case IV.2 MALE phenopacket.store:SNX14.PMID_25439728_IV.1 biolink:Case IV.1 FEMALE phenopacket.store:SNX14.PMID_25439728_V.2 biolink:Case V.2 MALE phenopacket.store:SNX14.PMID_30473892_IV-2_sister biolink:Case IV-2 sister FEMALE phenopacket.store:SNX14.PMID_25439728_IV.3 biolink:Case IV.3 FEMALE phenopacket.store:SNX14.PMID_25439728_V.1 biolink:Case V.1 FEMALE phenopacket.store:SNX14.PMID_25439728_III.2 biolink:Case III.2 FEMALE phenopacket.store:SNX14.PMID_30473892_index_patient_IV-1 biolink:Case index patient IV-1 FEMALE phenopacket.store:SOCS1.PMID_36890397_P1 biolink:Case P1 FEMALE phenopacket.store:SOCS1.PMID_37156989_P2 biolink:Case P2 FEMALE phenopacket.store:SOCS1.PMID_38157076_patient biolink:Case patient MALE phenopacket.store:SOCS1.PMID_34421895_P1 biolink:Case P1 FEMALE phenopacket.store:SOCS1.PMID_32853638_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:SOCS1.PMID_33087723_D1 biolink:Case D1 MALE phenopacket.store:SOCS1.PMID_33087723_E4 biolink:Case E4 MALE phenopacket.store:SOCS1.PMID_34421895_P2 biolink:Case P2 MALE phenopacket.store:SOCS1.PMID_33087723_E5 biolink:Case E5 FEMALE phenopacket.store:SOCS1.PMID_33087723_E1 biolink:Case E1 FEMALE phenopacket.store:SOCS1.PMID_33087723_A1 biolink:Case A1 FEMALE phenopacket.store:SOCS1.PMID_33087723_B2 biolink:Case B2 MALE phenopacket.store:SOCS1.PMID_36890397_P2 biolink:Case P2 MALE phenopacket.store:SOCS1.PMID_33087723_E2 biolink:Case E2 FEMALE phenopacket.store:SOCS1.PMID_33087723_A2 biolink:Case A2 FEMALE phenopacket.store:SOCS1.PMID_34421895_P3 biolink:Case P3 FEMALE phenopacket.store:SOCS1.PMID_G13_B1 biolink:Case B1 FEMALE phenopacket.store:SOCS1.PMID_33087723_C1 biolink:Case C1 FEMALE phenopacket.store:SOCS1.PMID_37156989_P1 biolink:Case P1 FEMALE phenopacket.store:SOCS1.PMID_32853638_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:SOD1.PMID_30236613_patient biolink:Case patient FEMALE phenopacket.store:SON.PMID_34521999_31 biolink:Case 31 MALE phenopacket.store:SON.PMID_34521999_32 biolink:Case 32 MALE phenopacket.store:SON.PMID_34521999_4 biolink:Case 4 FEMALE phenopacket.store:SON.PMID_34521999_13 biolink:Case 13 FEMALE phenopacket.store:SON.PMID_34521999_43 biolink:Case 43 FEMALE phenopacket.store:SON.PMID_34521999_49 biolink:Case 49 FEMALE phenopacket.store:SON.PMID_34521999_21 biolink:Case 21 FEMALE phenopacket.store:SON.PMID_34521999_30 biolink:Case 30 MALE phenopacket.store:SON.PMID_34521999_9 biolink:Case 9 FEMALE phenopacket.store:SON.PMID_34521999_18 biolink:Case 18 MALE phenopacket.store:SON.PMID_34521999_25 biolink:Case 25 MALE phenopacket.store:SON.PMID_34521999_50 biolink:Case 50 MALE phenopacket.store:SON.PMID_34521999_37 biolink:Case 37 FEMALE phenopacket.store:SON.PMID_34521999_39 biolink:Case 39 FEMALE phenopacket.store:SON.PMID_34521999_14 biolink:Case 14 MALE phenopacket.store:SON.PMID_34521999_11 biolink:Case 11 FEMALE phenopacket.store:SON.PMID_34521999_41 biolink:Case 41 MALE phenopacket.store:SON.PMID_34521999_17 biolink:Case 17 FEMALE phenopacket.store:SON.PMID_34521999_26 biolink:Case 26 MALE phenopacket.store:SON.PMID_34521999_34 biolink:Case 34 MALE phenopacket.store:SON.PMID_34521999_35 biolink:Case 35 FEMALE phenopacket.store:SON.PMID_34521999_8 biolink:Case 8 MALE phenopacket.store:SON.PMID_34521999_24 biolink:Case 24 MALE phenopacket.store:SON.PMID_34521999_3 biolink:Case 3 FEMALE phenopacket.store:SON.PMID_34521999_29 biolink:Case 29 MALE phenopacket.store:SON.PMID_34521999_40 biolink:Case 40 MALE phenopacket.store:SON.PMID_34521999_19 biolink:Case 19 MALE phenopacket.store:SON.PMID_34521999_45 biolink:Case 45 FEMALE phenopacket.store:SON.PMID_34521999_10 biolink:Case 10 MALE phenopacket.store:SON.PMID_34521999_23 biolink:Case 23 MALE phenopacket.store:SON.PMID_34521999_28 biolink:Case 28 MALE phenopacket.store:SON.PMID_34521999_38 biolink:Case 38 MALE phenopacket.store:SON.PMID_34521999_15 biolink:Case 15 FEMALE phenopacket.store:SON.PMID_34521999_48 biolink:Case 48 FEMALE phenopacket.store:SON.PMID_34521999_5 biolink:Case 5 MALE phenopacket.store:SON.PMID_34521999_22 biolink:Case 22 FEMALE phenopacket.store:SON.PMID_34521999_33 biolink:Case 33 FEMALE phenopacket.store:SON.PMID_34521999_46 biolink:Case 46 FEMALE phenopacket.store:SON.PMID_34521999_47 biolink:Case 47 FEMALE phenopacket.store:SON.PMID_34521999_44 biolink:Case 44 FEMALE phenopacket.store:SON.PMID_34521999_12 biolink:Case 12 MALE phenopacket.store:SON.PMID_34521999_27 biolink:Case 27 FEMALE phenopacket.store:SON.PMID_34521999_16 biolink:Case 16 MALE phenopacket.store:SON.PMID_34521999_52 biolink:Case 52 MALE phenopacket.store:SON.PMID_34521999_2 biolink:Case 2 MALE phenopacket.store:SON.PMID_34521999_20 biolink:Case 20 FEMALE phenopacket.store:SON.PMID_34521999_6 biolink:Case 6 FEMALE phenopacket.store:SON.PMID_34521999_1 biolink:Case 1 MALE phenopacket.store:SON.PMID_34521999_36 biolink:Case 36 FEMALE phenopacket.store:SON.PMID_34521999_42 biolink:Case 42 FEMALE phenopacket.store:SON.PMID_34521999_7 biolink:Case 7 MALE phenopacket.store:SON.PMID_34521999_51 biolink:Case 51 FEMALE phenopacket.store:SP7.PMID_29382611_proband_II_5 biolink:Case proband (II.5) MALE phenopacket.store:SPATA22.PMID_35285020_IV_2_IV_1 biolink:Case IV-2 IV-1 FEMALE phenopacket.store:SPATA22.PMID_35285020_proband_IV_3 biolink:Case proband IV-3 MALE phenopacket.store:SPATA22.PMID_34392356_nan biolink:Case nan MALE phenopacket.store:SPATA22.PMID_35285020_brother_IV_4 biolink:Case brother IV-4 MALE phenopacket.store:SPATA22.PMID_35285020_sister_IV_2 biolink:Case sister IV-2 FEMALE phenopacket.store:SPG7.PMID_17646629_brother_II_1 biolink:Case brother II-1 MALE phenopacket.store:SPG7.PMID_17646629_index_patient_II_3 biolink:Case index patient (II-3) FEMALE phenopacket.store:SPG7.PMID_17646629_brother_II_4 biolink:Case brother II-4 MALE phenopacket.store:SPIN4.PMID_36927955_proband biolink:Case proband MALE phenopacket.store:SPINK5.PMID_11952552_patient biolink:Case patient MALE phenopacket.store:SPINT2.PMID_29575628_nan biolink:Case nan MALE phenopacket.store:SPRED1.PMID_28150585_patient_P62 biolink:Case patient P62 MALE phenopacket.store:SPTA1.PMID_29484404_proband biolink:Case proband FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_18_Patient_23 biolink:Case Family 18 Patient 23 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_26_Patient_31 biolink:Case Family 26 Patient 31 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_1 biolink:Case Individual A:III:1 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_14 biolink:Case Family 10 Patient 14 FEMALE phenopacket.store:SPTAN1.PMID_35150594_K_IV_7 biolink:Case K:IV:7 MALE phenopacket.store:SPTAN1.PMID_35150594_K_III_4 biolink:Case K:III:4 FEMALE phenopacket.store:SPTAN1.PMID_35150594_H_III_1 biolink:Case H:III:1 FEMALE phenopacket.store:SPTAN1.PMID_29050398_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:SPTAN1.PMID_29050398_Patient_8 biolink:Case Patient 8 FEMALE phenopacket.store:SPTAN1.PMID_33206935_ale_patient biolink:Case ale patient MALE phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_4 biolink:Case Family 2 Patient 4 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_12_Patient_16 biolink:Case Family 12 Patient 16 MALE phenopacket.store:SPTAN1.PMID_20493457_Subject_2 biolink:Case Subject 2 FEMALE phenopacket.store:SPTAN1.PMID_20493457_Subject_3 biolink:Case Subject 3 MALE phenopacket.store:SPTAN1.PMID_31332438_Individual_B_III_2 biolink:Case Individual B:III:2 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_22_Patient_27 biolink:Case Family 22 Patient 27 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_21_Patient_26 biolink:Case Family 21 Patient 26 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_16_Patient_21 biolink:Case Family 16 Patient 21 FEMALE phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_4 biolink:Case Individual A:II:4 FEMALE phenopacket.store:SPTAN1.PMID_29050398_Patient_20 biolink:Case Patient 20 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_11_Patient_15 biolink:Case Family 11 Patient 15 MALE phenopacket.store:SPTAN1.PMID_29050398_P2 biolink:Case P2 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_3 biolink:Case Family 2 Patient 3 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_13 biolink:Case Family 10 Patient 13 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_9 biolink:Case Patient 9 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_25_Patient_30 biolink:Case Family 25 Patient 30 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_19_Patient_24 biolink:Case Family 19 Patient 24 MALE phenopacket.store:SPTAN1.PMID_35150594_F_II_1 biolink:Case F:II:1 FEMALE phenopacket.store:SPTAN1.PMID_29050398_P4 biolink:Case P4 MALE phenopacket.store:SPTAN1.PMID_35150594_K_IV_8 biolink:Case K:IV:8 FEMALE phenopacket.store:SPTAN1.PMID_35150594_I_II_3 biolink:Case I:II:3 MALE phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_3 biolink:Case Individual C:III:3 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_17 biolink:Case Family 13 Patient 17 MALE phenopacket.store:SPTAN1.PMID_35150594_B_II_1 biolink:Case B:II:1 FEMALE phenopacket.store:SPTAN1.PMID_35150594_K_IV_4 biolink:Case K:IV:4 MALE phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_2 biolink:Case Individual A:II:2 FEMALE phenopacket.store:SPTAN1.PMID_31332438_Individual_C_III_2 biolink:Case Individual C:III:2 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_4_Patient_6 biolink:Case Family 4 Patient 6 MALE phenopacket.store:SPTAN1.PMID_29050398_P1 biolink:Case P1 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_13 biolink:Case Patient 13 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_24_Patient_29 biolink:Case Family 24 Patient 29 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_3_Patient_5 biolink:Case Family 3 Patient 5 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_1_Patient_1 biolink:Case Family 1 Patient 1 FEMALE phenopacket.store:SPTAN1.PMID_35150594_E_II_1 biolink:Case E:II:1 FEMALE phenopacket.store:SPTAN1.PMID_31332438_Individual_A_III_2 biolink:Case Individual A:III:2 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_9_Patient_11 biolink:Case Family 9 Patient 11 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_2_Patient_2 biolink:Case Family 2 Patient 2 FEMALE phenopacket.store:SPTAN1.PMID_31332438_Individual_A_I_1 biolink:Case Individual A:I:1 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_11 biolink:Case Patient 11 MALE phenopacket.store:SPTAN1.PMID_22258530_Patient_2 biolink:Case Patient-2 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_14 biolink:Case Patient 14 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_20_Patient_25 biolink:Case Family 20 Patient 25 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_12 biolink:Case Patient 12 FEMALE phenopacket.store:SPTAN1.PMID_31332438_Individual_B_II_2 biolink:Case Individual B:II:2 FEMALE phenopacket.store:SPTAN1.PMID_35150594_N_II_1 biolink:Case N:II:1 MALE phenopacket.store:SPTAN1.PMID_35150594_I_I_1 biolink:Case I:I:1 MALE phenopacket.store:SPTAN1.PMID_35150594_K_III_9 biolink:Case K:III:9 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_17_Patient_22 biolink:Case Family 17 Patient 22 MALE phenopacket.store:SPTAN1.PMID_35150594_M_II_1 biolink:Case M:II:1 FEMALE phenopacket.store:SPTAN1.PMID_29050398_P15 biolink:Case P15 MALE phenopacket.store:SPTAN1.PMID_35150594_D_II_2 biolink:Case D:II:2 MALE phenopacket.store:SPTAN1.PMID_29050398_P3 biolink:Case P3 MALE phenopacket.store:SPTAN1.PMID_35150594_A_II_3 biolink:Case A:II:3 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_10 biolink:Case Patient 10 FEMALE phenopacket.store:SPTAN1.PMID_35150594_K_III_5 biolink:Case K:III:5 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_15_Patient_20 biolink:Case Family 15 Patient 20 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_13_Patient_18 biolink:Case Family 13 Patient 18 FEMALE phenopacket.store:SPTAN1.PMID_31332438_Individual_A_II_3 biolink:Case Individual A:II:3 MALE phenopacket.store:SPTAN1.PMID_35150594_C_II_1 biolink:Case C:II:1 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_17 biolink:Case Patient 17 MALE phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_1 biolink:Case Individual B:IV:1 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_19 biolink:Case Patient 19 FEMALE phenopacket.store:SPTAN1.PMID_35150594_G_II_1 biolink:Case G:II:1 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_23_Patient_28 biolink:Case Family 23 Patient 28 MALE phenopacket.store:SPTAN1.PMID_35150594_J_II_1 biolink:Case J:II:1 FEMALE phenopacket.store:SPTAN1.PMID_31332438_Individual_B_IV_2 biolink:Case Individual B:IV:2 MALE phenopacket.store:SPTAN1.PMID_35150594_L_II_1 biolink:Case L:II:1 MALE phenopacket.store:SPTAN1.PMID_36331550_Family_14_Patient_19 biolink:Case Family 14 Patient 19 FEMALE phenopacket.store:SPTAN1.PMID_35150594_K_IV_3 biolink:Case K:IV:3 MALE phenopacket.store:SPTAN1.PMID_33578420_1_year_old_female biolink:Case 1-year-old female FEMALE phenopacket.store:SPTAN1.PMID_29050398_Patient_16 biolink:Case Patient 16 MALE phenopacket.store:SPTAN1.PMID_29050398_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:SPTAN1.PMID_36331550_Family_10_Patient_12 biolink:Case Family 10 Patient 12 MALE phenopacket.store:SPTAN1.PMID_35150594_I_II_1 biolink:Case I:II:1 FEMALE phenopacket.store:SPTSSA.PMID_36718090_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:SPTSSA.PMID_36718090_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:SPTSSA.PMID_36718090_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_7 biolink:Case Patient F1:III-7 MALE phenopacket.store:SRPK3.PMID_39073169_Patient_F4 biolink:Case Patient F4 MALE phenopacket.store:SRPK3.PMID_39073169_Patient_F2 biolink:Case Patient F2 MALE phenopacket.store:SRPK3.PMID_39073169_Patient_F5 biolink:Case Patient F5 MALE phenopacket.store:SRPK3.PMID_39073169_Patient_F3_III_1 biolink:Case Patient F3:III-1 MALE phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_5 biolink:Case Patient F1:III-5 MALE phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_4 biolink:Case Patient F1:III-4 MALE phenopacket.store:SRPK3.PMID_39073169_Patient_F1_III_3 biolink:Case Patient F1:III-3 MALE phenopacket.store:SRPK3.PMID_39073169_Patient_F1_II_1 biolink:Case Patient F1:II-1 MALE phenopacket.store:SRSF1.PMID_37071997_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:SRSF1.PMID_37071997_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:SRSF1.PMID_37071997_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:SRSF1.PMID_37071997_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:SRSF1.PMID_37071997_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:SRSF1.PMID_37071997_Individual_11 biolink:Case Individual 11 FEMALE phenopacket.store:SRSF1.PMID_37071997_Individual_16 biolink:Case Individual 16 FEMALE phenopacket.store:SRSF1.PMID_37071997_Individual_8 biolink:Case Individual 8 FEMALE phenopacket.store:SRSF1.PMID_37071997_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:SRSF1.PMID_37071997_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:SRSF1.PMID_37071997_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:SRSF1.PMID_37071997_Individual_12 biolink:Case Individual 12 FEMALE phenopacket.store:SRSF1.PMID_37071997_Individual_14 biolink:Case Individual 14 MALE phenopacket.store:SRSF1.PMID_37071997_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:SRSF1.PMID_37071997_Individual_13 biolink:Case Individual 13 FEMALE phenopacket.store:ST14.PMID_17273967_III-8 biolink:Case III-8 phenopacket.store:ST14.PMID_17273967_III-1 biolink:Case III-1 phenopacket.store:ST14.PMID_17273967_III-5 biolink:Case III-5 phenopacket.store:ST14.PMID_18445049_patient biolink:Case patient FEMALE phenopacket.store:STK11.PMID_15200509_Case_report biolink:Case Case report FEMALE phenopacket.store:STK33.PMID_34155512_III_5 biolink:Case III:5 MALE phenopacket.store:STK33.PMID_34155512_III_3 biolink:Case III:3 MALE phenopacket.store:STK33.PMID_34155512_III_6 biolink:Case III:6 MALE phenopacket.store:STK33.PMID_34155512_III_1 biolink:Case III:1 MALE phenopacket.store:STX4.PMID_36355422_IV_8 biolink:Case IV:8 MALE phenopacket.store:STX4.PMID_36355422_IV_9 biolink:Case IV:9 MALE phenopacket.store:STX4.PMID_36355422_IV_5 biolink:Case IV:5 MALE phenopacket.store:STX4.PMID_36355422_IV_1 biolink:Case IV:1 MALE phenopacket.store:STX4.PMID_36355422_IV_4 biolink:Case IV:4 MALE phenopacket.store:STX4.PMID_36355422_IV_10 biolink:Case IV:10 FEMALE phenopacket.store:STX4.PMID_36355422_IV_7 biolink:Case IV:7 MALE phenopacket.store:STX4.PMID_36355422_IV_2 biolink:Case IV:2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P6 biolink:Case STX_32521962_P6 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_11 biolink:Case STX_26514728_Patient_11 phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_21 biolink:Case STX_Syrbe_21 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_13 biolink:Case STX_26865513_Patient_13 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_24189369_Patient_7 biolink:Case STX_24189369_Patient_7 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26633542_No_ID_2 biolink:Case STX_26633542_No_ID_2 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P8 biolink:Case STX_G3_P8 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P13 biolink:Case STX_32521962_P13 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_05 biolink:Case STX_P_05 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal11 biolink:Case STX_32139178_Patient_Neonatal11 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P12 biolink:Case STX_32521962_P12 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_4 biolink:Case STX_Syrbe_4 MALE phenopacket.store:STXBP1.PMID_35190816_STX_S013 biolink:Case STX_S013 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_12 biolink:Case STX_P_12 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P2 biolink:Case STX_29896790_P2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_29 biolink:Case STX_26865513_Patient_29 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt2 biolink:Case STX_STXBP1adult_Pt2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_007 biolink:Case STX_BCH_007 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P4 biolink:Case STX_32521962_P4 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P19 biolink:Case STX_G3_P19 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_14 biolink:Case STX_26514728_Patient_14 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P23 biolink:Case STX_G3_P23 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P28 biolink:Case STX_G3_P28 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1176 biolink:Case STX_31130284_UPN-1176 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient2 biolink:Case STX_31344879_Patient2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_S014 biolink:Case STX_S014 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_55 biolink:Case STX_31487502_Patient_55 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0549P biolink:Case STX_EG0549P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1751 biolink:Case STX_20887364_Subject_1751 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_2 biolink:Case STX_29933521_Patient_2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_23 biolink:Case STX_26514728_Patient_23 phenopacket.store:STXBP1.PMID_35190816_STX_P_43 biolink:Case STX_P_43 phenopacket.store:STXBP1.PMID_35190816_STX_23020937_MR_NET001 biolink:Case STX_23020937_MR_NET001 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_44 biolink:Case STX_26865513_Patient_44 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0542P biolink:Case STX_EG0542P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1141P biolink:Case STX_EG1141P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P32 biolink:Case STX_G3_P32 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_D biolink:Case STX_23409955_Patient_D FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_03 biolink:Case STX_CHCO_03 MALE phenopacket.store:STXBP1.PMID_35190816_STX_27779742_131 biolink:Case STX_27779742_131 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P8 biolink:Case STX_32521962_P8 MALE phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_2 biolink:Case STX_21204804_Patient_2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_21 biolink:Case STX_25818041_Patient_21 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_F biolink:Case STX_23409955_Patient_F FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Fila_5_EG_CB biolink:Case STX_Fila_5_EG_CB phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_3 biolink:Case STX_20876469_Patient_3 MALE phenopacket.store:STXBP1.PMID_35190816_STX_24781210_Patient_9 biolink:Case STX_24781210_Patient_9 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_6 biolink:Case STX_29264391_Patient_6 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_1 biolink:Case STX_19557857_Patient_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0720P biolink:Case STX_EG0720P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_4 biolink:Case STX_26384463_Patient_4 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_11 biolink:Case STX_26865513_Patient_11 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1414P biolink:Case STX_EG1414P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23934111_ej biolink:Case STX_23934111_ej MALE phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_2 biolink:Case STX_26648591_Patient_2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt4 biolink:Case STX_STXBP1adult_Pt4 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_18 biolink:Case STX_P_18 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_10 biolink:Case STX_26865513_Patient_10 MALE phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_5 biolink:Case STX_30842224_Patient_5 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P9 biolink:Case STX_29896790_P9 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_17 biolink:Case STX_P_17 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_26 biolink:Case STX_P_26 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0219P biolink:Case STX_EG0219P MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_1 biolink:Case STX_26514728_Patient_1 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_09NG001 biolink:Case STX_29997391_09NG001 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_15 biolink:Case STX_Syrbe_15 MALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_12 biolink:Case STX_HSJD_Patient_12 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258815 biolink:Case STX_25533962_258815 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_19 biolink:Case STX_26514728_Patient_19 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_3 biolink:Case STX_29264391_Patient_3 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_4 biolink:Case STX_26514728_Patient_4 phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_8 biolink:Case STX_26514728_Patient_8 phenopacket.store:STXBP1.PMID_35190816_STX_19557857_Patient_2 biolink:Case STX_19557857_Patient_2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_5 biolink:Case STX_30654231_Patient_5 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_SP_B biolink:Case STX_SP_B MALE phenopacket.store:STXBP1.PMID_35190816_STX_28856709_RTT69_1 biolink:Case STX_28856709_RTT69_1 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P15 biolink:Case STX_G3_P15 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_27734276_Patient_9 biolink:Case STX_27734276_Patient_9 MALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_008 biolink:Case STX_BCH_008 MALE phenopacket.store:STXBP1.PMID_35190816_STX_28944233_261220 biolink:Case STX_28944233_261220 MALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_15 biolink:Case STX_HSJD_Patient_15 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1322P biolink:Case STX_EG1322P MALE phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P7 biolink:Case STX_29896790_P7 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_9 biolink:Case STX_26865513_Patient_9 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2103 biolink:Case STX_20887364_Subject_2103 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_S012 biolink:Case STX_S012 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_22 biolink:Case STX_26514728_Patient_22 phenopacket.store:STXBP1.PMID_35190816_STX_EG0931P biolink:Case STX_EG0931P MALE phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P1 biolink:Case STX_29896790_P1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30842647_Patient_45969 biolink:Case STX_30842647_Patient_45969 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0939P biolink:Case STX_EG0939P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_2 biolink:Case STX_20876469_Patient_2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1399P biolink:Case STX_EG1399P MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P9 biolink:Case STX_G3_P9 MALE phenopacket.store:STXBP1.PMID_35190816_STX_23934111_cu biolink:Case STX_23934111_cu MALE phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T1266 biolink:Case STX_23708187_T1266 MALE phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_2 biolink:Case STX_25951140_Case_2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_26 biolink:Case STX_Syrbe_26 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_19 biolink:Case STX_Syrbe_19 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_8 biolink:Case STX_HSJD_Patient_8 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient6 biolink:Case STX_31344879_Patient6 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_A biolink:Case STX_23409955_Patient_A MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_10 biolink:Case STX_26514728_Patient_10 phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_11 biolink:Case STX_18469812_Subject_11 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1010P biolink:Case STX_EG1010P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_102 biolink:Case STX_102 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt1 biolink:Case STX_STXBP1adult_Pt1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P13 biolink:Case STX_G3_P13 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_40 biolink:Case STX_26865513_Patient_40 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient4 biolink:Case STX_31344879_Patient4 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_32429945_Patient_23 biolink:Case STX_32429945_Patient_23 MALE phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_01 biolink:Case STX_CHCO_01 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_4 biolink:Case STX_25497044_Patient_4 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_24315539_Patient biolink:Case STX_24315539_Patient FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_SP_E biolink:Case STX_SP_E FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_17 biolink:Case STX_Syrbe_17 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt32 biolink:Case STX_STXBP1adult_Pt32 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_14 biolink:Case STX_HSJD_Patient_14 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_1 biolink:Case STX_30654231_Patient_1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0395P biolink:Case STX_EG0395P MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P11 biolink:Case STX_G3_P11 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0721P biolink:Case STX_EG0721P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_28387369_R1007 biolink:Case STX_28387369_R1007 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient598 biolink:Case STX_31780880_Patient598 MALE phenopacket.store:STXBP1.PMID_35190816_STX_28944233_265950 biolink:Case STX_28944233_265950 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_31 biolink:Case STX_26865513_Patient_31 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_45 biolink:Case STX_26865513_Patient_45 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_05 biolink:Case STX_CHCO_05 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26212315_Patient_1 biolink:Case STX_26212315_Patient_1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_33 biolink:Case STX_P_33 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0893P biolink:Case STX_EG0893P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30776697_Patient_70 biolink:Case STX_30776697_Patient_70 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_24 biolink:Case STX_26514728_Patient_24 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_P6 biolink:Case STX_29997391_P6 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_25533962_258242 biolink:Case STX_25533962_258242 MALE phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_08 biolink:Case STX_CHCO_08 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31487502_Patient_56 biolink:Case STX_31487502_Patient_56 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23020937_P4276 biolink:Case STX_23020937_P4276 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0519P biolink:Case STX_EG0519P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29929108_Patient_1 biolink:Case STX_29929108_Patient_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0699P biolink:Case STX_EG0699P MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P37 biolink:Case STX_G3_P37 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1368P biolink:Case STX_EG1368P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile22 biolink:Case STX_32139178_Patient_Infantile22 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_25533962_260459 biolink:Case STX_25533962_260459 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_2 biolink:Case STX_30842224_Patient_2 phenopacket.store:STXBP1.PMID_35190816_STX_BCH_011 biolink:Case STX_BCH_011 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P11 biolink:Case STX_32521962_P11 MALE phenopacket.store:STXBP1.PMID_35190816_STX_30109124_Subject_11 biolink:Case STX_30109124_Subject_11 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_38 biolink:Case STX_26865513_Patient_38 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0752P biolink:Case STX_EG0752P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_S011 biolink:Case STX_S011 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0657 biolink:Case STX_31130284_UPN-0657 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_26 biolink:Case STX_26865513_Patient_26 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0685P biolink:Case STX_EG0685P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P10 biolink:Case STX_G3_P10 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P27 biolink:Case STX_G3_P27 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1269P biolink:Case STX_EG1269P MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_28 biolink:Case STX_P_28 MALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_014 biolink:Case STX_BCH_014 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_09 biolink:Case STX_CHCO_09 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_4 biolink:Case STX_29264391_Patient_4 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1188P biolink:Case STX_EG1188P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0469P biolink:Case STX_EG0469P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_25631041_case_report biolink:Case STX_25631041_case_report MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0573P biolink:Case STX_EG0573P MALE phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient1 biolink:Case STX_31344879_Patient1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0810P biolink:Case STX_EG0810P MALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_16 biolink:Case STX_HSJD_Patient_16 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_08 biolink:Case STX_P_08 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Fila_6_EG_CB biolink:Case STX_Fila_6_EG_CB phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P3 biolink:Case STX_32521962_P3 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_15 biolink:Case STX_26514728_Patient_15 phenopacket.store:STXBP1.PMID_35190816_STX_P_20 biolink:Case STX_P_20 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt11 biolink:Case STX_STXBP1adult_Pt11 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P4 biolink:Case STX_G3_P4 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_18 biolink:Case STX_26514728_Patient_18 phenopacket.store:STXBP1.PMID_35190816_STX_G3_P6 biolink:Case STX_G3_P6 MALE phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23151 biolink:Case STX_23708187_T23151 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1233 biolink:Case STX_31780880_Patient1233 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_1 biolink:Case STX_23533165_Patient_1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt16 biolink:Case STX_STXBP1adult_Pt16 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23934111_jk biolink:Case STX_23934111_jk MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P25 biolink:Case STX_G3_P25 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient3 biolink:Case STX_31344879_Patient3 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_6 biolink:Case STX_HSJD_Patient_6 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1184P biolink:Case STX_EG1184P MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P29 biolink:Case STX_G3_P29 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P38 biolink:Case STX_G3_P38 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0337P biolink:Case STX_EG0337P MALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt5 biolink:Case STX_STXBP1adult_Pt5 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29544889_Patient biolink:Case STX_29544889_Patient FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_3 biolink:Case STX_26384463_Patient_3 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0898P biolink:Case STX_EG0898P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_13 biolink:Case STX_HSJD_Patient_13 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1190P biolink:Case STX_EG1190P MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0394P biolink:Case STX_EG0394P MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_32 biolink:Case STX_26865513_Patient_32 MALE phenopacket.store:STXBP1.PMID_35190816_STX_28944233_273873 biolink:Case STX_28944233_273873 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1643P biolink:Case STX_EG1643P MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0226P biolink:Case STX_EG0226P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_2 biolink:Case STX_21770924_Patient_2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_28944233_272650 biolink:Case STX_28944233_272650 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P17 biolink:Case STX_G3_P17 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Infantile12 biolink:Case STX_32139178_Patient_Infantile12 MALE phenopacket.store:STXBP1.PMID_35190816_STX_23533165_Patient_2 biolink:Case STX_23533165_Patient_2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_34 biolink:Case STX_P_34 phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P3 biolink:Case STX_29896790_P3 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_243 biolink:Case STX_29314583_Case_243 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_S004 biolink:Case STX_S004 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_36 biolink:Case STX_26865513_Patient_36 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P10 biolink:Case STX_32521962_P10 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_42 biolink:Case STX_26865513_Patient_42 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1979 biolink:Case STX_20887364_Subject_1979 MALE phenopacket.store:STXBP1.PMID_35190816_STX_S003 biolink:Case STX_S003 MALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_17 biolink:Case STX_HSJD_Patient_17 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_02 biolink:Case STX_CHCO_02 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1570P biolink:Case STX_EG1570P MALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_10 biolink:Case STX_HSJD_Patient_10 MALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_9 biolink:Case STX_HSJD_Patient_9 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31623504_Case_16 biolink:Case STX_31623504_Case_16 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_56 biolink:Case STX_29056246_Patient_56 phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_20 biolink:Case STX_26865513_Patient_20 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_12 biolink:Case STX_26865513_Patient_12 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_30 biolink:Case STX_26865513_Patient_30 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Seoul_Lee_Patient_1 biolink:Case STX_Seoul_Lee_Patient_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_3 biolink:Case STX_29933521_Patient_3 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P35 biolink:Case STX_G3_P35 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P16 biolink:Case STX_G3_P16 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_1 biolink:Case STX_26865513_Patient_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_1 biolink:Case STX_26384463_Patient_1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_32 biolink:Case STX_P_32 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0731P biolink:Case STX_EG0731P MALE phenopacket.store:STXBP1.PMID_35190816_STX_31780880_Patient1214 biolink:Case STX_31780880_Patient1214 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_17 biolink:Case STX_26514728_Patient_17 phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_62 biolink:Case STX_26993267_Case_62 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_8 biolink:Case STX_Syrbe_8 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_002 biolink:Case STX_BCH_002 MALE phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_56 biolink:Case STX_28708303_Patient_56 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_32105008_case_report biolink:Case STX_32105008_case_report MALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P2 biolink:Case STX_32521962_P2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1192P biolink:Case STX_EG1192P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_2 biolink:Case STX_29264391_Patient_2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_25131622_Subject_71 biolink:Case STX_25131622_Subject_71 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_2 biolink:Case STX_Syrbe_2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_25533962_261234 biolink:Case STX_25533962_261234 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_37 biolink:Case STX_26865513_Patient_37 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_07 biolink:Case STX_P_07 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29997391_10NG006 biolink:Case STX_29997391_10NG006 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P33 biolink:Case STX_G3_P33 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_SP_C biolink:Case STX_SP_C FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0906P biolink:Case STX_EG0906P MALE phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_018P biolink:Case STX_31164858_Patient_018P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Fila_4_EG_CB biolink:Case STX_Fila_4_EG_CB phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_3 biolink:Case STX_18469812_Subject_3 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_25 biolink:Case STX_P_25 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_16 biolink:Case STX_26514728_Patient_16 phenopacket.store:STXBP1.PMID_35190816_STX_25533962_263903 biolink:Case STX_25533962_263903 MALE phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23122 biolink:Case STX_23708187_T23122 MALE phenopacket.store:STXBP1.PMID_35190816_STX_27779742_WJL biolink:Case STX_27779742_WJL FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P7 biolink:Case STX_32521962_P7 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_09 biolink:Case STX_P_09 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_03 biolink:Case STX_P_03 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_2 biolink:Case STX_HSJD_Patient_2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_25818041_Patient_20 biolink:Case STX_25818041_Patient_20 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_33 biolink:Case STX_26865513_Patient_33 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P18 biolink:Case STX_G3_P18 MALE phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_1 biolink:Case STX_21770924_Patient_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P31 biolink:Case STX_G3_P31 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P12 biolink:Case STX_G3_P12 MALE phenopacket.store:STXBP1.PMID_35190816_STX_23934111_fh biolink:Case STX_23934111_fh FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_3 biolink:Case STX_Syrbe_3 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P6 biolink:Case STX_29896790_P6 MALE phenopacket.store:STXBP1.PMID_35190816_STX_23934111_dl biolink:Case STX_23934111_dl MALE phenopacket.store:STXBP1.PMID_35190816_STX_S009 biolink:Case STX_S009 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Fila_8_EG_CB biolink:Case STX_Fila_8_EG_CB phenopacket.store:STXBP1.PMID_35190816_STX_28944233_270001 biolink:Case STX_28944233_270001 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1494P biolink:Case STX_EG1494P MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_43 biolink:Case STX_26865513_Patient_43 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1379P biolink:Case STX_EG1379P MALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P1 biolink:Case STX_32521962_P1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0169P biolink:Case STX_EG0169P MALE phenopacket.store:STXBP1.PMID_35190816_STX_31394400_P1 biolink:Case STX_31394400_P1 phenopacket.store:STXBP1.PMID_35190816_STX_27069701_case_report biolink:Case STX_27069701_case_report MALE phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_54 biolink:Case STX_29056246_Patient_54 phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T23553 biolink:Case STX_23708187_T23553 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_28 biolink:Case STX_26865513_Patient_28 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P3 biolink:Case STX_G3_P3 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0239P biolink:Case STX_EG0239P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_45 biolink:Case STX_P_45 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_004 biolink:Case STX_BCH_004 MALE phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_1 biolink:Case STX_25693842_Patient_1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_0843 biolink:Case STX_31130284_UPN-0843 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29314583_Case_235 biolink:Case STX_29314583_Case_235 MALE phenopacket.store:STXBP1.PMID_35190816_STX_28708303_Patient_55 biolink:Case STX_28708303_Patient_55 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_90 biolink:Case STX_30185235_Case_90 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26384463_Patient_2 biolink:Case STX_26384463_Patient_2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Str_Ca_SD biolink:Case STX_Str_Ca_SD phenopacket.store:STXBP1.PMID_35190816_STX_28387369_C0108 biolink:Case STX_28387369_C0108 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_63 biolink:Case STX_26993267_Case_63 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23020937_ES07E0046 biolink:Case STX_23020937_ES07E0046 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22595 biolink:Case STX_23708187_T22595 MALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_010 biolink:Case STX_BCH_010 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_6 biolink:Case STX_18469812_Subject_6 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P30 biolink:Case STX_G3_P30 MALE phenopacket.store:STXBP1.PMID_35190816_STX_27171548_100146 biolink:Case STX_27171548_100146 phenopacket.store:STXBP1.PMID_35190816_STX_S016 biolink:Case STX_S016 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_16 biolink:Case STX_26865513_Patient_16 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G2_P2 biolink:Case STX_G2_P2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P21 biolink:Case STX_G3_P21 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31164858_Patient_106 biolink:Case STX_31164858_Patient_106 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29761117_Case_12 biolink:Case STX_29761117_Case_12 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_005 biolink:Case STX_BCH_005 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_31 biolink:Case STX_P_31 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_29 biolink:Case STX_P_29 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23708187_T22856 biolink:Case STX_23708187_T22856 MALE phenopacket.store:STXBP1.PMID_35190816_STX_25418441_case_report biolink:Case STX_25418441_case_report FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_24095819_Patient_1 biolink:Case STX_24095819_Patient_1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29023665_No_ID_1 biolink:Case STX_29023665_No_ID_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P36 biolink:Case STX_G3_P36 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_091 biolink:Case STX_30182498_Patient_091 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_39 biolink:Case STX_P_39 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31344879_Patient5 biolink:Case STX_31344879_Patient5 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_3 biolink:Case STX_30654231_Patient_3 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_02 biolink:Case STX_P_02 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_9 biolink:Case STX_26514728_Patient_9 phenopacket.store:STXBP1.PMID_35190816_STX_31171384_Patient_1 biolink:Case STX_31171384_Patient_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26740508_Proband_14 biolink:Case STX_26740508_Proband_14 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P14 biolink:Case STX_32521962_P14 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1655 biolink:Case STX_20887364_Subject_1655 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_3 biolink:Case STX_26648591_Patient_3 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0863P biolink:Case STX_EG0863P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_34 biolink:Case STX_26865513_Patient_34 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1324P biolink:Case STX_EG1324P MALE phenopacket.store:STXBP1.PMID_35190816_STX_21762454_Patient_1 biolink:Case STX_21762454_Patient_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_15 biolink:Case STX_26865513_Patient_15 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_14 biolink:Case STX_P_14 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0661P biolink:Case STX_EG0661P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30185235_Case_151 biolink:Case STX_30185235_Case_151 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_1 biolink:Case STX_Syrbe_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_s010 biolink:Case STX_s010 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_32411386_Case_8 biolink:Case STX_32411386_Case_8 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_36 biolink:Case STX_P_36 MALE phenopacket.store:STXBP1.PMID_35190816_STX_SP_L biolink:Case STX_SP_L MALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P9 biolink:Case STX_32521962_P9 MALE phenopacket.store:STXBP1.PMID_35190816_STX_31387522_Patient_9 biolink:Case STX_31387522_Patient_9 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_27 biolink:Case STX_26865513_Patient_27 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P5 biolink:Case STX_G3_P5 MALE phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1792 biolink:Case STX_20887364_Subject_1792 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt6 biolink:Case STX_STXBP1adult_Pt6 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_25 biolink:Case STX_26865513_Patient_25 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P14 biolink:Case STX_G3_P14 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_10 biolink:Case STX_Syrbe_10 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_01 biolink:Case STX_P_01 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29056246_Patient_53 biolink:Case STX_29056246_Patient_53 phenopacket.store:STXBP1.PMID_35190816_STX_29997391_11NG001 biolink:Case STX_29997391_11NG001 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26350204_UK10K_FINDWGA5411254 biolink:Case STX_26350204_UK10K_FINDWGA5411254 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_37 biolink:Case STX_P_37 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1074P biolink:Case STX_EG1074P MALE phenopacket.store:STXBP1.PMID_35190816_STX_26648591_Patient_4 biolink:Case STX_26648591_Patient_4 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_25 biolink:Case STX_Syrbe_25 MALE phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1694 biolink:Case STX_20887364_Subject_1694 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_38 biolink:Case STX_P_38 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_24 biolink:Case STX_P_24 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P26 biolink:Case STX_G3_P26 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_7 biolink:Case STX_26865513_Patient_7 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_27184330_Patient_III biolink:Case STX_27184330_Patient_III FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_21204804_Patient_1 biolink:Case STX_21204804_Patient_1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_65 biolink:Case STX_26993267_Case_65 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_22 biolink:Case STX_26865513_Patient_22 MALE phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_6 biolink:Case STX_20876469_Patient_6 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29778030_No_ID biolink:Case STX_29778030_No_ID FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_32521962_P5 biolink:Case STX_32521962_P5 MALE phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_5 biolink:Case STX_21770924_Patient_5 phenopacket.store:STXBP1.PMID_35190816_STX_27779742_60 biolink:Case STX_27779742_60 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_6 biolink:Case STX_Syrbe_6 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1684P biolink:Case STX_EG1684P MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_16 biolink:Case STX_Syrbe_16 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_19 biolink:Case STX_26865513_Patient_19 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_5 biolink:Case STX_Syrbe_5 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_20 biolink:Case STX_Syrbe_20 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G2_P3 biolink:Case STX_G2_P3 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_S002 biolink:Case STX_S002 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_27 biolink:Case STX_Syrbe_27 MALE phenopacket.store:STXBP1.PMID_35190816_STX_30182498_Patient_068 biolink:Case STX_30182498_Patient_068 MALE phenopacket.store:STXBP1.PMID_35190816_STX_129 biolink:Case STX_129 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_27864847_017P biolink:Case STX_27864847_017P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_66 biolink:Case STX_26993267_Case_66 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_S005 biolink:Case STX_S005 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P34 biolink:Case STX_G3_P34 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_S007 biolink:Case STX_S007 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_1 biolink:Case STX_HSJD_Patient_1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0907P biolink:Case STX_EG0907P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30842224_Patient_3 biolink:Case STX_30842224_Patient_3 phenopacket.store:STXBP1.PMID_35190816_STX_29264391_Patient_7 biolink:Case STX_29264391_Patient_7 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal8 biolink:Case STX_32139178_Patient_Neonatal8 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_58 biolink:Case STX_58 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P8 biolink:Case STX_29896790_P8 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_22 biolink:Case STX_P_22 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_21 biolink:Case STX_P_21 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Fila_2_EG_CB biolink:Case STX_Fila_2_EG_CB phenopacket.store:STXBP1.PMID_35190816_STX_BCH_001 biolink:Case STX_BCH_001 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29390993_Patient_P1 biolink:Case STX_29390993_Patient_P1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0451P biolink:Case STX_EG0451P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_31054490_Patient_2 biolink:Case STX_31054490_Patient_2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_27779742_123 biolink:Case STX_27779742_123 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_18469812_Subject_7 biolink:Case STX_18469812_Subject_7 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal23 biolink:Case STX_32139178_Patient_Neonatal23 MALE phenopacket.store:STXBP1.PMID_35190816_STX_32139178_Patient_Neonatal26 biolink:Case STX_32139178_Patient_Neonatal26 MALE phenopacket.store:STXBP1.PMID_35190816_STX_25497044_Patient_5 biolink:Case STX_25497044_Patient_5 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_27159321_LD_0358 biolink:Case STX_27159321_LD_0358 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P4 biolink:Case STX_29896790_P4 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0086P biolink:Case STX_EG0086P MALE phenopacket.store:STXBP1.PMID_35190816_STX_29718889_Case biolink:Case STX_29718889_Case FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_G2_P4 biolink:Case STX_G2_P4 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26865513_Patient_23 biolink:Case STX_26865513_Patient_23 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_06 biolink:Case STX_P_06 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26993267_Case_64 biolink:Case STX_26993267_Case_64 MALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_012 biolink:Case STX_BCH_012 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_CHCO_07 biolink:Case STX_CHCO_07 MALE phenopacket.store:STXBP1.PMID_35190816_STX_30283815_Patient_16 biolink:Case STX_30283815_Patient_16 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_29933521_Patient_1 biolink:Case STX_29933521_Patient_1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_006 biolink:Case STX_BCH_006 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_31130284_UPN_1751 biolink:Case STX_31130284_UPN-1751 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt8 biolink:Case STX_STXBP1adult_Pt8 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1634P biolink:Case STX_EG1634P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_23409955_Patient_B biolink:Case STX_23409955_Patient_B FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_16 biolink:Case STX_P_16 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_Fila_1_EG_CB biolink:Case STX_Fila_1_EG_CB FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_BCH_009 biolink:Case STX_BCH_009 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_30945278_Patient_DD18003965 biolink:Case STX_30945278_Patient_DD18003965 MALE phenopacket.store:STXBP1.PMID_35190816_STX_26514728_Patient_12 biolink:Case STX_26514728_Patient_12 phenopacket.store:STXBP1.PMID_35190816_STX_22596016_Case_Report biolink:Case STX_22596016_Case_Report MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_14 biolink:Case STX_Syrbe_14 MALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_7 biolink:Case STX_HSJD_Patient_7 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G2_P1 biolink:Case STX_G2_P1 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_HSJD_Patient_5 biolink:Case STX_HSJD_Patient_5 MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0317P biolink:Case STX_EG0317P MALE phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_2123 biolink:Case STX_20887364_Subject_2123 MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P2 biolink:Case STX_G3_P2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_12 biolink:Case STX_Syrbe_12 MALE phenopacket.store:STXBP1.PMID_35190816_STX_25693842_Patient_2 biolink:Case STX_25693842_Patient_2 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_EG0598P biolink:Case STX_EG0598P MALE phenopacket.store:STXBP1.PMID_35190816_STX_EG1299P biolink:Case STX_EG1299P MALE phenopacket.store:STXBP1.PMID_35190816_STX_G3_P39 biolink:Case STX_G3_P39 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_STXBP1adult_Pt3 biolink:Case STX_STXBP1adult_Pt3 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_04 biolink:Case STX_P_04 MALE phenopacket.store:STXBP1.PMID_35190816_STX_20887364_Subject_1989 biolink:Case STX_20887364_Subject_1989 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_15 biolink:Case STX_P_15 MALE phenopacket.store:STXBP1.PMID_35190816_STX_25951140_Case_32 biolink:Case STX_25951140_Case_32 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_27 biolink:Case STX_P_27 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_44 biolink:Case STX_P_44 MALE phenopacket.store:STXBP1.PMID_35190816_STX_29896790_P5 biolink:Case STX_29896790_P5 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_28074849_S163 biolink:Case STX_28074849_S163 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_27864847_2138P biolink:Case STX_27864847_2138P FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_P_13 biolink:Case STX_P_13 FEMALE phenopacket.store:STXBP1.PMID_35190816_STX_20876469_Patient_1 biolink:Case STX_20876469_Patient_1 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Syrbe_13 biolink:Case STX_Syrbe_13 MALE phenopacket.store:STXBP1.PMID_35190816_STX_P_35 biolink:Case STX_P_35 MALE phenopacket.store:STXBP1.PMID_35190816_STX_30654231_Patient_2 biolink:Case STX_30654231_Patient_2 MALE phenopacket.store:STXBP1.PMID_35190816_STX_Fila_7_EG_CB biolink:Case STX_Fila_7_EG_CB phenopacket.store:STXBP1.PMID_35190816_STX_21770924_Patient_3 biolink:Case STX_21770924_Patient_3 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_31_from_PMID_31806255 biolink:Case Proband 31 from PMID 31806255 MALE phenopacket.store:SUOX.PMID_36303223_Proband_28_from_PMID_33335014 biolink:Case Proband 28 from PMID 33335014 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_30_from_PMID_31806255 biolink:Case Proband 30 from PMID 31806255 MALE phenopacket.store:SUOX.PMID_36303223_Proband_9_from_PMID_12112661 biolink:Case Proband 9 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_21_from_PMID_27289259 biolink:Case Proband 21 from PMID 27289259 MALE phenopacket.store:SUOX.PMID_36303223_Proband_13_from_PMID_12112661 biolink:Case Proband 13 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_18_from_PMID_23414711 biolink:Case Proband 18 from PMID 23414711 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_1_from_PMID_9050047 biolink:Case Proband 1 from PMID 9050047 MALE phenopacket.store:SUOX.PMID_36303223_Proband_25_from_PMID_31870341 biolink:Case Proband 25 from PMID 31870341 MALE phenopacket.store:SUOX.PMID_36303223_Proband_20_from_PMID_24938149 biolink:Case Proband 20 from PMID 24938149 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_24_from_PMID_28629418 biolink:Case Proband 24 from PMID 28629418 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_26_from_PMID_31870341 biolink:Case Proband 26 from PMID 31870341 MALE phenopacket.store:SUOX.PMID_36303223_Proband_14_from_PMID_11825068 biolink:Case Proband 14 from PMID 11825068 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_33_from_PMID_33405344 biolink:Case Proband 33 from PMID 33405344 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_11_from_PMID_12112661 biolink:Case Proband 11 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_16_from_PMID_12368985 biolink:Case Proband 16 from PMID 12368985 MALE phenopacket.store:SUOX.PMID_36303223_Proband_27_from_PMID_31870341 biolink:Case Proband 27 from PMID 31870341 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_7_from_PMID_12112661 biolink:Case Proband 7 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_4_from_PMID_12112661 biolink:Case Proband 4 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_17_from_PMID_15952210 biolink:Case Proband 17 from PMID 15952210 MALE phenopacket.store:SUOX.PMID_36303223_Proband_2_from_PMID_9600976 biolink:Case Proband 2 from PMID 9600976 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_8_from_PMID_12112661 biolink:Case Proband 8 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_5_from_PMID_12112661 biolink:Case Proband 5 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_15_from_PMID_12001203 biolink:Case Proband 15 from PMID 12001203 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_10_from_PMID_12112661 biolink:Case Proband 10 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_32_from_PMID_34025712 biolink:Case Proband 32 from PMID 34025712 MALE phenopacket.store:SUOX.PMID_36303223_Proband_19_from_PMID_23452914 biolink:Case Proband 19 from PMID 23452914 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_23_from_PMID_28725568 biolink:Case Proband 23 from PMID 28725568 MALE phenopacket.store:SUOX.PMID_36303223_Proband_22_from_PMID_27289259 biolink:Case Proband 22 from PMID 27289259 FEMALE phenopacket.store:SUOX.PMID_36303223_Proband_34_from_PMID_33405344 biolink:Case Proband 34 from PMID 33405344 MALE phenopacket.store:SUOX.PMID_36303223_Proband_12_from_PMID_12112661 biolink:Case Proband 12 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_6_from_PMID_12112661 biolink:Case Proband 6 from PMID 12112661 phenopacket.store:SUOX.PMID_36303223_Proband_29_from_PMID_33335014 biolink:Case Proband 29 from PMID 33335014 MALE phenopacket.store:SUOX.PMID_36303223_Proband_35_our_patient biolink:Case Proband 35 our patient MALE phenopacket.store:SUOX.PMID_36303223_Proband_3_from_PMID_10519592 biolink:Case Proband 3 from PMID 10519592 MALE phenopacket.store:SV2A.PMID_37985816_proband biolink:Case proband MALE phenopacket.store:SV2A.PMID_26002053_proband biolink:Case proband FEMALE phenopacket.store:SYCP2L.PMID_32303603_family_P0001_IV_2 biolink:Case family P0001 IV-2 FEMALE phenopacket.store:SYCP2L.PMID_32303603_family_P0005_IV_2 biolink:Case family P0005 IV-2 FEMALE phenopacket.store:TAF4.PMID_35904126_Proband_1_ biolink:Case Proband 1 MALE phenopacket.store:TAF4.PMID_33875846_individual_row_22 biolink:Case individual row 22 phenopacket.store:TAF4.PMID_35904126_Proband_5 biolink:Case Proband 5 FEMALE phenopacket.store:TAF4.PMID_35904126_Proband_6 biolink:Case Proband 6 FEMALE phenopacket.store:TAF4.PMID_35904126_Proband_7_ biolink:Case Proband 7 MALE phenopacket.store:TAF4.PMID_35904126_Proband_8 biolink:Case Proband 8 FEMALE phenopacket.store:TAF4.PMID_35904126_Proband_2_ biolink:Case Proband 2 FEMALE phenopacket.store:TAF4.PMID_33875846_individual_row_24 biolink:Case individual row 24 phenopacket.store:TAF4.PMID_35904126_Proband_3 biolink:Case Proband 3 FEMALE phenopacket.store:TAF4.PMID_35904126_Proband_4 biolink:Case Proband 4 FEMALE phenopacket.store:TAMM41.PMID_35321494_Subject_3 biolink:Case Subject 3 FEMALE phenopacket.store:TAMM41.PMID_35321494_Subject_1 biolink:Case Subject 1 FEMALE phenopacket.store:TAMM41.PMID_35321494_Subject_2 biolink:Case Subject 2 FEMALE phenopacket.store:TANGO2.PMID_26805781_Family_6_Subject_6_II_1 biolink:Case Family 6-Subject 6-II-1 MALE phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_9_II_2 biolink:Case Family 8-Subject 9-II-2 MALE phenopacket.store:TANGO2.PMID_26805782_F3_II_1 biolink:Case F3:II.1 FEMALE phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_12_II_3 biolink:Case Family 9-Subject 12-II-3 MALE phenopacket.store:TANGO2.PMID_26805781_Family_7_Subject_7_III_2 biolink:Case Family 7-Subject 7-III-2 MALE phenopacket.store:TANGO2.PMID_26805781_Family_1_Subject_1_II_1 biolink:Case Family 1-Subject 1-II-1 FEMALE phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_8_II_1 biolink:Case Family 8-Subject 8-II-1 FEMALE phenopacket.store:TANGO2.PMID_26805782_F1_II_2 biolink:Case F1:II.2 FEMALE phenopacket.store:TANGO2.PMID_26805782_F2_II_2 biolink:Case F2:II.2 FEMALE phenopacket.store:TANGO2.PMID_26805781_Family_9_Subject_11_II_2 biolink:Case Family 9-Subject 11-II-2 MALE phenopacket.store:TANGO2.PMID_26805781_Family_5_Subject_5_II_1 biolink:Case Family 5-Subject 5-II-1 FEMALE phenopacket.store:TANGO2.PMID_26805781_Family_3_Subject_3_II_1 biolink:Case Family 3-Subject 3-II-1 FEMALE phenopacket.store:TANGO2.PMID_26805781_Family_2_Subject2_II_1 biolink:Case Family 2-Subject2-II-1 FEMALE phenopacket.store:TANGO2.PMID_26805781_Family_8_Subject_10_II_3 biolink:Case Family 8-Subject 10-II-3 FEMALE phenopacket.store:TANGO2.PMID_26805781_Family_4_Subject_4_II_1 biolink:Case Family 4-Subject 4-II-1 MALE phenopacket.store:TAP2.PMID_7517574_EFA biolink:Case EFA FEMALE phenopacket.store:TAP2.PMID_10560675_P3 biolink:Case P3 phenopacket.store:TAP2.PMID_10560675_P1 biolink:Case P1 FEMALE phenopacket.store:TAP2.PMID_36229627_Case_Description biolink:Case Case Description MALE phenopacket.store:TAPBP.PMID_12149238_Individual_SM biolink:Case Individual SM FEMALE phenopacket.store:TBCK.PMID_27040691_Individual_9_1 biolink:Case Individual 9-1 FEMALE phenopacket.store:TBCK.PMID_29283439_Patient_126_6 biolink:Case Patient 126-6 MALE phenopacket.store:TBCK.PMID_37876076_patient biolink:Case patient FEMALE phenopacket.store:TBCK.PMID_27040692_A_II_1 biolink:Case A-II-1 MALE phenopacket.store:TBCK.PMID_36522252_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:TBCK.PMID_27040691_Individual_1_2a biolink:Case Individual 1-2a FEMALE phenopacket.store:TBCK.PMID_27275012_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:TBCK.PMID_27275012_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:TBCK.PMID_27040691_Individual_9_2 biolink:Case Individual 9-2 MALE phenopacket.store:TBCK.PMID_36273129_patient biolink:Case patient MALE phenopacket.store:TBCK.PMID_27040692_B_IV_6 biolink:Case B-IV-6 FEMALE phenopacket.store:TBCK.PMID_36522252_Individual_4 biolink:Case Individual 4 MALE phenopacket.store:TBCK.PMID_27040691_Individual_7_1 biolink:Case Individual 7-1 MALE phenopacket.store:TBCK.PMID_27040692_D_II_1 biolink:Case D-II-1 MALE phenopacket.store:TBCK.PMID_29283439_Patient_126_7 biolink:Case Patient 126-7 MALE phenopacket.store:TBCK.PMID_36522252_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:TBCK.PMID_27040691_Individual_1_1a biolink:Case Individual 1-1a MALE phenopacket.store:TBCK.PMID_36522252_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:TBCK.PMID_27040691_Individual_6_1 biolink:Case Individual 6-1 MALE phenopacket.store:TBCK.PMID_27040691_Individual_5_1 biolink:Case Individual 5-1 FEMALE phenopacket.store:TBCK.PMID_27275012_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:TBCK.PMID_36522252_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:TBCK.PMID_29283439_Patient_126_1 biolink:Case Patient 126-1 MALE phenopacket.store:TBCK.PMID_29283439_Patient_126_2 biolink:Case Patient 126-2 MALE phenopacket.store:TBCK.PMID_27040691_Individual_8_1 biolink:Case Individual 8-1 FEMALE phenopacket.store:TBCK.PMID_29283439_Patient_126_5 biolink:Case Patient 126-5 MALE phenopacket.store:TBCK.PMID_30103036_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:TBCK.PMID_27040692_B_IV_4 biolink:Case B-IV-4 FEMALE phenopacket.store:TBCK.PMID_36522252_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:TBCK.PMID_29283439_Patient_126_4 biolink:Case Patient 126-4 MALE phenopacket.store:TBCK.PMID_27040691_Individual_2_1 biolink:Case Individual 2-1 MALE phenopacket.store:TBCK.PMID_32363625_Individual_P1 biolink:Case Individual P1 FEMALE phenopacket.store:TBCK.PMID_30103036_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:TBCK.PMID_29283439_Patient_126_3 biolink:Case Patient 126-3 MALE phenopacket.store:TBCK.PMID_29283439_Patient_126_8 biolink:Case Patient 126-8 MALE phenopacket.store:TBCK.PMID_32363625_Individual_P2 biolink:Case Individual P2 FEMALE phenopacket.store:TBCK.PMID_27040691_Individual_4_2 biolink:Case Individual 4-2 FEMALE phenopacket.store:TBCK.PMID_27040692_C_II_1 biolink:Case C-II-1 MALE phenopacket.store:TBCK.PMID_27040691_Individual_4_1 biolink:Case Individual 4-1 FEMALE phenopacket.store:TBCK.PMID_27040691_Individual_3_1 biolink:Case Individual 3-1 MALE phenopacket.store:TBCK.PMID_27040691_Individual_6_2 biolink:Case Individual 6-2 FEMALE phenopacket.store:TBK1.PMID_34363755_Family_2_individual_P3 biolink:Case Family 2 individual P3 MALE phenopacket.store:TBK1.PMID_34363755_Family_3_individual_P4 biolink:Case Family 3 individual P4 FEMALE phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P1 biolink:Case Family 1 individual P1 FEMALE phenopacket.store:TBK1.PMID_34363755_Family_1_individual_P2 biolink:Case Family 1 individual P2 MALE phenopacket.store:TBL1XR1.PMID_28687524_proband biolink:Case proband MALE phenopacket.store:TBX1.PMID_32110744_III_A biolink:Case III-A FEMALE phenopacket.store:TBX1.PMID_30137364_B_III_1 biolink:Case B-III-1 MALE phenopacket.store:TBX1.PMID_24637876_II_2 biolink:Case II-2 FEMALE phenopacket.store:TBX1.PMID_16684884_V39_04 biolink:Case V39/04 MALE phenopacket.store:TBX1.PMID_11748311_p13 biolink:Case p13 phenopacket.store:TBX1.PMID_32110744_III_C biolink:Case III-C MALE phenopacket.store:TBX1.PMID_17273972_H194Q_Father biolink:Case H194Q-Father MALE phenopacket.store:TBX1.PMID_14585638_F3_3 biolink:Case F3-3 MALE phenopacket.store:TBX1.PMID_16684884_V39_02 biolink:Case V39/02 FEMALE phenopacket.store:TBX1.PMID_24637876_III_1 biolink:Case III-1 FEMALE phenopacket.store:TBX1.PMID_14585638_F2 biolink:Case F2 MALE phenopacket.store:TBX1.PMID_14585638_F3_1 biolink:Case F3-1 FEMALE phenopacket.store:TBX1.PMID_30137364_B_II_2 biolink:Case B-II-2 FEMALE phenopacket.store:TBX1.PMID_14585638_F3_2 biolink:Case F3-2 FEMALE phenopacket.store:TBX1.PMID_14585638_F1 biolink:Case F1 FEMALE phenopacket.store:TBX1.PMID_30083032_individual biolink:Case individual MALE phenopacket.store:TBX1.PMID_24637876_III_7 biolink:Case III-7 MALE phenopacket.store:TBX1.PMID_24637876_III_5 biolink:Case III-5 MALE phenopacket.store:TBX1.PMID_32110744_III_B biolink:Case III-B MALE phenopacket.store:TBX1.PMID_24637876_III_6 biolink:Case III-6 FEMALE phenopacket.store:TBX1.PMID_32110744_II_C biolink:Case II-C MALE phenopacket.store:TBX1.PMID_30137364_A_II_4 biolink:Case A-II-4 MALE phenopacket.store:TBX1.PMID_20937753_individual biolink:Case individual MALE phenopacket.store:TBX1.PMID_19948535_individual biolink:Case individual FEMALE phenopacket.store:TBX1.PMID_16684884_V39_03 biolink:Case V39/03 MALE phenopacket.store:TBX1.PMID_17273972_H194Q_Patient biolink:Case H194Q-Patient MALE phenopacket.store:TBX5.PMID_10077612_Family_B_II_5 biolink:Case Family B II-5 FEMALE phenopacket.store:TBX5.PMID_34490705_III_1 biolink:Case III-1 FEMALE phenopacket.store:TBX5.PMID_36444245_proband_III_1 biolink:Case proband III:1 MALE phenopacket.store:TBX5.PMID_12789647_K5_III_2 biolink:Case K5:III-2 phenopacket.store:TBX5.PMID_10842287_HOS_B2 biolink:Case HOS-B2 phenopacket.store:TBX5.PMID_29755943_Family_1_II_2 biolink:Case Family 1:II:2 FEMALE phenopacket.store:TBX5.PMID_12789647_K4_III_3 biolink:Case K4:III-3 phenopacket.store:TBX5.PMID_12789647_K12_II_2 biolink:Case K12:II-2 phenopacket.store:TBX5.PMID_29755943_Family_2_III_1 biolink:Case Family 2:III:1 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_A_III_3 biolink:Case Family A III-3 MALE phenopacket.store:TBX5.PMID_24408148_8_year_old_male_patient biolink:Case 8-year-old male patient MALE phenopacket.store:TBX5.PMID_10077612_Family_A_IV_12 biolink:Case Family A IV-12 MALE phenopacket.store:TBX5.PMID_10077612_Family_A_IV_21 biolink:Case Family A IV-21 FEMALE phenopacket.store:TBX5.PMID_12818525_A_III_3 biolink:Case A III/3 MALE phenopacket.store:TBX5.PMID_10842287_HOS_A2 biolink:Case HOS-A2 phenopacket.store:TBX5.PMID_16917909_649_1 biolink:Case 649-1 FEMALE phenopacket.store:TBX5.PMID_20519243_5_father biolink:Case 5.father MALE phenopacket.store:TBX5.PMID_12789647_K5_III_1 biolink:Case K5:III-1 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_1 biolink:Case Family 2:IV:1 FEMALE phenopacket.store:TBX5.PMID_12789647_K15_II_2 biolink:Case K15:II-2 phenopacket.store:TBX5.PMID_12789647_K13_I_1 biolink:Case K13:I-1 phenopacket.store:TBX5.PMID_10077612_Family_B_III_15 biolink:Case Family B III-15 MALE phenopacket.store:TBX5.PMID_20519243_1 biolink:Case 1 phenopacket.store:TBX5.PMID_10077612_Family_A_V_13 biolink:Case Family A V-13 FEMALE phenopacket.store:TBX5.PMID_27026770_fetus biolink:Case fetus phenopacket.store:TBX5.PMID_12789647_K1_II_2 biolink:Case K1:II-2 phenopacket.store:TBX5.PMID_18351627_Patient_I_2 biolink:Case Patient I-2 FEMALE phenopacket.store:TBX5.PMID_12789647_K15_IV_1 biolink:Case K15:IV-1 phenopacket.store:TBX5.PMID_26401820_Patient_II_2_proband biolink:Case Patient II/2 (proband) phenopacket.store:TBX5.PMID_12818525_A_III_2 biolink:Case A III/2 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_B_IV_10 biolink:Case Family B IV-10 FEMALE phenopacket.store:TBX5.PMID_28434921_a_6_month_old_female biolink:Case a 6-month-old female FEMALE phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_3 biolink:Case Family 2 Patient 3 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_A_V_7 biolink:Case Family A V-7 FEMALE phenopacket.store:TBX5.PMID_17534187_HH8 biolink:Case HH8 phenopacket.store:TBX5.PMID_10077612_Family_B_III_9 biolink:Case Family B III-9 FEMALE phenopacket.store:TBX5.PMID_16917909_619_2 biolink:Case 619-2 FEMALE phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_2 biolink:Case Family 1 Patient 2 MALE phenopacket.store:TBX5.PMID_16917909_667_1 biolink:Case 667-1 FEMALE phenopacket.store:TBX5.PMID_12789647_K16_III_3 biolink:Case K16:III-3 phenopacket.store:TBX5.PMID_29755943_Family_1_III_1 biolink:Case Family 1:III:1 FEMALE phenopacket.store:TBX5.PMID_36444245_father_II_1 biolink:Case father II:1 MALE phenopacket.store:TBX5.PMID_10077612_Family_B_III_5 biolink:Case Family B III-5 MALE phenopacket.store:TBX5.PMID_16917909_619_1 biolink:Case 619-1 MALE phenopacket.store:TBX5.PMID_12789647_K2_II_1 biolink:Case K2:II-1 phenopacket.store:TBX5.PMID_12789647_K5_II_1 biolink:Case K5:II-1 phenopacket.store:TBX5.PMID_12789647_K3_II_1 biolink:Case K3:II-1 phenopacket.store:TBX5.PMID_33866394_Individual_A biolink:Case Individual A MALE phenopacket.store:TBX5.PMID_16917909_667_2 biolink:Case 667-2 MALE phenopacket.store:TBX5.PMID_12789647_K16_IV_1 biolink:Case K16:IV-1 phenopacket.store:TBX5.PMID_18706711_Patient_I_1 biolink:Case Patient I/1 MALE phenopacket.store:TBX5.PMID_16917909_370_2 biolink:Case 370-2 FEMALE phenopacket.store:TBX5.PMID_18706711_Patient_II_4_proband biolink:Case Patient II/4 proband FEMALE phenopacket.store:TBX5.PMID_12789647_K9_II_3 biolink:Case K9:II-3 phenopacket.store:TBX5.PMID_12789647_K11_III_2 biolink:Case K11:III-2 phenopacket.store:TBX5.PMID_12789647_K4_II_1 biolink:Case K4:II-1 phenopacket.store:TBX5.PMID_29755943_Family_2_IV_2 biolink:Case Family 2:IV:2 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_A_III_12 biolink:Case Family A III-12 MALE phenopacket.store:TBX5.PMID_10077612_Family_B_IV_9 biolink:Case Family B IV-9 MALE phenopacket.store:TBX5.PMID_15710732_15_month_old_male_patient biolink:Case 15‐month‐old male patient MALE phenopacket.store:TBX5.PMID_33866394_Individual_B biolink:Case Individual B MALE phenopacket.store:TBX5.PMID_10077612_Family_B_III_18 biolink:Case Family B III-18 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_B_IV_3 biolink:Case Family B IV-3 FEMALE phenopacket.store:TBX5.PMID_16917909_620_1 biolink:Case 620-1 MALE phenopacket.store:TBX5.PMID_10077612_Family_B biolink:Case Family B FEMALE phenopacket.store:TBX5.PMID_10842287_HOS_G biolink:Case HOS-G phenopacket.store:TBX5.PMID_34490705_II_2 biolink:Case II-2 FEMALE phenopacket.store:TBX5.PMID_16917909_706_1 biolink:Case 706-1 MALE phenopacket.store:TBX5.PMID_18706711_Patient_II_12 biolink:Case Patient II/12 FEMALE phenopacket.store:TBX5.PMID_29755943_Family_2_III_3 biolink:Case Family 2:III:3 FEMALE phenopacket.store:TBX5.PMID_16917909_603_1 biolink:Case 603-1 MALE phenopacket.store:TBX5.PMID_16917909_667_3 biolink:Case 667-3 MALE phenopacket.store:TBX5.PMID_12818525_A_IV_4 biolink:Case A IV/4 FEMALE phenopacket.store:TBX5.PMID_12789647_K2_II_2 biolink:Case K2:II-2 phenopacket.store:TBX5.PMID_17534187_HH20 biolink:Case HH20 phenopacket.store:TBX5.PMID_20519243_5_index biolink:Case 5.index FEMALE phenopacket.store:TBX5.PMID_10077612_Family_B_IV_2 biolink:Case Family B IV-2 MALE phenopacket.store:TBX5.PMID_10077612_nan biolink:Case nan MALE phenopacket.store:TBX5.PMID_12789647_K14_III_3 biolink:Case K14:III-3 phenopacket.store:TBX5.PMID_12789647_K8_II_1 biolink:Case K8:II-1 phenopacket.store:TBX5.PMID_16917909_668_2 biolink:Case 668-2 MALE phenopacket.store:TBX5.PMID_22190901_proband biolink:Case proband MALE phenopacket.store:TBX5.PMID_10077612_Family_A_IV_7 biolink:Case Family A IV-7 FEMALE phenopacket.store:TBX5.PMID_12818525_B_III_2 biolink:Case B III/2 MALE phenopacket.store:TBX5.PMID_10077612_Family_B_III_2 biolink:Case Family B III-2 MALE phenopacket.store:TBX5.PMID_16917909_370_1 biolink:Case 370-1 MALE phenopacket.store:TBX5.PMID_16917909_666_1 biolink:Case 666-1 FEMALE phenopacket.store:TBX5.PMID_27552067_girl biolink:Case girl FEMALE phenopacket.store:TBX5.PMID_10077612_Family_B_II_8 biolink:Case Family B II-8 MALE phenopacket.store:TBX5.PMID_12789647_K15_III_2 biolink:Case K15:III-2 phenopacket.store:TBX5.PMID_12789647_K16_II_1 biolink:Case K16:II-1 phenopacket.store:TBX5.PMID_12789647_K12_III_2 biolink:Case K12:III-2 phenopacket.store:TBX5.PMID_12789647_K11_III_1 biolink:Case K11:III-1 phenopacket.store:TBX5.PMID_25216260_Family_1_Patient_1 biolink:Case Family 1 Patient 1 FEMALE phenopacket.store:TBX5.PMID_12789647_K2_I_1 biolink:Case K2:I-1 phenopacket.store:TBX5.PMID_17534187_HH17 biolink:Case HH17 FEMALE phenopacket.store:TBX5.PMID_12789647_K14_II_1 biolink:Case K14:II-1 phenopacket.store:TBX5.PMID_10077612_Family_B_II_2 biolink:Case Family B II-2 MALE phenopacket.store:TBX5.PMID_25216260_Family_2_Patient_4 biolink:Case Family 2 Patient 4 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_B_IV_1 biolink:Case Family B IV-1 MALE phenopacket.store:TBX5.PMID_20519243_3 biolink:Case 3 phenopacket.store:TBX5.PMID_29755943_Family_2_II_2 biolink:Case Family 2:II:2 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_A_VI_1 biolink:Case Family A VI-1 MALE phenopacket.store:TBX5.PMID_12789647_K4_III_2 biolink:Case K4:III-2 phenopacket.store:TBX5.PMID_12789647_K14_III_4 biolink:Case K14:III-4 phenopacket.store:TBX5.PMID_16917909_668_1 biolink:Case 668-1 MALE phenopacket.store:TBX5.PMID_12789647_K12_II_3 biolink:Case K12:II-3 phenopacket.store:TBX5.PMID_27026770_a_6_year_old_girl biolink:Case a 6-year-old girl, phenopacket.store:TBX5.PMID_12789647_K6_II_3 biolink:Case K6:II-3 phenopacket.store:TBX5.PMID_10077612_Family_B_IV_5 biolink:Case Family B IV-5 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_A_IV_18 biolink:Case Family A IV-18 FEMALE phenopacket.store:TBX5.PMID_12818525_B_III_1 biolink:Case B III/1 MALE phenopacket.store:TBX5.PMID_10077612_Family_B_III_7 biolink:Case Family B III-7 MALE phenopacket.store:TBX5.PMID_18351627_Patient_II_2 biolink:Case Patient II-2 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_A_III_10 biolink:Case Family A III-10 FEMALE phenopacket.store:TBX5.PMID_18828908_4_year_old_male_patient biolink:Case 4-year old male patient MALE phenopacket.store:TBX5.PMID_27026770_II_1 biolink:Case II-1 FEMALE phenopacket.store:TBX5.PMID_12789647_K13_II_2 biolink:Case K13:II-2 phenopacket.store:TBX5.PMID_20519243_4 biolink:Case 4 MALE phenopacket.store:TBX5.PMID_10077612_Family_A_IV_11 biolink:Case Family A IV-11 FEMALE phenopacket.store:TBX5.PMID_12789647_K15_III_1 biolink:Case K15:III-1 phenopacket.store:TBX5.PMID_10842287_HOS_B1 biolink:Case HOS-B1 phenopacket.store:TBX5.PMID_10077612_Family_A_V_12 biolink:Case Family A V-12 FEMALE phenopacket.store:TBX5.PMID_25216260_Family_5_Patient_7 biolink:Case Family 5 Patient 7 phenopacket.store:TBX5.PMID_12789647_K4_I_2 biolink:Case K4:I-2 phenopacket.store:TBX5.PMID_10077612_Family_A_VI_5 biolink:Case Family A VI-5 MALE phenopacket.store:TBX5.PMID_10077612_Family_A_IV_20 biolink:Case Family A IV-20 FEMALE phenopacket.store:TBX5.PMID_27652283_patient biolink:Case patient MALE phenopacket.store:TBX5.PMID_10077612_Family_B_III_13 biolink:Case Family B III-13 MALE phenopacket.store:TBX5.PMID_26219450_4_month_old_female_infant biolink:Case 4-month-old female infant FEMALE phenopacket.store:TBX5.PMID_12789647_K16_IV_2 biolink:Case K16:IV-2 phenopacket.store:TBX5.PMID_10077612_Family_A_IV_14 biolink:Case Family A IV-14 MALE phenopacket.store:TBX5.PMID_10077612_Family_B_III_11 biolink:Case Family B III-11 FEMALE phenopacket.store:TBX5.PMID_30538526_patient biolink:Case patient FEMALE phenopacket.store:TBX5.PMID_10077612_Family_A_IV_4 biolink:Case Family A IV-4 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_A_V_5 biolink:Case Family A V-5 FEMALE phenopacket.store:TBX5.PMID_10077612_Family_A_VI_2 biolink:Case Family A VI-2 MALE phenopacket.store:TBX5.PMID_12789647_K17_II_5 biolink:Case K17:II-5 phenopacket.store:TBX5.PMID_12789647_K12_I_2 biolink:Case K12:I-2 phenopacket.store:TBX5.PMID_18706711_Patient_II_7 biolink:Case Patient II/7 FEMALE phenopacket.store:TBX5.PMID_12789647_K10_II_4 biolink:Case K10:II-4 phenopacket.store:TBX5.PMID_12789647_K11_II_2 biolink:Case K11:II-2 phenopacket.store:TBX5.PMID_10842287_HOS_A1 biolink:Case HOS-A1 phenopacket.store:TBX5.PMID_16917909_620_2 biolink:Case 620-2 FEMALE phenopacket.store:TBX5.PMID_12789647_K4_IV_1 biolink:Case K4:IV-1 phenopacket.store:TBX5.PMID_10077612_Family_B_II_11 biolink:Case Family B II-11 FEMALE phenopacket.store:TBX5.PMID_34490705_III_2 biolink:Case III-2 MALE phenopacket.store:TBX5.PMID_16917909_666_2 biolink:Case 666-2 MALE phenopacket.store:TBX5.PMID_26219450_infant biolink:Case infant FEMALE phenopacket.store:TBX5.PMID_17534187_HH24 biolink:Case HH24 FEMALE phenopacket.store:TBX5.PMID_18351627_Patient_II_1 biolink:Case Patient II-1 FEMALE phenopacket.store:TBX5.PMID_12789647_K7_II_1 biolink:Case K7:II-1 phenopacket.store:TBX5.PMID_10077612_Family_A_V_10 biolink:Case Family A V-10 FEMALE phenopacket.store:TBX5.PMID_12818525_B_III_5 biolink:Case B III/5 MALE phenopacket.store:TBX5.PMID_12789647_K15_IV_2 biolink:Case K15:IV-2 phenopacket.store:TBX5.PMID_20519243_2 biolink:Case 2 phenopacket.store:TCOF1.PMID_15214011_5_year_old_girl biolink:Case 5 year-old girl FEMALE phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_2 biolink:Case Family 1 Patient 2 FEMALE phenopacket.store:TCOF1.PMID_24108658_Family_1_Patient_1 biolink:Case Family 1 Patient 1 FEMALE phenopacket.store:TCOF1.PMID_24108658_Family_2_Patient_3 biolink:Case Family 2 Patient 3 FEMALE phenopacket.store:TECRL.PMID_27861123_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:TECRL.PMID_27861123_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:TECRL.PMID_27861123_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:TEFM.PMID_36823193_Patient_4_Family_3 biolink:Case Patient 4 Family 3 FEMALE phenopacket.store:TEFM.PMID_36823193_Patient_3_Family_2 biolink:Case Patient 3 Family 2 MALE phenopacket.store:TEFM.PMID_36823193_Patient_1_Family_1 biolink:Case Patient 1 Family 1 MALE phenopacket.store:TEFM.PMID_36823193_Patient_2_Family_1 biolink:Case Patient 2 Family 1 MALE phenopacket.store:TEFM.PMID_36823193_Patient_7_Family_5 biolink:Case Patient 7 Family 5 FEMALE phenopacket.store:TEFM.PMID_36823193_Patient_6_Family_5 biolink:Case Patient 6 Family 5 MALE phenopacket.store:TEFM.PMID_36823193_Patient_5_Family_4 biolink:Case Patient 5 Family 4 FEMALE phenopacket.store:TFAP2A.PMID_18423521_Patient_1b biolink:Case Patient 1b MALE phenopacket.store:TFAP2A.PMID_18423521_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:TFAP2A.PMID_18423521_Patient_1a biolink:Case Patient 1a FEMALE phenopacket.store:TFAP2A.PMID_18423521_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:TFAP2A.PMID_20461149_index biolink:Case index FEMALE phenopacket.store:TFAP2A.PMID_18423521_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:TFAP2A.PMID_18423521_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:TGFB1.PMID_30034812_patient biolink:Case patient FEMALE phenopacket.store:TGFB2.PMID_22772371_TAA288_III_11 biolink:Case TAA288 III:11 MALE phenopacket.store:TGFB2.PMID_22772371_TAA288_III_8 biolink:Case TAA288 III:8 FEMALE phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_1 biolink:Case TAA288 IV:1 MALE phenopacket.store:TGFB2.PMID_22772368_5_II_2 biolink:Case 5-II:2 MALE phenopacket.store:TGFB2.PMID_22772371_MS239_IV_2 biolink:Case MS239 IV:2 MALE phenopacket.store:TGFB2.PMID_22772371_MS239_III_16 biolink:Case MS239 III:16 MALE phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_2 biolink:Case TAA288 IV:2 MALE phenopacket.store:TGFB2.PMID_22772371_MS239_V_5 biolink:Case MS239 V:5 MALE phenopacket.store:TGFB2.PMID_22772371_TAA288_III_12 biolink:Case TAA288 III:12 MALE phenopacket.store:TGFB2.PMID_22772371_TAA288_IV_3 biolink:Case TAA288 IV:3 MALE phenopacket.store:TGFB2.PMID_22772368_6_III_5 biolink:Case 6-III:5 MALE phenopacket.store:TGFB2.PMID_22772368_6_II_6 biolink:Case 6-II:6 MALE phenopacket.store:TGFB2.PMID_22772368_4_I_2 biolink:Case 4-I:2 MALE phenopacket.store:TGFB2.PMID_22772371_MS1758_II_8 biolink:Case MS1758 II:8 MALE phenopacket.store:TGFB2.PMID_22772371_MS239_IV_20 biolink:Case MS239 IV:20 FEMALE phenopacket.store:TGFB2.PMID_22772368_2_II_1 biolink:Case 2-II:1 MALE phenopacket.store:TGFB2.PMID_22772368_8_II_3 biolink:Case 8-II:3 MALE phenopacket.store:TGFB2.PMID_22772368_3_III_1 biolink:Case 3-III:1 FEMALE phenopacket.store:TGFB2.PMID_22772371_TAA288_III_9 biolink:Case TAA288 III:9 MALE phenopacket.store:TGFB2.PMID_22772371_TAA288_III_4 biolink:Case TAA288 III:4 FEMALE phenopacket.store:TGFB2.PMID_22772368_5_III_2 biolink:Case 5-III:2 MALE phenopacket.store:TGFB2.PMID_22772368_7_III_1 biolink:Case 7-III:1 FEMALE phenopacket.store:TGFB2.PMID_22772368_5_III_1 biolink:Case 5-III:1 FEMALE phenopacket.store:TGFB2.PMID_22772368_1_II_1 biolink:Case 1-II:1 MALE phenopacket.store:TGFB2.PMID_25163805_proposita biolink:Case proposita FEMALE phenopacket.store:TGFB2.PMID_22772371_MS239_IV_12 biolink:Case MS239 IV:12 FEMALE phenopacket.store:TGFB2.PMID_22772368_4_II_3 biolink:Case 4-II:3 MALE phenopacket.store:TGFB2.PMID_22772368_4_III_1 biolink:Case 4-III:1 MALE phenopacket.store:TGFB2.PMID_22772371_TAA288_III_3 biolink:Case TAA288 III:3 MALE phenopacket.store:TGFB2.PMID_22772371_MS211_III_14 biolink:Case MS211 III:14 MALE phenopacket.store:TGFB2.PMID_22772371_MS239_IV_22 biolink:Case MS239 IV:22 MALE phenopacket.store:TGFB2.PMID_22772368_4_II_1 biolink:Case 4-II:1 MALE phenopacket.store:TGFB2.PMID_22772371_TAA288_III_2 biolink:Case TAA288 III:2 FEMALE phenopacket.store:TGFB2.PMID_22772368_6_III_6 biolink:Case 6-III:6 MALE phenopacket.store:TGFB2.PMID_31569402_Family_24_Patient_I biolink:Case Family 24 Patient I FEMALE phenopacket.store:TGFB2.PMID_22772371_TAA288_III_5 biolink:Case TAA288 III:5 MALE phenopacket.store:TGFB3.PMID_25835445_10_II_1 biolink:Case 10-II:1* MALE phenopacket.store:TGFB3.PMID_25835445_1_II_7 biolink:Case 1-II:7 MALE phenopacket.store:TGFB3.PMID_25835445_2_II_4 biolink:Case 2-II:4 FEMALE phenopacket.store:TGFB3.PMID_25835445_2_IV_1 biolink:Case 2-IV:1 MALE phenopacket.store:TGFB3.PMID_25835445_2_II_1 biolink:Case 2-II:1 MALE phenopacket.store:TGFB3.PMID_25835445_7_III_4 biolink:Case 7-III:4 FEMALE phenopacket.store:TGFB3.PMID_25835445_1_II_10 biolink:Case 1-II:10 FEMALE phenopacket.store:TGFB3.PMID_25835445_4_III_1 biolink:Case 4-III:1 FEMALE phenopacket.store:TGFB3.PMID_25835445_4_II_2 biolink:Case 4-II:2* MALE phenopacket.store:TGFB3.PMID_25835445_1_II_14 biolink:Case 1-II:14* FEMALE phenopacket.store:TGFB3.PMID_25835445_10_III_1 biolink:Case 10-III:1* MALE phenopacket.store:TGFB3.PMID_25835445_7_I_1 biolink:Case 7-I:1 MALE phenopacket.store:TGFB3.PMID_25835445_2_III_3 biolink:Case 2-III:3 FEMALE phenopacket.store:TGFB3.PMID_25835445_3_III_1 biolink:Case 3-III:1* MALE phenopacket.store:TGFB3.PMID_25835445_8_III_1 biolink:Case 8-III:1* FEMALE phenopacket.store:TGFB3.PMID_25835445_3_II_3 biolink:Case 3-II:3* FEMALE phenopacket.store:TGFB3.PMID_25835445_4_III_2 biolink:Case 4-III:2 FEMALE phenopacket.store:TGFB3.PMID_25835445_1_IV_1 biolink:Case 1-IV:1* FEMALE phenopacket.store:TGFB3.PMID_25835445_1_II_4 biolink:Case 1-II:4 MALE phenopacket.store:TGFB3.PMID_25835445_11_II_1 biolink:Case 11-II:1* FEMALE phenopacket.store:TGFB3.PMID_25835445_6_II_1 biolink:Case 6-II:1* FEMALE phenopacket.store:TGFB3.PMID_25835445_1_III_6 biolink:Case 1-III:6* MALE phenopacket.store:TGFB3.PMID_25835445_9_I_1 biolink:Case 9-I:1 MALE phenopacket.store:TGFB3.PMID_25835445_1_II_12 biolink:Case 1-II:12* FEMALE phenopacket.store:TGFB3.PMID_25835445_2_IV_2 biolink:Case 2-IV:2* FEMALE phenopacket.store:TGFB3.PMID_25835445_1_III_8 biolink:Case 1-III:8 MALE phenopacket.store:TGFB3.PMID_25835445_10_III_2 biolink:Case 10-III:2* FEMALE phenopacket.store:TGFB3.PMID_25835445_1_III_11 biolink:Case 1-III:11* MALE phenopacket.store:TGFB3.PMID_25835445_1_II_5 biolink:Case 1-II:5* MALE phenopacket.store:TGFB3.PMID_25835445_9_II_2 biolink:Case 9-II:2* FEMALE phenopacket.store:TGFB3.PMID_25835445_1_III_13 biolink:Case 1-III:13* MALE phenopacket.store:TGFB3.PMID_25835445_8_II_1 biolink:Case 8-II:1* MALE phenopacket.store:TGFB3.PMID_25835445_7_II_1 biolink:Case 7-II:1* MALE phenopacket.store:TGFB3.PMID_25835445_2_IV_3 biolink:Case 2-IV:3 MALE phenopacket.store:TGFB3.PMID_25835445_7_II_4 biolink:Case 7-II:4 FEMALE phenopacket.store:TGFB3.PMID_25835445_11_I_1 biolink:Case 11-I:1* MALE phenopacket.store:TGFB3.PMID_25835445_9_III_1 biolink:Case 9-III:1* MALE phenopacket.store:TGFB3.PMID_25835445_1_IV_2 biolink:Case 1-IV:2* MALE phenopacket.store:TGFB3.PMID_25835445_1_II_16 biolink:Case 1-II:16* FEMALE phenopacket.store:TGFB3.PMID_25835445_3_II_2 biolink:Case 3-II:2* FEMALE phenopacket.store:TGFB3.PMID_25835445_3_III_2 biolink:Case 3-III:2* MALE phenopacket.store:TGFB3.PMID_25835445_2_III_7 biolink:Case 2-III:7* FEMALE phenopacket.store:TGFB3.PMID_25835445_5_II_1 biolink:Case 5-II:1* MALE phenopacket.store:TGFBR1.PMID_16596670_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:TGFBR1.PMID_31475485_index_patient_II_5 biolink:Case index patient II.5 FEMALE phenopacket.store:TGFBR1.PMID_21358634_Family_4 biolink:Case Family 4 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_II biolink:Case Family 2 Patient II FEMALE phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_2 biolink:Case Family 10 II-2 MALE phenopacket.store:TGFBR1.PMID_21358634_Family_10 biolink:Case Family 10 phenopacket.store:TGFBR1.PMID_31569402_Family_3_Patient_I biolink:Case Family 3 Patient I FEMALE phenopacket.store:TGFBR1.PMID_15731757_Family_9_II_1 biolink:Case Family 9 II-1 MALE phenopacket.store:TGFBR1.PMID_30701076_patient biolink:Case patient MALE phenopacket.store:TGFBR1.PMID_21358634_Family_11 biolink:Case Family 11 phenopacket.store:TGFBR1.PMID_21358634_Family_5 biolink:Case Family 5 phenopacket.store:TGFBR1.PMID_21358634_Family_7 biolink:Case Family 7 phenopacket.store:TGFBR1.PMID_21358634_Family_6 biolink:Case Family 6 phenopacket.store:TGFBR1.PMID_31569402_Family_6_Patient_I biolink:Case Family 6 Patient I FEMALE phenopacket.store:TGFBR1.PMID_21358634_Family_14 biolink:Case Family 14 phenopacket.store:TGFBR1.PMID_31569402_Family_7_Patient_I biolink:Case Family 7 Patient I MALE phenopacket.store:TGFBR1.PMID_21358634_Family_18 biolink:Case Family 18 phenopacket.store:TGFBR1.PMID_21358634_Family_8 biolink:Case Family 8 phenopacket.store:TGFBR1.PMID_31569402_Family_2_Patient_I biolink:Case Family 2 Patient I FEMALE phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_II biolink:Case Family 4 Patient II MALE phenopacket.store:TGFBR1.PMID_21358634_Family_9 biolink:Case Family 9 phenopacket.store:TGFBR1.PMID_15731757_Family_10_I_2 biolink:Case Family 10 I-2 MALE phenopacket.store:TGFBR1.PMID_21358634_Family_17 biolink:Case Family 17 phenopacket.store:TGFBR1.PMID_21358634_Family_1 biolink:Case Family 1 phenopacket.store:TGFBR1.PMID_31569402_Family_1_Patient_I biolink:Case Family 1 Patient I MALE phenopacket.store:TGFBR1.PMID_15731757_Family_7_II_1 biolink:Case Family 7 II-1 MALE phenopacket.store:TGFBR1.PMID_31569402_Family_8_Patient_I biolink:Case Family 8 Patient I MALE phenopacket.store:TGFBR1.PMID_21358634_Family_3 biolink:Case Family 3 phenopacket.store:TGFBR1.PMID_15731757_Family_8_II_1 biolink:Case Family 8 II-1 MALE phenopacket.store:TGFBR1.PMID_16596670_Patient_4 biolink:Case Patient 4 MALE phenopacket.store:TGFBR1.PMID_31569402_Family_9_Patient_I biolink:Case Family 9 Patient I MALE phenopacket.store:TGFBR1.PMID_31569402_Family_4_Patient_I biolink:Case Family 4 Patient I MALE phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_II biolink:Case Family 5 Patient II FEMALE phenopacket.store:TGFBR1.PMID_21358634_Family_2 biolink:Case Family 2 phenopacket.store:TGFBR1.PMID_29706644_proband_III_1 biolink:Case proband III-1 FEMALE phenopacket.store:TGFBR1.PMID_21358634_Family_16 biolink:Case Family 16 phenopacket.store:TGFBR1.PMID_31569402_Family_5_Patient_I biolink:Case Family 5 Patient I MALE phenopacket.store:TGFBR1.PMID_21358634_Family_13 biolink:Case Family 13 phenopacket.store:TGFBR1.PMID_15731757_Family_10_II_1 biolink:Case Family 10 II-1 MALE phenopacket.store:TGFBR1.PMID_21358634_Family_12 biolink:Case Family 12 phenopacket.store:TGFBR1.PMID_21358634_Family_15 biolink:Case Family 15 phenopacket.store:TGFBR2.PMID_30101859_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:TGFBR2.PMID_16251899_Case_no_2 biolink:Case Case no. 2 FEMALE phenopacket.store:TGFBR2.PMID_19883511_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_9 biolink:Case Family TAA035 Individual IV:9 MALE phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_2 biolink:Case Family 6 II-2 FEMALE phenopacket.store:TGFBR2.PMID_31569402_Family_18_Patient_I biolink:Case Family 18 Patient I FEMALE phenopacket.store:TGFBR2.PMID_15731757_Family_2_II_1 biolink:Case Family 2 II-1 FEMALE phenopacket.store:TGFBR2.PMID_19875893_2_year_old_Polish_girl biolink:Case 2-year-old Polish girl FEMALE phenopacket.store:TGFBR2.PMID_33235621_Case_report biolink:Case Case report FEMALE phenopacket.store:TGFBR2.PMID_15731757_Family_1_II_1 biolink:Case Family 1 II-1 FEMALE phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_II biolink:Case Family 10 Patient II MALE phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_7 biolink:Case Family TAA035 Individual IV:7 MALE phenopacket.store:TGFBR2.PMID_35668506_First_clinical_case biolink:Case First clinical case MALE phenopacket.store:TGFBR2.PMID_31569402_Family_13_Patient_I biolink:Case Family 13 Patient I MALE phenopacket.store:TGFBR2.PMID_15731757_Family_6_I_2 biolink:Case Family 6 I-2 MALE phenopacket.store:TGFBR2.PMID_15731757_Family_4_II_1 biolink:Case Family 4 II-1 MALE phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_II biolink:Case Family 14 Patient II MALE phenopacket.store:TGFBR2.PMID_24220024_7_year_old_Japanese_boy biolink:Case 7-year-old Japanese boy MALE phenopacket.store:TGFBR2.PMID_39188477_Case_presentation biolink:Case Case presentation MALE phenopacket.store:TGFBR2.PMID_31569402_Family_14_Patient_I biolink:Case Family 14 Patient I FEMALE phenopacket.store:TGFBR2.PMID_31569402_Family_19_Patient_I biolink:Case Family 19 Patient I MALE phenopacket.store:TGFBR2.PMID_15731757_Family_3_II_1 biolink:Case Family 3 II-1 FEMALE phenopacket.store:TGFBR2.PMID_31569402_Family_16_Patient_I biolink:Case Family 16 Patient I MALE phenopacket.store:TGFBR2.PMID_27146836_No_11_Family_TAAD048 biolink:Case No 11 Family TAAD048 FEMALE phenopacket.store:TGFBR2.PMID_16283890_II_2 biolink:Case II-2 MALE phenopacket.store:TGFBR2.PMID_33209733_Case_presentation biolink:Case Case presentation MALE phenopacket.store:TGFBR2.PMID_31569402_Family_12_Patient_I biolink:Case Family 12 Patient I FEMALE phenopacket.store:TGFBR2.PMID_16251899_Case_no_3 biolink:Case Case no. 3 FEMALE phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_5 biolink:Case Family TAA035 Individual IV:5 MALE phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_III_8 biolink:Case Family TAA035 Individual III:8 MALE phenopacket.store:TGFBR2.PMID_28163941_proband biolink:Case proband MALE phenopacket.store:TGFBR2.PMID_20358619_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:TGFBR2.PMID_31569402_Family_15_Patient_I biolink:Case Family 15 Patient I FEMALE phenopacket.store:TGFBR2.PMID_15731757_Family_6_II_1 biolink:Case Family 6 II-1 FEMALE phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_6 biolink:Case Family TAA035 Individual IV:6 MALE phenopacket.store:TGFBR2.PMID_32528524_II_2 biolink:Case II-2 FEMALE phenopacket.store:TGFBR2.PMID_39289723_Case_presentation biolink:Case Case presentation MALE phenopacket.store:TGFBR2.PMID_18084123_patient biolink:Case patient MALE phenopacket.store:TGFBR2.PMID_18084123_father biolink:Case father MALE phenopacket.store:TGFBR2.PMID_20358619_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:TGFBR2.PMID_15731757_Family_1_I_2 biolink:Case Family 1 I-2 MALE phenopacket.store:TGFBR2.PMID_36328362_infant biolink:Case infant FEMALE phenopacket.store:TGFBR2.PMID_28679693_a_male_patient biolink:Case a male patient MALE phenopacket.store:TGFBR2.PMID_31569402_Family_11_Patient_I biolink:Case Family 11 Patient I FEMALE phenopacket.store:TGFBR2.PMID_31569402_Family_10_Patient_I biolink:Case Family 10 Patient I FEMALE phenopacket.store:TGFBR2.PMID_15731757_Family_1_III_1 biolink:Case Family 1 III-1 MALE phenopacket.store:TGFBR2.PMID_31569402_Family_17_Patient_I biolink:Case Family 17 Patient I MALE phenopacket.store:TGFBR2.PMID_24220024_nan biolink:Case nan MALE phenopacket.store:TGFBR2.PMID_21949523_Case_report biolink:Case Case report FEMALE phenopacket.store:TGFBR2.PMID_15731757_Family_5_II_1 biolink:Case Family 5 II-1 MALE phenopacket.store:TGFBR2.PMID_16251899_Case_no_1 biolink:Case Case no. 1 MALE phenopacket.store:TGFBR2.PMID_16027248_Family_TAA035_Individual_IV_10 biolink:Case Family TAA035 Individual IV:10 FEMALE phenopacket.store:TGFBR2.PMID_21567932_Patient biolink:Case Patient FEMALE phenopacket.store:TGIF1.PMID_16962354_second_mutation biolink:Case second mutation FEMALE phenopacket.store:TGIF1.PMID_16962354_first_mutation biolink:Case first mutation MALE phenopacket.store:THBS2.PMID_38433265_mother_II_1 biolink:Case mother II:1 FEMALE phenopacket.store:THBS2.PMID_38433265_sister_III_2 biolink:Case sister III:2 FEMALE phenopacket.store:THBS2.PMID_38433265_index_case_patient_III_1 biolink:Case index case patient III:1 FEMALE phenopacket.store:TINF2.PMID_29742735_proband biolink:Case proband FEMALE phenopacket.store:TJP2.PMID_30658709_patient biolink:Case patient FEMALE phenopacket.store:TMEM199.PMID_26833330_F2_II2 biolink:Case F2-II2 MALE phenopacket.store:TMEM199.PMID_29321044_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:TMEM199.PMID_26833330_F1_II2 biolink:Case F1-II2 MALE phenopacket.store:TMEM199.PMID_26833330_F3_II1 biolink:Case F3-II1 FEMALE phenopacket.store:TMEM199.PMID_26833330_F1_II3 biolink:Case F1-II3 MALE phenopacket.store:TMEM199.PMID_29321044_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:TMEM199.PMID_29321044_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:TMEM260.PMID_34612517_F1-II-4 biolink:Case F1-II-4 MALE phenopacket.store:TMEM260.PMID_28318500_2-II-4 biolink:Case 2-II-4 FEMALE phenopacket.store:TMEM260.PMID_34612517_F3-II-2 biolink:Case F3-II-2 MALE phenopacket.store:TMEM260.PMID_34612517_F1-II-3 biolink:Case F1-II-3 FEMALE phenopacket.store:TMEM260.PMID_34612517_F3-II-3 biolink:Case F3-II-3 MALE phenopacket.store:TMEM260.PMID_28318500_1-II-2 biolink:Case 1-II-2 FEMALE phenopacket.store:TMEM260.PMID_28318500_1-II-3 biolink:Case 1-II-3 MALE phenopacket.store:TMEM260.PMID_34612517_F2-II-2 biolink:Case F2-II-2 MALE phenopacket.store:TMEM260.PMID_28318500_1-II-1 biolink:Case 1-II-1 MALE phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_3 biolink:Case Family 2 Patient 3 MALE phenopacket.store:TMEM38B.PMID_26911354_Family_1_Patient_1 biolink:Case Family 1 Patient 1 FEMALE phenopacket.store:TMEM38B.PMID_26911354_Family_2_Patient_2 biolink:Case Family 2 Patient 2 MALE phenopacket.store:TMTC4.PMID_37943620_M/25 biolink:Case M/25 MALE phenopacket.store:TMTC4.PMID_37943620_F/28 biolink:Case F/28 FEMALE phenopacket.store:TOMM7.PMID_36282599_21-year-old_man biolink:Case 21-year-old man MALE phenopacket.store:TOMM7.PMID_36299998_affected_individual biolink:Case affected individual MALE phenopacket.store:TP53RK.PMID_30053862_Case_II_2 biolink:Case Case II-2 MALE phenopacket.store:TP53RK.PMID_30053862_Case_II_1 biolink:Case Case II-1 FEMALE phenopacket.store:TP53RK.PMID_30053862_Case_II_4 biolink:Case Case II-4 MALE phenopacket.store:TPM2.PMID_23378224_Patient_3_family_B biolink:Case Patient 3 family B MALE phenopacket.store:TPM2.PMID_23378224_Patient_2_family_A biolink:Case Patient 2 family A MALE phenopacket.store:TPM2.PMID_23378224_Patient_8_family_E biolink:Case Patient 8 family E FEMALE phenopacket.store:TPM2.PMID_23378224_Patient_7_family_D biolink:Case Patient 7 family D MALE phenopacket.store:TPM2.PMID_23378224_Patient_1_family_A biolink:Case Patient 1 family A FEMALE phenopacket.store:TPM2.PMID_23378224_Patient_5_family_C biolink:Case Patient 5 family C FEMALE phenopacket.store:TPM2.PMID_23378224_Patient_4_family_C biolink:Case Patient 4 family C FEMALE phenopacket.store:TPM2.PMID_23378224_Patient_6_family_C biolink:Case Patient 6 family C MALE phenopacket.store:TPM3.PMID_24239060_index_patient_II_2 biolink:Case index patient II.2 FEMALE phenopacket.store:TRAF7.PMID_32376980_16 biolink:Case 16 MALE phenopacket.store:TRAF7.PMID_32376980_7 biolink:Case 7 FEMALE phenopacket.store:TRAF7.PMID_32376980_15 biolink:Case 15 MALE phenopacket.store:TRAF7.PMID_32376980_29 biolink:Case 29 FEMALE phenopacket.store:TRAF7.PMID_32376980_3 biolink:Case 3 MALE phenopacket.store:TRAF7.PMID_32376980_28 biolink:Case 28 FEMALE phenopacket.store:TRAF7.PMID_32376980_24_(mother_of_patients_25_and_26) biolink:Case 24 (mother of patients 25 and 26) FEMALE phenopacket.store:TRAF7.PMID_32376980_41 biolink:Case 41 FEMALE phenopacket.store:TRAF7.PMID_32376980_5 biolink:Case 5 FEMALE phenopacket.store:TRAF7.PMID_32376980_34 biolink:Case 34 MALE phenopacket.store:TRAF7.PMID_32376980_6_(=_patient_DDD4K.01539_in_DDD_study,_Nature,_2017) biolink:Case 6 (= patient DDD4K.01539 in DDD study, Nature, 2017) FEMALE phenopacket.store:TRAF7.PMID_32376980_37 biolink:Case 37 MALE phenopacket.store:TRAF7.PMID_32376980_40 biolink:Case 40 MALE phenopacket.store:TRAF7.PMID_32376980_38 biolink:Case 38 MALE phenopacket.store:TRAF7.PMID_32376980_20 biolink:Case 20 FEMALE phenopacket.store:TRAF7.PMID_32376980_44 biolink:Case 44 MALE phenopacket.store:TRAF7.PMID_32376980_33_(also_see_Urreizti_et_al_AJMG_2016,_patient_P6,_for_phenotypic_description) biolink:Case 33 (also see Urreizti et al AJMG 2016, patient P6, for phenotypic description) FEMALE phenopacket.store:TRAF7.PMID_32376980_2 biolink:Case 2 MALE phenopacket.store:TRAF7.PMID_32376980_27 biolink:Case 27 MALE phenopacket.store:TRAF7.PMID_32376980_45 biolink:Case 45 MALE phenopacket.store:TRAF7.PMID_32376980_21 biolink:Case 21 MALE phenopacket.store:TRAF7.PMID_32376980_31 biolink:Case 31 MALE phenopacket.store:TRAF7.PMID_32376980_43 biolink:Case 43 MALE phenopacket.store:TRAF7.PMID_32376980_19 biolink:Case 19 MALE phenopacket.store:TRAF7.PMID_32376980_14 biolink:Case 14 MALE phenopacket.store:TRAF7.PMID_32376980_25 biolink:Case 25 MALE phenopacket.store:TRAF7.PMID_32376980_12 biolink:Case 12 FEMALE phenopacket.store:TRAF7.PMID_32376980_26_(twin_of_patient_25) biolink:Case 26 (twin of patient 25) FEMALE phenopacket.store:TRAF7.PMID_32376980_30 biolink:Case 30 FEMALE phenopacket.store:TRAF7.PMID_32376980_8_(=_patient_DDD4K.03113_in_DDD_study,_Nature,_2017) biolink:Case 8 (= patient DDD4K.03113 in DDD study, Nature, 2017) MALE phenopacket.store:TRAF7.PMID_32376980_10 biolink:Case 10 MALE phenopacket.store:TRAF7.PMID_32376980_35 biolink:Case 35 MALE phenopacket.store:TRAF7.PMID_32376980_42 biolink:Case 42 MALE phenopacket.store:TRAF7.PMID_32376980_22 biolink:Case 22 MALE phenopacket.store:TRAF7.PMID_32376980_9 biolink:Case 9 MALE phenopacket.store:TRAF7.PMID_32376980_39 biolink:Case 39 FEMALE phenopacket.store:TRAF7.PMID_32376980_18 biolink:Case 18 MALE phenopacket.store:TRAF7.PMID_32376980_17 biolink:Case 17 MALE phenopacket.store:TRAF7.PMID_32376980_23 biolink:Case 23 MALE phenopacket.store:TRAF7.PMID_32376980_4 biolink:Case 4 FEMALE phenopacket.store:TRAF7.PMID_32376980_1 biolink:Case 1 FEMALE phenopacket.store:TRAF7.PMID_32376980_11 biolink:Case 11 FEMALE phenopacket.store:TRAF7.PMID_32376980_36 biolink:Case 36 MALE phenopacket.store:TRAF7.PMID_32376980_32 biolink:Case 32 MALE phenopacket.store:TRAF7.PMID_32376980_13 biolink:Case 13 FEMALE phenopacket.store:TRMT10C.PMID_27132592_Subject_1 biolink:Case Subject 1 MALE phenopacket.store:TRMT10C.PMID_27132592_Subject_2 biolink:Case Subject 2 FEMALE phenopacket.store:TRPS1.PMID_23691375_4_year_old_girl biolink:Case 4-year-old girl FEMALE phenopacket.store:TSC1.PMID_29196670_Patient_10 biolink:Case Patient 10 FEMALE phenopacket.store:TSC1.PMID_29196670_Patient_14 biolink:Case Patient 14 FEMALE phenopacket.store:TSC1.PMID_29196670_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:TSC1.PMID_29196670_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:TSC1.PMID_29196670_Patient_6 biolink:Case Patient 6 MALE phenopacket.store:TSC2.PMID_29196670_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:TSC2.PMID_29196670_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:TSC2.PMID_29196670_Patient_19 biolink:Case Patient 19 MALE phenopacket.store:TSC2.PMID_29196670_Patient_8 biolink:Case Patient 8 FEMALE phenopacket.store:TSC2.PMID_29196670_Patient_11 biolink:Case Patient 11 FEMALE phenopacket.store:TSC2.PMID_29196670_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:TSC2.PMID_8825048_index_case biolink:Case index case MALE phenopacket.store:TSC2.PMID_29196670_Patient_9 biolink:Case Patient 9 MALE phenopacket.store:TSC2.PMID_8825048_father biolink:Case father MALE phenopacket.store:TSPOAP1.PMID_33539324_C-II.1 biolink:Case C-II.1 MALE phenopacket.store:TSPOAP1.PMID_33539324_C-II.4 biolink:Case C-II.4 FEMALE phenopacket.store:TSPOAP1.PMID_33539324_C-II.3 biolink:Case C-II.3 MALE phenopacket.store:TUBB2B.PMID_28966590_patient biolink:Case patient FEMALE phenopacket.store:TYRP1.PMID_21739261_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:TYRP1.PMID_21739261_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_23 biolink:Case Individual 23 FEMALE phenopacket.store:U2AF2.PMID_34112922_A_Japanese_girl biolink:Case A Japanese girl FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_9 biolink:Case Individual 9 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_12 biolink:Case Individual 12 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_39 biolink:Case Individual 39 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_31 biolink:Case Individual 31 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_24 biolink:Case Individual 24 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_16 biolink:Case Individual 16 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_35 biolink:Case Individual 35 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_14 biolink:Case Individual 14 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:U2AF2.PMID_37134193_2_year_old_female biolink:Case 2-year-old female FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_21 biolink:Case Individual 21 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_13 biolink:Case Individual 13 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_32 biolink:Case Individual 32 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_18 biolink:Case Individual 18 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_22 biolink:Case Individual 22 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_11 biolink:Case Individual 11 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_36 biolink:Case Individual 36 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_40 biolink:Case Individual 40 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_38 biolink:Case Individual 38 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_42 biolink:Case Individual 42 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_45 biolink:Case Individual 45 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_46 biolink:Case Individual 46 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_30 biolink:Case Individual 30 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_8 biolink:Case Individual 8 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_17 biolink:Case Individual 17 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_37 biolink:Case Individual 37 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_25 biolink:Case Individual 25 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_10 biolink:Case Individual 10 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_41 biolink:Case Individual 41 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:U2AF2.PMID_36747105_proband biolink:Case proband MALE phenopacket.store:U2AF2.PMID_37962958_Individual_29 biolink:Case Individual 29 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_44 biolink:Case Individual 44 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_20 biolink:Case Individual 20 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_27 biolink:Case Individual 27 MALE phenopacket.store:U2AF2.PMID_37962958_Individual_43 biolink:Case Individual 43 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_19 biolink:Case Individual 19 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_34 biolink:Case Individual 34 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_33 biolink:Case Individual 33 FEMALE phenopacket.store:U2AF2.PMID_37962958_Individual_26 biolink:Case Individual 26 FEMALE phenopacket.store:UBAP2L.PMID_35977029_family_19 biolink:Case family 19 MALE phenopacket.store:UBAP2L.PMID_35977029_NA127 biolink:Case NA127 FEMALE phenopacket.store:UBAP2L.PMID_35977029_82847 biolink:Case 82847 MALE phenopacket.store:UBAP2L.PMID_35977029_20190W0028 biolink:Case 20190W0028 MALE phenopacket.store:UBAP2L.PMID_35977029_family_4 biolink:Case family 4 FEMALE phenopacket.store:UBAP2L.PMID_35977029_14401.p1 biolink:Case 14401.p1 MALE phenopacket.store:UBAP2L.PMID_35977029_family_9 biolink:Case family 9 MALE phenopacket.store:UBAP2L.PMID_35977029_family_6 biolink:Case family 6 FEMALE phenopacket.store:UBAP2L.PMID_35977029_family_12 biolink:Case family 12 FEMALE phenopacket.store:UBAP2L.PMID_35977029_A43 biolink:Case A43 MALE phenopacket.store:UBAP2L.PMID_35977029_DI1750_167397 biolink:Case DI1750_167397 FEMALE phenopacket.store:UBAP2L.PMID_35977029_family_3 biolink:Case family 3 FEMALE phenopacket.store:UMOD.PMID_14531790_F762_individual_III_10 biolink:Case F762 individual III-10 FEMALE phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_11 biolink:Case Family FGIT individual 11 FEMALE phenopacket.store:UMOD.PMID_33574344_individual_F7 biolink:Case individual F7 FEMALE phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_112 biolink:Case Family FGDC individual 112 FEMALE phenopacket.store:UMOD.PMID_22034507_AII_3 biolink:Case AII.3 FEMALE phenopacket.store:UMOD.PMID_22034507_BI_1 biolink:Case BI.1 MALE phenopacket.store:UMOD.PMID_15983957_F3_individual_III_1 biolink:Case F3 individual III:1 FEMALE phenopacket.store:UMOD.PMID_33574344_individual_F9 biolink:Case individual F9 FEMALE phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_1 biolink:Case Family F1 individual II-1 MALE phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_1 biolink:Case F762 individual IV-1 FEMALE phenopacket.store:UMOD.PMID_18950917_father biolink:Case father MALE phenopacket.store:UMOD.PMID_15575003_daughter_IV_2 biolink:Case daughter IV.2 FEMALE phenopacket.store:UMOD.PMID_14569098_F1_individual_6 biolink:Case F1 individual 6 phenopacket.store:UMOD.PMID_25786455_patient biolink:Case patient FEMALE phenopacket.store:UMOD.PMID_29513881_V_8 biolink:Case V:8 MALE phenopacket.store:UMOD.PMID_14569098_F2_individual_2 biolink:Case F2 individual 2 phenopacket.store:UMOD.PMID_27729211_III_6 biolink:Case III.6 MALE phenopacket.store:UMOD.PMID_14569098_F9_individual_5 biolink:Case F9 individual 5 phenopacket.store:UMOD.PMID_23826568_father biolink:Case father MALE phenopacket.store:UMOD.PMID_14569098_F9_individual_7 biolink:Case F9 individual 7 phenopacket.store:UMOD.PMID_32847529_Case_presentation biolink:Case Case presentation MALE phenopacket.store:UMOD.PMID_14569098_F11_individual_1 biolink:Case F11 individual 1 phenopacket.store:UMOD.PMID_29513881_IV_10 biolink:Case IV:10 MALE phenopacket.store:UMOD.PMID_20151160_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:UMOD.PMID_22034507_DIII_5 biolink:Case DIII.5 FEMALE phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_115 biolink:Case Family FGCM individual 115 FEMALE phenopacket.store:UMOD.PMID_22034507_CIV_5 biolink:Case CIV.5 FEMALE phenopacket.store:UMOD.PMID_22034507_DII_5 biolink:Case DII.5 FEMALE phenopacket.store:UMOD.PMID_14569098_F3_individual_1 biolink:Case F3 individual 1 phenopacket.store:UMOD.PMID_22034507_CII_1 biolink:Case CII.1 MALE phenopacket.store:UMOD.PMID_33574344_individual_F8 biolink:Case individual F8 FEMALE phenopacket.store:UMOD.PMID_22034507_AII_5 biolink:Case AII.5 FEMALE phenopacket.store:UMOD.PMID_14569098_F9_individual_2 biolink:Case F9 individual 2 phenopacket.store:UMOD.PMID_27729211_III_5 biolink:Case III.5 FEMALE phenopacket.store:UMOD.PMID_14569098_F1_individual_1 biolink:Case F1 individual 1 phenopacket.store:UMOD.PMID_17245395_Family_K10_individual_I_1 biolink:Case Family K10 individual  I-1 MALE phenopacket.store:UMOD.PMID_14569098_F2_individual_3 biolink:Case F2 individual 3 phenopacket.store:UMOD.PMID_14569098_F3_individual_3 biolink:Case F3 individual 3 phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_I_1 biolink:Case Family F739 individual I-1 MALE phenopacket.store:UMOD.PMID_27729211_II_1 biolink:Case II.1 FEMALE phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_21 biolink:Case Family FGIT individual 21 FEMALE phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_1 biolink:Case Family FGIT individual 1 MALE phenopacket.store:UMOD.PMID_27764983_Family_1_individual_ŁJ biolink:Case Family 1 individual ŁJ MALE phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_3 biolink:Case F1 individual IV:3 FEMALE phenopacket.store:UMOD.PMID_33574344_individual_F6 biolink:Case individual F6 MALE phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_1151 biolink:Case Family FGCM individual 1151 MALE phenopacket.store:UMOD.PMID_15983957_F1_individual_II_1 biolink:Case F1 individual II:1 MALE phenopacket.store:UMOD.PMID_17245395_Family_F739individual_II_2 biolink:Case Family F739individual II-2 FEMALE phenopacket.store:UMOD.PMID_14569098_F2_individual_7 biolink:Case F2 individual 7 phenopacket.store:UMOD.PMID_15844001_mother biolink:Case mother FEMALE phenopacket.store:UMOD.PMID_27764983_Family_2_brother_of_MZ biolink:Case Family 2 brother of MZ MALE phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_22 biolink:Case Family FGIT individual 22 MALE phenopacket.store:UMOD.PMID_14569098_F1_individual_7 biolink:Case F1 individual 7 phenopacket.store:UMOD.PMID_29513881_IV_6 biolink:Case IV:6 FEMALE phenopacket.store:UMOD.PMID_29513881_III_11 biolink:Case III:11 FEMALE phenopacket.store:UMOD.PMID_22034507_BII_6 biolink:Case BII.6 FEMALE phenopacket.store:UMOD.PMID_14569098_F9_individual_3 biolink:Case F9 individual 3 phenopacket.store:UMOD.PMID_22034507_BII_5 biolink:Case BII.5 FEMALE phenopacket.store:UMOD.PMID_31068150_father biolink:Case father MALE phenopacket.store:UMOD.PMID_22034507_AII_1 biolink:Case AII.1 FEMALE phenopacket.store:UMOD.PMID_22034507_DII_3 biolink:Case DII.3 FEMALE phenopacket.store:UMOD.PMID_14569098_F7_individual_1 biolink:Case F7 individual 1 phenopacket.store:UMOD.PMID_22034507_AIV_8 biolink:Case AIV.8 FEMALE phenopacket.store:UMOD.PMID_22034507_DII_7 biolink:Case DII.7 MALE phenopacket.store:UMOD.PMID_15983957_F2_individual_III_1 biolink:Case F2 individual III:1 MALE phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_KM biolink:Case Family 2 Individual KM FEMALE phenopacket.store:UMOD.PMID_14569098_F1_individual_4 biolink:Case F1 individual 4 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_152 biolink:Case Family FGGR individual 152 MALE phenopacket.store:UMOD.PMID_14569098_F5_individual_1 biolink:Case F5 individual 1 phenopacket.store:UMOD.PMID_14569098_F4_individual_3 biolink:Case F4 individual 3 phenopacket.store:UMOD.PMID_14531790_F739_individual_I_1 biolink:Case F739 individual I-1 MALE phenopacket.store:UMOD.PMID_22034507_BII_1 biolink:Case BII.1 MALE phenopacket.store:UMOD.PMID_17245395_Family_K7_individual_I_1 biolink:Case Family K7 individual  I-1 FEMALE phenopacket.store:UMOD.PMID_27764983_Family_1_individual_KJ biolink:Case Family 1 individual KJ MALE phenopacket.store:UMOD.PMID_15673476_proband biolink:Case proband FEMALE phenopacket.store:UMOD.PMID_22034507_AIII_4 biolink:Case AIII.4 FEMALE phenopacket.store:UMOD.PMID_17245395_Family_F739_individual_II_1 biolink:Case Family F739 individual II-1 MALE phenopacket.store:UMOD.PMID_15983957_F1_individual_II_10 biolink:Case F1 individual II:10 MALE phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_114 biolink:Case Family FGGR individual 114 MALE phenopacket.store:UMOD.PMID_15983957_F1_individual_III_6 biolink:Case F1 individual III:6 MALE phenopacket.store:UMOD.PMID_29513881_III_5 biolink:Case III:5 MALE phenopacket.store:UMOD.PMID_14569098_F9_individual_4 biolink:Case F9 individual 4 phenopacket.store:UMOD.PMID_29513881_III_2 biolink:Case III:2 FEMALE phenopacket.store:UMOD.PMID_33574344_individual_F4 biolink:Case individual F4 MALE phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_11 biolink:Case Family FGJD individual 11 MALE phenopacket.store:UMOD.PMID_29513881_V_2 biolink:Case V:2 FEMALE phenopacket.store:UMOD.PMID_22034507_AII_2 biolink:Case AII.2 MALE phenopacket.store:UMOD.PMID_33574344_individual_F3 biolink:Case individual F3 FEMALE phenopacket.store:UMOD.PMID_27764983_Family_1_individual_TJ biolink:Case Family 1 individual TJ MALE phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_III_1 biolink:Case Family F2 individual III-1 FEMALE phenopacket.store:UMOD.PMID_23826568_index biolink:Case index MALE phenopacket.store:UMOD.PMID_23197950_father biolink:Case father MALE phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_117 biolink:Case Family FGCM individual 117 FEMALE phenopacket.store:UMOD.PMID_14569098_F1_individual_11 biolink:Case F1 individual 11 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_11 biolink:Case Family FGJF individual 11 FEMALE phenopacket.store:UMOD.PMID_22034507_CIII_2 biolink:Case CIII.2 MALE phenopacket.store:UMOD.PMID_28509303_sister biolink:Case sister FEMALE phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_113 biolink:Case Family FGCM individual 113 MALE phenopacket.store:UMOD.PMID_22034507_DIII_3 biolink:Case DIII.3 FEMALE phenopacket.store:UMOD.PMID_28509303_index biolink:Case index FEMALE phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_II_2 biolink:Case Family K8 individual II-2 MALE phenopacket.store:UMOD.PMID_34904096_patient biolink:Case patient MALE phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_3 biolink:Case F762 individual IV-3 MALE phenopacket.store:UMOD.PMID_14531790_F524_individual_II_3 biolink:Case F524 individual II-3 MALE phenopacket.store:UMOD.PMID_22034507_DI_8 biolink:Case DI.8 FEMALE phenopacket.store:UMOD.PMID_14569098_F2_individual_4 biolink:Case F2 individual 4 phenopacket.store:UMOD.PMID_32847529_Family_FGIT_individual_234 biolink:Case Family FGIT individual 234 FEMALE phenopacket.store:UMOD.PMID_15983957_F1_individual_III_1 biolink:Case F1 individual III:1 FEMALE phenopacket.store:UMOD.PMID_29513881_IV_13 biolink:Case IV:13 FEMALE phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_13 biolink:Case Family FGJF individual 13 FEMALE phenopacket.store:UMOD.PMID_21060763_male_index biolink:Case male index MALE phenopacket.store:UMOD.PMID_22034507_CII_2 biolink:Case CII.2 FEMALE phenopacket.store:UMOD.PMID_17245395_Family_K8_individual_I_2 biolink:Case Family K8 individual I-2 FEMALE phenopacket.store:UMOD.PMID_36606057_Case_report biolink:Case Case report FEMALE phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_1141 biolink:Case Family FGCM individual 1141 MALE phenopacket.store:UMOD.PMID_29513881_III_8 biolink:Case III:8 FEMALE phenopacket.store:UMOD.PMID_33574344_individual_F1 biolink:Case individual F1 MALE phenopacket.store:UMOD.PMID_15983957_F3_individual_III_2 biolink:Case F3 individual III:2 FEMALE phenopacket.store:UMOD.PMID_15983957_F3_individual_II_1 biolink:Case F3 individual II:1 FEMALE phenopacket.store:UMOD.PMID_17245395_Family_A214_II_1 biolink:Case Family A214 II-1 MALE phenopacket.store:UMOD.PMID_15983957_F2_individual_II_3 biolink:Case F2 individual II:3 FEMALE phenopacket.store:UMOD.PMID_22034507_CIII_1 biolink:Case CIII.1 MALE phenopacket.store:UMOD.PMID_27764983_Family_2_Individual_MZ biolink:Case Family 2 Individual MZ MALE phenopacket.store:UMOD.PMID_22034507_DIII_1 biolink:Case DIII.1 MALE phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_III_9 biolink:Case Family F3 individual III-9 FEMALE phenopacket.store:UMOD.PMID_14569098_F2_individual_6 biolink:Case F2 individual 6 phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_151 biolink:Case Family FGGR individual 151 MALE phenopacket.store:UMOD.PMID_32274456_Family_FGJD_individual_1 biolink:Case Family FGJD individual 1 FEMALE phenopacket.store:UMOD.PMID_22034507_CIV_3 biolink:Case CIV.3 MALE phenopacket.store:UMOD.PMID_14531790_F524_individual_II_1 biolink:Case F524 individual II-1 MALE phenopacket.store:UMOD.PMID_29569962_e_index_patient_IV_1 biolink:Case e index patient IV-1 FEMALE phenopacket.store:UMOD.PMID_14569098_F3_individual_2 biolink:Case F3 individual 2 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_2 biolink:Case F739 individual II-2 FEMALE phenopacket.store:UMOD.PMID_27764983_Family_1_individual_JD biolink:Case Family 1 individual JD FEMALE phenopacket.store:UMOD.PMID_15575003_index_patient_III_2 biolink:Case index patient III.2 FEMALE phenopacket.store:UMOD.PMID_37487849_patient biolink:Case patient MALE phenopacket.store:UMOD.PMID_32274456_Family_FGCO_individual_1111 biolink:Case Family FGCO individual 1111 FEMALE phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_32 biolink:Case Family FGJF individual 32 FEMALE phenopacket.store:UMOD.PMID_14569098_F9_individual_8 biolink:Case F9 individual 8 phenopacket.store:UMOD.PMID_14569098_F1_individual_3 biolink:Case F1 individual 3 phenopacket.store:UMOD.PMID_14569098_F5_individual_2 biolink:Case F5 individual 2 phenopacket.store:UMOD.PMID_14569098_F1_individual_2 biolink:Case F1 individual 2 phenopacket.store:UMOD.PMID_33574344_individual_F2 biolink:Case individual F2 FEMALE phenopacket.store:UMOD.PMID_15983957_F1_individual_III_3 biolink:Case F1 individual III:3 FEMALE phenopacket.store:UMOD.PMID_32274456_Family_FGDC_individual_111 biolink:Case Family FGDC individual 111 FEMALE phenopacket.store:UMOD.PMID_22034507_CIV_4 biolink:Case CIV.4 MALE phenopacket.store:UMOD.PMID_20151160_Patient_3_father biolink:Case Patient 3 father MALE phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_2 biolink:Case Family F2 individual II-2 FEMALE phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_9 biolink:Case Family F3 individual IV-9 MALE phenopacket.store:UMOD.PMID_14569098_F1_individual_9 biolink:Case F1 individual 9 phenopacket.store:UMOD.PMID_29513881_IV_12 biolink:Case IV:12 MALE phenopacket.store:UMOD.PMID_22034507_BII_3 biolink:Case BII.3 FEMALE phenopacket.store:UMOD.PMID_14569098_F8_individual_1 biolink:Case F8 individual 1 phenopacket.store:UMOD.PMID_33616882_Case_report biolink:Case Case report MALE phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_I_1 biolink:Case Family F1 individual I-1 FEMALE phenopacket.store:UMOD.PMID_14569098_F6_individual_1 biolink:Case F6 individual 1 phenopacket.store:UMOD.PMID_14569098_F9_individual_6 biolink:Case F9 individual 6 phenopacket.store:UMOD.PMID_22034507_BII_4 biolink:Case BII.4 MALE phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_111 biolink:Case Family FGCM individual 111 MALE phenopacket.store:UMOD.PMID_15983957_F2_individual_II_1 biolink:Case F2 individual II:1 FEMALE phenopacket.store:UMOD.PMID_14569098_F2_individual_5 biolink:Case F2 individual 5 phenopacket.store:UMOD.PMID_33574344_individual_F11 biolink:Case individual F11 MALE phenopacket.store:UMOD.PMID_23197950_index biolink:Case index MALE phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_111 biolink:Case Family FGGR individual 111 MALE phenopacket.store:UMOD.PMID_15983957_F1_individual_I_1 biolink:Case F1 individual I:1 MALE phenopacket.store:UMOD.PMID_14569098_F1_individual_10 biolink:Case F1 individual 10 phenopacket.store:UMOD.PMID_14569098_F2_individual_1 biolink:Case F2 individual 1 phenopacket.store:UMOD.PMID_32274456_Family_FGJF_individual_3 biolink:Case Family FGJF individual 3 FEMALE phenopacket.store:UMOD.PMID_17245395_Family_K11_individual_I_1 biolink:Case Family K11 individual  I-1 FEMALE phenopacket.store:UMOD.PMID_14531790_F762_individual_III_11 biolink:Case F762 individual III-11 MALE phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_118 biolink:Case Family FGCM individual 118 MALE phenopacket.store:UMOD.PMID_14569098_F1_individual_5 biolink:Case F1 individual 5 phenopacket.store:UMOD.PMID_33574344_individual_F10 biolink:Case individual F10 FEMALE phenopacket.store:UMOD.PMID_33574344_individual_F5 biolink:Case individual F5 MALE phenopacket.store:UMOD.PMID_32847529_Family_FGCO_individual_122 biolink:Case Family FGCO individual 122 FEMALE phenopacket.store:UMOD.PMID_14531790_F762_individual_III_5 biolink:Case F762 individual III-5 FEMALE phenopacket.store:UMOD.PMID_27764983_Family_1_individual_MdJ biolink:Case Family 1 individual MdJ FEMALE phenopacket.store:UMOD.PMID_31068150_index_patient biolink:Case index patient MALE phenopacket.store:UMOD.PMID_14569098_F4_individual_2 biolink:Case F4 individual 2 phenopacket.store:UMOD.PMID_27729211_III_1 biolink:Case III.1 MALE phenopacket.store:UMOD.PMID_32274456_Family_FGGR_individual_311 biolink:Case Family FGGR individual 311 MALE phenopacket.store:UMOD.PMID_28509303_father biolink:Case father MALE phenopacket.store:UMOD.PMID_15983957_F3_individual_II_2 biolink:Case F3 individual II:2 MALE phenopacket.store:UMOD.PMID_32274456_Family_FGCM_individual_112 biolink:Case Family FGCM individual 112 MALE phenopacket.store:UMOD.PMID_14569098_F4_individual_1 biolink:Case F4 individual 1 phenopacket.store:UMOD.PMID_14569098_F1_individual_8 biolink:Case F1 individual 8 phenopacket.store:UMOD.PMID_23988501_Family_F1_individual_II_2 biolink:Case Family F1 individual II-2 MALE phenopacket.store:UMOD.PMID_15673476_son biolink:Case son MALE phenopacket.store:UMOD.PMID_14531790_F524_individual_II_4 biolink:Case F524 individual II-4 MALE phenopacket.store:UMOD.PMID_23988501_Family_F3_individual_IV_8 biolink:Case Family F3 individual IV-8 FEMALE phenopacket.store:UMOD.PMID_23988501_Family_F2_individual_II_1 biolink:Case Family F2 individual II-1 MALE phenopacket.store:UMOD.PMID_32274456_Family_FGIT_individual_12 biolink:Case Family FGIT individual 12 MALE phenopacket.store:UMOD.PMID_14569098_F9_individual_1 biolink:Case F9 individual 1 phenopacket.store:UMOD.PMID_23197950_brother biolink:Case brother MALE phenopacket.store:UMOD.PMID_22034507_DIV_2 biolink:Case DIV.2 FEMALE phenopacket.store:UMOD.PMID_14569098_F10_individual_1 biolink:Case F10 individual 1 phenopacket.store:UMOD.PMID_14531790_F739_individual_II_1 biolink:Case F739 individual II-1 MALE phenopacket.store:UMOD.PMID_18950917_boy biolink:Case boy MALE phenopacket.store:UMOD.PMID_15983957_F1_individual_III_4 biolink:Case F1 individual III:4 MALE phenopacket.store:UMOD.PMID_27729211_III_7 biolink:Case III.7 MALE phenopacket.store:UMOD.PMID_15983957_F1_individual_IV_1 biolink:Case F1 individual IV:1 MALE phenopacket.store:UMOD.PMID_15983957_F1_individual_III_5 biolink:Case F1 individual III:5 MALE phenopacket.store:UMOD.PMID_14531790_F762_individual_IV_2 biolink:Case F762 individual IV-2 MALE phenopacket.store:UMOD.PMID_29513881_III_9 biolink:Case III:9 FEMALE phenopacket.store:UMOD.PMID_15844001_child biolink:Case child MALE phenopacket.store:UMOD.PMID_17245395_Family_A214_I_1 biolink:Case Family A214 I-1 MALE phenopacket.store:UMOD.PMID_20151160_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:USB1.PMID_27247962_USB1_patient biolink:Case USB1 patient phenopacket.store:VCP.PMID_19208399_Patient_II_3 biolink:Case Patient II-3 MALE phenopacket.store:VPS13A.PMID_28446873_Case_1 biolink:Case Case 1 MALE phenopacket.store:VPS13A.PMID_28446873_Case_2 biolink:Case Case 2 FEMALE phenopacket.store:VPS13B.PMID_29149870_brother biolink:Case brother MALE phenopacket.store:VPS13B.PMID_29149870_proposita biolink:Case proposita FEMALE phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_C biolink:Case II-1 from Family C FEMALE phenopacket.store:VPS13C.PMID_26942284_V_2_from_Family_A biolink:Case V-2 from Family A FEMALE phenopacket.store:VPS13C.PMID_28862745_PD_Case_5 biolink:Case PD Case 5 FEMALE phenopacket.store:VPS13C.PMID_26942284_II_1_from_Family_B biolink:Case II-1 from Family B MALE phenopacket.store:VRK1.PMID_31090908_II.2 biolink:Case II.2 FEMALE phenopacket.store:VRK1.PMID_24126608_BAB3280 biolink:Case BAB3280 FEMALE phenopacket.store:VRK1.PMID_24126608_BAB3022 biolink:Case BAB3022 FEMALE phenopacket.store:VRK1.PMID_31837156_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:VRK1.PMID_30847374_V-1 biolink:Case V-1 MALE phenopacket.store:VRK1.PMID_31090908_II.3 biolink:Case II.3 MALE phenopacket.store:VRK1.PMID_24126608_BAB5311 biolink:Case BAB5311 MALE phenopacket.store:VRK1.PMID_31837156_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:WBP4.PMID_37963460_Family_2_individual_II_1 biolink:Case Family 2 individual II:1 MALE phenopacket.store:WBP4.PMID_37963460_Family_7_individual_II_1 biolink:Case Family 7 individual II:1 FEMALE phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_4 biolink:Case Family 1 individual III:4 FEMALE phenopacket.store:WBP4.PMID_37963460_Family_8_individual_II_1 biolink:Case Family 8 individual II:1 FEMALE phenopacket.store:WBP4.PMID_37963460_Family_4_individual_III_2 biolink:Case Family 4 individual III:2 FEMALE phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_6 biolink:Case Family 5 individual II:6 FEMALE phenopacket.store:WBP4.PMID_37963460_Family_5_individual_II_3 biolink:Case Family 5 individual II:3 FEMALE phenopacket.store:WBP4.PMID_37963460_Family_6_individual_II_1 biolink:Case Family 6 individual II:1 MALE phenopacket.store:WBP4.PMID_37963460_Family_3_individual_II_2 biolink:Case Family 3 individual II:2 FEMALE phenopacket.store:WBP4.PMID_37963460_Family_1_individual_III_1 biolink:Case Family 1 individual III:1 MALE phenopacket.store:WDR26.PMID_28686853_Individual_1 biolink:Case Individual 1 FEMALE phenopacket.store:WDR26.PMID_28686853_Individual_10 biolink:Case Individual 10 FEMALE phenopacket.store:WDR26.PMID_28686853_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:WDR26.PMID_28686853_Individual_11 biolink:Case Individual 11 FEMALE phenopacket.store:WDR26.PMID_28686853_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:WDR26.PMID_28686853_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:WDR26.PMID_28686853_Individual_14 biolink:Case Individual 14 FEMALE phenopacket.store:WDR26.PMID_28686853_Individual_3 biolink:Case Individual 3 FEMALE phenopacket.store:WDR26.PMID_28686853_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:WDR26.PMID_28686853_Individual_13 biolink:Case Individual 13 MALE phenopacket.store:WDR26.PMID_28686853_Individual_9 biolink:Case Individual 9 MALE phenopacket.store:WDR26.PMID_28686853_Individual_6 biolink:Case Individual 6 FEMALE phenopacket.store:WDR26.PMID_28686853_Individual_5 biolink:Case Individual 5 FEMALE phenopacket.store:WDR26.PMID_28686853_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:WDR26.PMID_28686853_Individual_12 biolink:Case Individual 12 FEMALE phenopacket.store:WFS1.PMID_9817917_Family_1_individual_13883 biolink:Case Family 1 individual 13883 FEMALE phenopacket.store:WFS1.PMID_9817917_Family_9_individual_13781 biolink:Case Family 9 individual 13781 MALE phenopacket.store:WFS1.PMID_9817917_Family_7_individual_13076 biolink:Case Family 7 individual 13076 MALE phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13776 biolink:Case Family 2 individual 13776 MALE phenopacket.store:WFS1.PMID_9817917_Family_1_individual_5519 biolink:Case Family 1 individual 5519 FEMALE phenopacket.store:WFS1.PMID_9817917_Family_6_individual_13062 biolink:Case Family 6 individual 13062 FEMALE phenopacket.store:WFS1.PMID_9817917_Family_4_individual_13070 biolink:Case Family 4 individual 13070 FEMALE phenopacket.store:WFS1.PMID_9817917_Family_2_individual_13775 biolink:Case Family 2 individual 13775 FEMALE phenopacket.store:WFS1.PMID_9817917_Family_5_individual_13885 biolink:Case Family 5 individual 13885 FEMALE phenopacket.store:WFS1.PMID_9817917_Family_8_individual_13073 biolink:Case Family 8 individual 13073 FEMALE phenopacket.store:WNK1.PMID_16636245_Case_report biolink:Case Case report MALE phenopacket.store:WNT1.PMID_30012084_older_sister biolink:Case older sister FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:WWOX.PMID_27495153_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:WWOX.PMID_25411445_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:WWOX.PMID_25411445_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_11 biolink:Case Patient 11 FEMALE phenopacket.store:WWOX.PMID_39416860_proband biolink:Case proband MALE phenopacket.store:WWOX.PMID_25411445_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:WWOX.PMID_25411445_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:WWOX.PMID_30356099_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:WWOX.PMID_39101447_case_presentation biolink:Case case presentation FEMALE phenopacket.store:WWOX.PMID_30094525_Case_report biolink:Case Case report FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_20 biolink:Case Patient 20 FEMALE phenopacket.store:WWOX.PMID_39507621_patient biolink:Case patient MALE phenopacket.store:WWOX.PMID_30356099_Patient_12 biolink:Case Patient 12 FEMALE phenopacket.store:WWOX.PMID_25411445_Abdel_Salam_et_al_II_4 biolink:Case Abdel-Salam et al II:4 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_9 biolink:Case Patient 9 MALE phenopacket.store:WWOX.PMID_30356099_Patient_14 biolink:Case Patient 14 MALE phenopacket.store:WWOX.PMID_24369382_Family_1_II_2 biolink:Case Family 1 II.2 FEMALE phenopacket.store:WWOX.PMID_24369382_Family_2_II_1 biolink:Case Family 2 II.1 MALE phenopacket.store:WWOX.PMID_30356099_Patient_17 biolink:Case Patient 17 MALE phenopacket.store:WWOX.PMID_30356099_Patient_10 biolink:Case Patient 10 MALE phenopacket.store:WWOX.PMID_30356099_Patient_13 biolink:Case Patient 13 FEMALE phenopacket.store:WWOX.PMID_25411445_Patient_5 biolink:Case Patient 5 FEMALE phenopacket.store:WWOX.PMID_27495153_Patient_1 biolink:Case Patient 1 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_6 biolink:Case Patient 6 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_18 biolink:Case Patient 18 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_2 biolink:Case Patient 2 FEMALE phenopacket.store:WWOX.PMID_24369382_Family_2_II_2 biolink:Case Family 2 II.2 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:WWOX.PMID_24369382_Family_1_II_3 biolink:Case Family 1 II.3 MALE phenopacket.store:WWOX.PMID_30356099_Patient_3 biolink:Case Patient 3 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_7 biolink:Case Patient 7 FEMALE phenopacket.store:WWOX.PMID_24369382_Family_1_II_1 biolink:Case Family 1 II.1 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:WWOX.PMID_30356099_Patient_19 biolink:Case Patient 19 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_15 biolink:Case Patient 15 MALE phenopacket.store:WWOX.PMID_24369382_Family_1_II_4 biolink:Case Family 1 II.4 FEMALE phenopacket.store:WWOX.PMID_30356099_Patient_16 biolink:Case Patient 16 MALE phenopacket.store:ZFX.PMID_38325380_Patient_3 biolink:Case Patient 3 MALE phenopacket.store:ZFX.PMID_38325380_Patient_11 biolink:Case Patient 11 MALE phenopacket.store:ZFX.PMID_38325380_Patient_14 biolink:Case Patient 14 FEMALE phenopacket.store:ZFX.PMID_38325380_Patient_2 biolink:Case Patient 2 MALE phenopacket.store:ZFX.PMID_38325380_Patient_6A biolink:Case Patient 6A MALE phenopacket.store:ZFX.PMID_39056049_Case_Presentation biolink:Case Case Presentation FEMALE phenopacket.store:ZFX.PMID_38325380_Patient_6C biolink:Case Patient 6C FEMALE phenopacket.store:ZFX.PMID_38325380_Patient_13 biolink:Case Patient 13 MALE phenopacket.store:ZFX.PMID_38325380_Patient_6B biolink:Case Patient 6B MALE phenopacket.store:ZFX.PMID_38325380_Patient_15 biolink:Case Patient 15 MALE phenopacket.store:ZFX.PMID_38325380_Patient_16 biolink:Case Patient 16 MALE phenopacket.store:ZFX.PMID_38325380_Patient_1 biolink:Case Patient 1 MALE phenopacket.store:ZFX.PMID_38325380_Patient_8 biolink:Case Patient 8 MALE phenopacket.store:ZFX.PMID_38325380_Patient_9 biolink:Case Patient 9 OTHER phenopacket.store:ZFX.PMID_38325380_Patient_7 biolink:Case Patient 7 MALE phenopacket.store:ZFX.PMID_38325380_Patient_4 biolink:Case Patient 4 FEMALE phenopacket.store:ZFX.PMID_38325380_Patient_5 biolink:Case Patient 5 MALE phenopacket.store:ZFX.PMID_38325380_Patient_12 biolink:Case Patient 12 MALE phenopacket.store:ZFX.PMID_38325380_Patient_10 biolink:Case Patient 10 MALE phenopacket.store:ZIC2.PMID_30855487_infant_girl biolink:Case infant girl FEMALE phenopacket.store:ZIC2.PMID_11479728_patient_13 biolink:Case patient 13 MALE phenopacket.store:ZIC3.PMID_17295247_Individual_III_3 biolink:Case Individual III.3 FEMALE phenopacket.store:ZIC3.PMID_17295247_Individual_III_2 biolink:Case Individual III.2 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_8 biolink:Case Individual 8 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_5 biolink:Case Individual 5 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_10 biolink:Case Individual 10 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_6 biolink:Case Individual 6 MALE phenopacket.store:ZMYM3.PMID_24721225_Patient_III_1 biolink:Case Patient III-1 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_11 biolink:Case Individual 11 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_25 biolink:Case Individual 25 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_4a biolink:Case Individual 4a MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_17 biolink:Case Individual 17 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_9b biolink:Case Individual 9b MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_16 biolink:Case Individual 16 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_18 biolink:Case Individual 18 FEMALE phenopacket.store:ZMYM3.PMID_24721225_Patient_III_2 biolink:Case Patient III-2 MALE phenopacket.store:ZMYM3.PMID_24721225_Patient_III_3 biolink:Case Patient III-3 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_2 biolink:Case Individual 2 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_21 biolink:Case Individual 21 MALE phenopacket.store:ZMYM3.PMID_24721225_III_3 biolink:Case III-3 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_15 biolink:Case Individual 15 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_9a biolink:Case Individual 9a MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_4b biolink:Case Individual 4b MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_19 biolink:Case Individual 19 FEMALE phenopacket.store:ZMYM3.PMID_36586412_Individual_12 biolink:Case Individual 12 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_14 biolink:Case Individual 14 MALE phenopacket.store:ZMYM3.PMID_24721225_III_2 biolink:Case III-2 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_22 biolink:Case Individual 22 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_20 biolink:Case Individual 20 FEMALE phenopacket.store:ZMYM3.PMID_36586412_Individual_23 biolink:Case Individual 23 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_24 biolink:Case Individual 24 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_7 biolink:Case Individual 7 MALE phenopacket.store:ZMYM3.PMID_36586412_Individual_13 biolink:Case Individual 13 MALE phenopacket.store:ZMYM3.PMID_24721225_III_1 biolink:Case III-1 MALE phenopacket.store:ZNF462.PMID_39069253_individual_34_Zhao_et_al biolink:Case individual 34-Zhao et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_30_González_Tarancón_et_al biolink:Case individual 30-González-Tarancón et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_31_Park_et_al biolink:Case individual 31-Park et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_27_Kruszka_et_al biolink:Case individual 27-Kruszka et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_9_Weiss_et_al biolink:Case individual 9-Weiss et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_17_Kruszka_et_al biolink:Case individual 17-Kruszka et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_25_Kruszka_et_al biolink:Case individual 25-Kruszka et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_12_Weiss_et_al biolink:Case individual 12-Weiss et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_6_Weiss_et_al biolink:Case individual 6-Weiss et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_19_Kruszka_et_al biolink:Case individual 19-Kruszka et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_33_Pellino_et_al biolink:Case individual 33-Pellino et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_1_Current biolink:Case individual 1-Current MALE phenopacket.store:ZNF462.PMID_39069253_individual_2_Current biolink:Case individual 2-Current MALE phenopacket.store:ZNF462.PMID_39069253_individual_28_Kruszka_et_al biolink:Case individual 28-Kruszka et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_36_Constantinou_et_al biolink:Case individual 36-Constantinou et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_23_Kruszka_et_al biolink:Case individual 23-Kruszka et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_8_Weiss_et_al biolink:Case individual 8-Weiss et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_7_Weiss_et_al biolink:Case individual 7-Weiss et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_37_Brady_et_al biolink:Case individual 37-Brady et al. phenopacket.store:ZNF462.PMID_39069253_individual_20_Kruszka_et_al biolink:Case individual 20-Kruszka et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_29_Kruszka_et_al biolink:Case individual 29-Kruszka et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_18_Kruszka_et_al biolink:Case individual 18-Kruszka et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_35_Zhao_et_al biolink:Case individual 35-Zhao et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_3_Current biolink:Case individual 3-Current FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_15_Kruszka_et_al biolink:Case individual 15-Kruszka et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_14_Cosemans_et_al biolink:Case individual 14-Cosemans et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_39_Brady_et_al biolink:Case individual 39-Brady et al. phenopacket.store:ZNF462.PMID_39069253_individual_16_Kruszka_et_al biolink:Case individual 16-Kruszka et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_13_Weiss_et_al biolink:Case individual 13-Weiss et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_4_Zhou_et_al biolink:Case individual 4-Zhou et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_11_Weiss_et_al biolink:Case individual 11-Weiss et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_22_Kruszka_et_al biolink:Case individual 22-Kruszka et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_5_Ramocki_et_al biolink:Case individual 5-Ramocki et al. FEMALE phenopacket.store:ZNF462.PMID_39069253_individual_32_Iivonen_et_al biolink:Case individual 32-Iivonen et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_10_Weiss_et_al biolink:Case individual 10-Weiss et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_38_Brady_et_al biolink:Case individual 38-Brady et al. phenopacket.store:ZNF462.PMID_39069253_individual_24_Kruszka_et_al biolink:Case individual 24-Kruszka et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_26_Kruszka_et_al biolink:Case individual 26-Kruszka et al. MALE phenopacket.store:ZNF462.PMID_39069253_individual_21_Kruszka_et_al biolink:Case individual 21-Kruszka et al. MALE phenopacket.store:ZSWIM6.PMID_25105228_Individual_3 biolink:Case Individual 3 MALE phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_7 biolink:Case p.Arg913Ter Affected Individual 7 MALE phenopacket.store:ZSWIM6.PMID_26706854_Subject_2 biolink:Case Subject 2 MALE phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-1 biolink:Case Subject 1-1 FEMALE phenopacket.store:ZSWIM6.PMID_25105228_Individual_4 biolink:Case Individual 4 FEMALE phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_3 biolink:Case p.Arg913Ter Affected Individual 3 FEMALE phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_5 biolink:Case p.Arg913Ter Affected Individual 5 FEMALE phenopacket.store:ZSWIM6.PMID_33776626_fetus biolink:Case fetus MALE phenopacket.store:ZSWIM6.PMID_25105228_Individual_2 biolink:Case Individual 2 FEMALE phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_6 biolink:Case p.Arg913Ter Affected Individual 6 MALE phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_1 biolink:Case p.Arg913Ter Affected Individual 1 MALE phenopacket.store:ZSWIM6.PMID_26706854_Subject_1-2 biolink:Case Subject 1-2 MALE phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_4 biolink:Case p.Arg913Ter Affected Individual 4 FEMALE phenopacket.store:ZSWIM6.PMID_29198722_p.Arg913Ter_Affected_Individual_2 biolink:Case p.Arg913Ter Affected Individual 2 FEMALE phenopacket.store:ZSWIM6.PMID_25105228_Individual_1 biolink:Case Individual 1 MALE phenopacket.store:ZSWIM6.PMID_26706854_Subject_3 biolink:Case Subject 3 FEMALE