@prefix : <https://monarchinitiative.org/> .
@prefix DOID: <http://purl.obolibrary.org/obo/DOID_> .
@prefix FlyBase: <http://flybase.org/reports/> .
@prefix GENO: <http://purl.obolibrary.org/obo/GENO_> .
@prefix HP: <http://purl.obolibrary.org/obo/HP_> .
@prefix MonarchArchive: <https://archive.monarchinitiative.org/201710/> .
@prefix MonarchData: <https://data.monarchinitiative.org/ttl/> .
@prefix NCBIGene: <http://www.ncbi.nlm.nih.gov/gene/> .
@prefix NCBITaxon: <http://purl.obolibrary.org/obo/NCBITaxon_> .
@prefix OBO: <http://purl.obolibrary.org/obo/> .
@prefix RO: <http://purl.obolibrary.org/obo/RO_> .
@prefix SO: <http://purl.obolibrary.org/obo/SO_> .
@prefix dbSNP: <http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=> .
@prefix foaf: <http://xmlns.com/foaf/0.1/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xml: <http://www.w3.org/XML/1998/namespace> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

OBO:GENO_0000222 a owl:ObjectProperty .

OBO:GENO_0000382 a owl:ObjectProperty .

OBO:GENO_0000418 a owl:ObjectProperty .

OBO:RO_0002162 a owl:ObjectProperty .

OBO:RO_0002200 a owl:ObjectProperty .

<http://purl.org/dc/elements/1.1/source> a owl:ObjectProperty .

rdfs:label a owl:AnnotationProperty .

MonarchData:udp.ttl a owl:Ontology ;
    owl:versionIRI <https://archive.monarchinitiative.org/201803/ttl/udp.ttl> ;
    owl:versionInfo "2017-10-05" .

<https://monarchinitiative.org/MONARCH:c000001> a foaf:Person ;
    rdfs:label "MONARCH:c000001" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/ba1bde07dc2108a6> ;
    OBO:RO_0002200 OBO:DOID_4,
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        OBO:HP_0000960,
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<https://monarchinitiative.org/MONARCH:c000002> a foaf:Person ;
    rdfs:label "MONARCH:c000002" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b91c92269b05fe2d> ;
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        OBO:HP_0030190 .

<https://monarchinitiative.org/MONARCH:c000003> a foaf:Person ;
    rdfs:label "MONARCH:c000003" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/bbbe32cf787e8efd> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000028,
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        OBO:HP_0004322,
        OBO:HP_0010862,
        OBO:HP_0010864 .

<https://monarchinitiative.org/MONARCH:c000004> a foaf:Person ;
    rdfs:label "MONARCH:c000004" ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000613,
        OBO:HP_0001047,
        OBO:HP_0001250,
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        OBO:HP_0001433,
        OBO:HP_0001891,
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        OBO:HP_0002650,
        OBO:HP_0003119,
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        OBO:HP_0100512 .

<https://monarchinitiative.org/MONARCH:c000005> a foaf:Person ;
    rdfs:label "MONARCH:c000005" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b41f8a859ed9fd12> ;
    OBO:RO_0002200 OBO:DOID_4,
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<https://monarchinitiative.org/MONARCH:c000006> a foaf:Person ;
    rdfs:label "MONARCH:c000006" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/bcb306cac8cd35f9> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000028,
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<https://monarchinitiative.org/MONARCH:c000007> a foaf:Person ;
    rdfs:label "MONARCH:c000007" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b181649f9be71588> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000020,
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        OBO:HP_0012753 .

<https://monarchinitiative.org/MONARCH:c000008> a foaf:Person ;
    rdfs:label "MONARCH:c000008" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b8774898120747d2> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0001489,
        OBO:HP_0001598,
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        OBO:HP_0012378,
        OBO:HP_0012531 .

<https://monarchinitiative.org/MONARCH:c000009> a foaf:Person ;
    rdfs:label "MONARCH:c000009" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/badd72fa067dae42> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000010,
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<https://monarchinitiative.org/MONARCH:c000010> a foaf:Person ;
    rdfs:label "MONARCH:c000010" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b7071504f8873194> ;
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<https://monarchinitiative.org/MONARCH:c000011> a foaf:Person ;
    rdfs:label "MONARCH:c000011" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b03b2b76112c370f> ;
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<https://monarchinitiative.org/MONARCH:c000012> a foaf:Person ;
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    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/baccb6c4b216414f> ;
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<https://monarchinitiative.org/MONARCH:c000013> a foaf:Person ;
    rdfs:label "MONARCH:c000013" ;
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<https://monarchinitiative.org/MONARCH:c000014> a foaf:Person ;
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<https://monarchinitiative.org/MONARCH:c000015> a foaf:Person ;
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<https://monarchinitiative.org/MONARCH:c000016> a foaf:Person ;
    rdfs:label "MONARCH:c000016" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/bd78e3bd4d6760f4> ;
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<https://monarchinitiative.org/MONARCH:c000017> a foaf:Person ;
    rdfs:label "MONARCH:c000017" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b8f1987ed783f795> ;
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        OBO:HP_0100806,
        OBO:HP_0200097 .

<https://monarchinitiative.org/MONARCH:c000018> a foaf:Person ;
    rdfs:label "MONARCH:c000018" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b0895d5d2cbf6b74> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000365,
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        OBO:HP_0001955,
        OBO:HP_0002315,
        OBO:HP_0012229,
        OBO:HP_0030166 .

<https://monarchinitiative.org/MONARCH:c000019> a foaf:Person ;
    rdfs:label "MONARCH:c000019" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b41c2e7ee57bc0c9> ;
    OBO:RO_0002200 OBO:DOID_4,
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        OBO:HP_0000823,
        OBO:HP_0001256,
        OBO:HP_0001290,
        OBO:HP_0001831,
        OBO:HP_0002307,
        OBO:HP_0002403,
        OBO:HP_0002944,
        OBO:HP_0003186,
        OBO:HP_0005280,
        OBO:HP_0008523,
        OBO:HP_0012166 .

<https://monarchinitiative.org/MONARCH:c000020> a foaf:Person ;
    rdfs:label "MONARCH:c000020" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b5301058fc61349d> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000124,
        OBO:HP_0000256,
        OBO:HP_0000337,
        OBO:HP_0000407,
        OBO:HP_0000508,
        OBO:HP_0000510,
        OBO:HP_0000543,
        OBO:HP_0000565,
        OBO:HP_0000577,
        OBO:HP_0000750,
        OBO:HP_0000762,
        OBO:HP_0000938,
        OBO:HP_0000958,
        OBO:HP_0000967,
        OBO:HP_0001239,
        OBO:HP_0001250,
        OBO:HP_0001263,
        OBO:HP_0001290,
        OBO:HP_0001298,
        OBO:HP_0001337,
        OBO:HP_0001344,
        OBO:HP_0001376,
        OBO:HP_0001531,
        OBO:HP_0001662,
        OBO:HP_0001873,
        OBO:HP_0002045,
        OBO:HP_0002123,
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        OBO:HP_0002141,
        OBO:HP_0002187,
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        OBO:HP_0002376,
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        OBO:HP_0002500,
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        OBO:HP_0002540,
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        OBO:HP_0002835,
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        OBO:HP_0003645,
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        OBO:HP_0006855,
        OBO:HP_0007266,
        OBO:HP_0011220,
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        OBO:HP_0011968,
        OBO:HP_0012650,
        OBO:HP_0012677,
        OBO:HP_0012708,
        OBO:HP_0100874 .

<https://monarchinitiative.org/MONARCH:c000021> a foaf:Person ;
    rdfs:label "MONARCH:c000021" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/bfeb1f1a6925aa75> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000212,
        OBO:HP_0000218,
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        OBO:HP_0000601,
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        OBO:HP_0001250,
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        OBO:HP_0001357,
        OBO:HP_0001518,
        OBO:HP_0001562,
        OBO:HP_0001623,
        OBO:HP_0001643,
        OBO:HP_0001657,
        OBO:HP_0002020,
        OBO:HP_0002059,
        OBO:HP_0002121,
        OBO:HP_0002123,
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        OBO:HP_0002197,
        OBO:HP_0002384,
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        OBO:HP_0002521,
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        OBO:HP_0003445,
        OBO:HP_0003561,
        OBO:HP_0005484,
        OBO:HP_0006311,
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        OBO:HP_0006926,
        OBO:HP_0006994,
        OBO:HP_0007359,
        OBO:HP_0007502,
        OBO:HP_0007703,
        OBO:HP_0011082,
        OBO:HP_0011201,
        OBO:HP_0011203,
        OBO:HP_0011357,
        OBO:HP_0011410,
        OBO:HP_0011451,
        OBO:HP_0011924,
        OBO:HP_0012371,
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        OBO:HP_0012535,
        OBO:HP_0012706,
        OBO:HP_0012708,
        OBO:HP_0100277,
        OBO:HP_0100512,
        OBO:HP_0100704,
        OBO:HP_0100960 .

<https://monarchinitiative.org/MONARCH:c000022> a foaf:Person ;
    rdfs:label "MONARCH:c000022" ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0001265,
        OBO:HP_0001271,
        OBO:HP_0002204,
        OBO:HP_0002380,
        OBO:HP_0002878,
        OBO:HP_0003198,
        OBO:HP_0003323,
        OBO:HP_0003401,
        OBO:HP_0007002,
        OBO:HP_0007354,
        OBO:HP_0009027,
        OBO:HP_0009113,
        OBO:HP_0010535,
        OBO:HP_0012532,
        OBO:HP_0012764 .

<https://monarchinitiative.org/MONARCH:c000023> a foaf:Person ;
    rdfs:label "MONARCH:c000023" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/be536a9b8129378d> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000821,
        OBO:HP_0000822,
        OBO:HP_0001288,
        OBO:HP_0001324,
        OBO:HP_0001646,
        OBO:HP_0001659,
        OBO:HP_0002355,
        OBO:HP_0002617,
        OBO:HP_0003077,
        OBO:HP_0003445,
        OBO:HP_0007340,
        OBO:HP_0100576 .

<https://monarchinitiative.org/MONARCH:c000024> a foaf:Person ;
    rdfs:label "MONARCH:c000024" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/ba38d01696a9c71a> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000062,
        OBO:HP_0000750,
        OBO:HP_0001257,
        OBO:HP_0001276,
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        OBO:HP_0001622,
        OBO:HP_0002011,
        OBO:HP_0002059,
        OBO:HP_0002072,
        OBO:HP_0002376,
        OBO:HP_0002383,
        OBO:HP_0006101,
        OBO:HP_0006895,
        OBO:HP_0010301,
        OBO:HP_0010543,
        OBO:HP_0011398 .

<https://monarchinitiative.org/MONARCH:c000025> a foaf:Person ;
    rdfs:label "MONARCH:c000025" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b26a166770916c40> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000103,
        OBO:HP_0000126,
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        OBO:HP_0012841,
        OBO:HP_0040075,
        OBO:HP_0100704,
        OBO:HP_0100738,
        OBO:HP_0200134 .

<https://monarchinitiative.org/MONARCH:c000026> a foaf:Person ;
    rdfs:label "MONARCH:c000026" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/bed8f1847d1ef748> ;
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        OBO:HP_0040025,
        OBO:HP_0100309,
        OBO:HP_0100716,
        OBO:HP_0100767,
        OBO:HP_0200055 .

<https://monarchinitiative.org/MONARCH:c000027> a foaf:Person ;
    rdfs:label "MONARCH:c000027" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b9fa31d5f481f0e2> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000016,
        OBO:HP_0000802,
        OBO:HP_0002061,
        OBO:HP_0002191,
        OBO:HP_0002495,
        OBO:HP_0002607,
        OBO:HP_0008944 .

<https://monarchinitiative.org/MONARCH:c000028> a foaf:Person ;
    rdfs:label "MONARCH:c000028" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b22316e4fb326875> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000180,
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        OBO:HP_0012473,
        OBO:HP_0040079,
        OBO:HP_0100543,
        OBO:HP_0100807,
        OBO:HP_0200055 .

<https://monarchinitiative.org/MONARCH:c000029> a foaf:Person ;
    rdfs:label "MONARCH:c000029" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b921ba45d18ffe73> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000405,
        OBO:HP_0000486,
        OBO:HP_0000518,
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        OBO:HP_0003561,
        OBO:HP_0004322,
        OBO:HP_0004325,
        OBO:HP_0011398,
        OBO:HP_0200055 .

<https://monarchinitiative.org/MONARCH:c000030> a foaf:Person ;
    rdfs:label "MONARCH:c000030" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b1582b12720d3a34> ;
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        OBO:HP_0012446,
        OBO:HP_0012450,
        OBO:HP_0030048,
        OBO:HP_0030148,
        OBO:HP_0100750 .

<https://monarchinitiative.org/MONARCH:c000031> a foaf:Person ;
    rdfs:label "MONARCH:c000031" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b3be1b2f9b3359b3> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000020,
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        OBO:HP_0010873,
        OBO:HP_0011675,
        OBO:HP_0012079,
        OBO:HP_0030057,
        OBO:HP_0100828 .

<https://monarchinitiative.org/MONARCH:c000032> a foaf:Person ;
    rdfs:label "MONARCH:c000032" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b961ab1931f4a36b> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000481,
        OBO:HP_0003390,
        OBO:HP_0006858,
        OBO:HP_0007002 .

<https://monarchinitiative.org/MONARCH:c000033> a foaf:Person ;
    rdfs:label "MONARCH:c000033" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/bd62d2247971d3b0> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0001256,
        OBO:HP_0002194,
        OBO:HP_0003325,
        OBO:HP_0003487,
        OBO:HP_0007018 .

<https://monarchinitiative.org/MONARCH:c000034> a foaf:Person ;
    rdfs:label "MONARCH:c000034" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b322e5e0e3259522> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000020,
        OBO:HP_0000750,
        OBO:HP_0000938,
        OBO:HP_0001257,
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        OBO:HP_0001332,
        OBO:HP_0001634,
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        OBO:HP_0002650,
        OBO:HP_0009816,
        OBO:HP_0009824,
        OBO:HP_0010862,
        OBO:HP_0010864 .

<https://monarchinitiative.org/MONARCH:c000035> a foaf:Person ;
    rdfs:label "MONARCH:c000035" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/b7c4738b34e897ae> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000708,
        OBO:HP_0000717,
        OBO:HP_0000722,
        OBO:HP_0000729,
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        OBO:HP_0001328,
        OBO:HP_0003737,
        OBO:HP_0005263,
        OBO:HP_0012395,
        OBO:HP_0012446 .

<https://monarchinitiative.org/MONARCH:c000036> a foaf:Person ;
    rdfs:label "MONARCH:c000036" ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000622,
        OBO:HP_0001257,
        OBO:HP_0001824,
        OBO:HP_0002127,
        OBO:HP_0002315,
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        OBO:HP_0003202,
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        OBO:HP_0011446,
        OBO:HP_0011448,
        OBO:HP_0012378,
        OBO:HP_0012473,
        OBO:HP_0012532 .

<https://monarchinitiative.org/MONARCH:c000037> a foaf:Person ;
    rdfs:label "MONARCH:c000037" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/bac445fbf9db8917> ;
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        OBO:HP_0100512,
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        OBO:HP_0100814,
        OBO:HP_0200134 .

<https://monarchinitiative.org/MONARCH:c000038> a foaf:Person ;
    rdfs:label "MONARCH:c000038" ;
    OBO:GENO_0000222 <https://monarchinitiative.org/.well-known/genid/bd4614a49479b6e6> ;
    OBO:RO_0002200 OBO:DOID_4,
        OBO:HP_0000089,
        OBO:HP_0000138,
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        OBO:HP_0000739,
        OBO:HP_0000762,
        OBO:HP_0001227,
        OBO:HP_0001324,
        OBO:HP_0002136,
        OBO:HP_0002321,
        OBO:HP_0002355,
        OBO:HP_0002366,
        OBO:HP_0002450,
        OBO:HP_0002460,
        OBO:HP_0002522,
        OBO:HP_0002936,
        OBO:HP_0003376,
        OBO:HP_0003457,
        OBO:HP_0003551,
        OBO:HP_0003552,
        OBO:HP_0004303,
        OBO:HP_0007002,
        OBO:HP_0007267,
        OBO:HP_0008366,
        OBO:HP_0008944,
        OBO:HP_0012391,
        OBO:HP_0012805,
        OBO:HP_0040083,
        OBO:HP_0100304 .

:MONARCH_anonymous a owl:AnnotationProperty .

:MONARCH_cliqueLeader a owl:AnnotationProperty .

<https://monarchinitiative.org/.well-known/genid/b01134d39d9b55ea> a OBO:SO_0001059 ;
    rdfs:label "hg19chr11:g.111635566C>T" ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs1805076 .

<https://monarchinitiative.org/.well-known/genid/b03084fd6bf30bcb> a OBO:SO_0001059 ;
    rdfs:label "hg19chr12(CACNA1C):g.2675627G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/775> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs367644389 .

<https://monarchinitiative.org/.well-known/genid/b03b2b76112c370f> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000011 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b192a2da0ab079f2>,
        <https://monarchinitiative.org/.well-known/genid/b1b7d26d19edf10e>,
        <https://monarchinitiative.org/.well-known/genid/b896b2c938986271>,
        <https://monarchinitiative.org/.well-known/genid/bd82eeaca18bad21>,
        <https://monarchinitiative.org/.well-known/genid/be49b6f58bcc81cc> .

<https://monarchinitiative.org/.well-known/genid/b04d26af54956954> a OBO:SO_0001059 ;
    rdfs:label "hg19chr19(CAPN12):g.39224811G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/147968> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs375825467 .

<https://monarchinitiative.org/.well-known/genid/b05c40a971a21a17> a OBO:SO_0001059 ;
    rdfs:label "hg19chr16(WDR59):g.74949784C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/79726> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b062e4a72c4bfa41> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(DRP2):g.100490948C>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/1821> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b0895d5d2cbf6b74> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000018 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b7a14490ae554b89>,
        <https://monarchinitiative.org/.well-known/genid/bad1ab4e25dbde6d> .

<https://monarchinitiative.org/.well-known/genid/b08c005b40393c93> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(PNCK):g.152936030G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/139728> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b113fb270d5a09a6> a OBO:SO_0001059 ;
    rdfs:label "hg19chr22:g.50648641A>G" ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs201643496 .

<https://monarchinitiative.org/.well-known/genid/b1582b12720d3a34> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000030 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b2e2cd5e97f78d92>,
        <https://monarchinitiative.org/.well-known/genid/b3aeee9b7f48a85c>,
        <https://monarchinitiative.org/.well-known/genid/b3c923f7e5b0d5c2>,
        <https://monarchinitiative.org/.well-known/genid/b5b34b7d60905ee4>,
        <https://monarchinitiative.org/.well-known/genid/ba74a2c477b85868>,
        <https://monarchinitiative.org/.well-known/genid/ba9e128d62e176ae>,
        <https://monarchinitiative.org/.well-known/genid/bcbc71595947af32>,
        <https://monarchinitiative.org/.well-known/genid/bffc60e96c72407c> .

<https://monarchinitiative.org/.well-known/genid/b158d346821fbf82> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(FBXO44):g.11718797G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/93611> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs142346784 .

<https://monarchinitiative.org/.well-known/genid/b181649f9be71588> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000007 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b465c5d2e0367098>,
        <https://monarchinitiative.org/.well-known/genid/b76f055b36fd715f>,
        <https://monarchinitiative.org/.well-known/genid/ba7997e092c251c6>,
        <https://monarchinitiative.org/.well-known/genid/baed37ce0df90fd2> .

<https://monarchinitiative.org/.well-known/genid/b1912bbe5770b995> a OBO:SO_0001059 ;
    rdfs:label "hg19chr13(CUL4A):g.113887643C>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/8451> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b192a2da0ab079f2> a OBO:SO_0001059 ;
    rdfs:label "chr1(CHML):g.241799045" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/1122> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b1a5ae1b92e9c10e> a OBO:SO_0001059 ;
    rdfs:label "chr16(SEZ6L2):g.C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/26470> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b1b7d26d19edf10e> a OBO:SO_0001059 ;
    rdfs:label "hg19chr6(KLC4):g.43039337G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/89953> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs146957924 .

<https://monarchinitiative.org/.well-known/genid/b1b9a4af717fbd07> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(USH2A):g.216462627C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/7399> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs146824138 .

<https://monarchinitiative.org/.well-known/genid/b1ef95d59e16f4a2> a OBO:SO_0001059 ;
    rdfs:label "hg19chr4(SH3TC1):g.8229378C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/54436> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs139890356 .

<https://monarchinitiative.org/.well-known/genid/b222ffa23cbeddd1> a OBO:SO_0001059 ;
    rdfs:label "hg19chr10(DLG5):g.79601797C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/9231> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b22316e4fb326875> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000028 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/bdc0cc81dcd366bf> .

<https://monarchinitiative.org/.well-known/genid/b26a166770916c40> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000025 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b1ef95d59e16f4a2>,
        <https://monarchinitiative.org/.well-known/genid/b39e6247a91d2f4e>,
        <https://monarchinitiative.org/.well-known/genid/b4a5e23334fd1a86>,
        <https://monarchinitiative.org/.well-known/genid/b9b1e6a23c2cdac4>,
        <https://monarchinitiative.org/.well-known/genid/bc589279a8c50939> .

<https://monarchinitiative.org/.well-known/genid/b2bf3124857470ce> a OBO:SO_0001059 ;
    rdfs:label "hg19chr19(HIF3A):g.46807297A>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/64344> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b2e2cd5e97f78d92> a OBO:SO_0001059 ;
    rdfs:label "hg19chr6(MDC1):g.30671813G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/9656> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs201419005 .

<https://monarchinitiative.org/.well-known/genid/b2ea33d1da1caf11> a OBO:SO_0001059 ;
    rdfs:label "hg19chr4(WHSC1):g.1980582delGAAGGG" ;
    OBO:GENO_0000418 FlyBase:FBog0000384493 ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b30c9ab9893faae9> a OBO:SO_0001059 ;
    rdfs:label "hg19chr7(INTS1):g.1543538C>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/26173> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b322e5e0e3259522> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000034 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/be49b6f58bcc81cc> .

<https://monarchinitiative.org/.well-known/genid/b35d146d9222431e> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(KDM5C):g.53227930delC" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/8242> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b382ea142ecfe11f> a OBO:SO_0001059 ;
    rdfs:label "hg19chr8(UBE2V2):g.48962462A>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/7336> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs778228088 .

<https://monarchinitiative.org/.well-known/genid/b387fa8b7e53ad3f> a OBO:SO_0001059 ;
    rdfs:label "chrX(AKAP14):g.119030229C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/158798> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs143515418 .

<https://monarchinitiative.org/.well-known/genid/b39e6247a91d2f4e> a OBO:SO_0001059 ;
    rdfs:label "hg19chr20(HSPA12B):g.3725553T>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/116835> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs140210757 .

<https://monarchinitiative.org/.well-known/genid/b3aeee9b7f48a85c> a OBO:SO_0001059 ;
    rdfs:label "hg19chr9(GBA2):g.35744354C>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/57704> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs148826503 .

<https://monarchinitiative.org/.well-known/genid/b3be1b2f9b3359b3> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000031 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b1b9a4af717fbd07>,
        <https://monarchinitiative.org/.well-known/genid/b6541e93f35860eb>,
        <https://monarchinitiative.org/.well-known/genid/b76615be58717397> .

<https://monarchinitiative.org/.well-known/genid/b3c923f7e5b0d5c2> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(HSPG2):g.22217095C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/3339> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs144511257 .

<https://monarchinitiative.org/.well-known/genid/b3dff2e4c3f5c760> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(SLFNL1):g.41483043G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/200172> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs368131684 .

<https://monarchinitiative.org/.well-known/genid/b41c2e7ee57bc0c9> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000019 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b01134d39d9b55ea>,
        <https://monarchinitiative.org/.well-known/genid/b7113cf012c7eb0d>,
        <https://monarchinitiative.org/.well-known/genid/ba14e6f731efe649> .

<https://monarchinitiative.org/.well-known/genid/b41f8a859ed9fd12> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000005 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b1912bbe5770b995>,
        <https://monarchinitiative.org/.well-known/genid/b35d146d9222431e>,
        <https://monarchinitiative.org/.well-known/genid/b52034b944ce5190>,
        <https://monarchinitiative.org/.well-known/genid/b67a44c30b0187fa>,
        <https://monarchinitiative.org/.well-known/genid/ba16d1b4734a5ad4> .

<https://monarchinitiative.org/.well-known/genid/b45e84c0db1a09a9> a OBO:SO_0001059 ;
    rdfs:label "hg19chr19(FCGBP):g.40366117C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/8857> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs201558688 .

<https://monarchinitiative.org/.well-known/genid/b465c5d2e0367098> a OBO:SO_0001059 ;
    rdfs:label "hg19chr2(NEB):g.152382680C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/4703> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs200918570 .

<https://monarchinitiative.org/.well-known/genid/b46e00f9ca2ad3f9> a OBO:SO_0001059 ;
    rdfs:label "variant of interest in DNAH2 gene of patient MONARCH:c000026" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/146754> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b48ffb7f07449ae7> a OBO:SO_0001059 ;
    rdfs:label "hg19chr12(CACNA1C):g.2800220A>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/775> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs201090446 .

<https://monarchinitiative.org/.well-known/genid/b4a5e23334fd1a86> a OBO:SO_0001059 ;
    rdfs:label "hg19chr4(SH3TC1):g.8239303C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/54436> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs779640328 .

<https://monarchinitiative.org/.well-known/genid/b4bfb11be81beae5> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(TENM4):g.78383218C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/26011> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b4c1bbaef0787e1d> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(NR0B1):g.30326676C>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/190> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs374077520 .

<https://monarchinitiative.org/.well-known/genid/b4c90320895a9200> a OBO:SO_0001059 ;
    rdfs:label "hg19chr2(CALCRL):g.188211027A>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/10203> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b4e87c160123bb43> a OBO:SO_0001059 ;
    rdfs:label "hg19chr5(SLC12A2):g.ATGTCTGGTGGC>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/6558> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b4f0587d7891129f> a OBO:SO_0001059 ;
    rdfs:label "hg19chr3(KIAA2018):g.113378610G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/205717> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs183889251 .

<https://monarchinitiative.org/.well-known/genid/b50263ab0c0114db> a OBO:SO_0001059 ;
    rdfs:label "hg19chr18:g.11066134G>A" ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs371432372 .

<https://monarchinitiative.org/.well-known/genid/b52034b944ce5190> a OBO:SO_0001059 ;
    rdfs:label "hg19chr13(FRY):g.32747554C>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/10129> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b5301058fc61349d> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000020 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/bf97613972f47a63> .

<https://monarchinitiative.org/.well-known/genid/b53d0afb150308ca> a OBO:SO_0001059 ;
    rdfs:label "hg19chr22(CCT8L2):g.17073232G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/150160> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs140295594 .

<https://monarchinitiative.org/.well-known/genid/b577d331f3228646> a OBO:SO_0001059 ;
    rdfs:label "hg19chr19(FCGBP):g.40384083G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/8857> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs150820208 .

<https://monarchinitiative.org/.well-known/genid/b5a60cecb2167ac8> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(HSPG2):g.22204731C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/3339> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs149479865 .

<https://monarchinitiative.org/.well-known/genid/b5b34b7d60905ee4> a OBO:SO_0001059 ;
    rdfs:label "hg19chr6(MDC1):g.30681077G>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/9656> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs144222920 .

<https://monarchinitiative.org/.well-known/genid/b61dfdba07d729cc> a OBO:SO_0001059 ;
    rdfs:label "hg19chr6(ARID1B):g.157517404delT" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/57492> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b6541e93f35860eb> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(USH2A):g.216363571C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/7399> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs751720987 .

<https://monarchinitiative.org/.well-known/genid/b67a44c30b0187fa> a OBO:SO_0001059 ;
    rdfs:label "hg19chr13(CUL4A):g.113893834C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/8451> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b67d493abec9c9fb> a OBO:SO_0001059 ;
    rdfs:label "hg19chr12(SLC41A2):g.C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/84102> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b6d12c8f482035a4> a OBO:SO_0001059 ;
    rdfs:label "hg19chr7(GNB2):g.100275036A>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/2783> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b6d4a81a37a08131> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(NUP210L):g.154113976C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/91181> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b7071504f8873194> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000010 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/baf1e50687b19074> .

<https://monarchinitiative.org/.well-known/genid/b7113cf012c7eb0d> a OBO:SO_0001059 ;
    rdfs:label "hg19chr11:g.111624270T>C" ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs115165302 .

<https://monarchinitiative.org/.well-known/genid/b76615be58717397> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(USH2A):g.215848910G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/7399> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs111033275 .

<https://monarchinitiative.org/.well-known/genid/b76f055b36fd715f> a OBO:SO_0001059 ;
    rdfs:label "hg19chr14(NID2):g.52473372T>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/22795> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs147018937 .

<https://monarchinitiative.org/.well-known/genid/b7a14490ae554b89> a OBO:SO_0001059 ;
    rdfs:label "variant of interest in SLC26A9 gene of patient MONARCH:c000018" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/115019> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b7bc010554ce329f> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(TBL1X):g.9660256G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/6907> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs201963539 .

<https://monarchinitiative.org/.well-known/genid/b7c4738b34e897ae> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000035 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b4bfb11be81beae5>,
        <https://monarchinitiative.org/.well-known/genid/b9dd4857bd4eff8f> .

<https://monarchinitiative.org/.well-known/genid/b7fcf6bdf5b17c9b> a OBO:SO_0001059 ;
    rdfs:label "hg19chr9(DNAJB5):g.34997123G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/25822> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b851e8800d6d66f4> a OBO:SO_0001059 ;
    rdfs:label "hg19chr19(ZNF235):g.44792272C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/9310> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs201108543 .

<https://monarchinitiative.org/.well-known/genid/b862c358d92580d9> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(SLC9A1):g.27432470G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/6548> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs797044991 .

<https://monarchinitiative.org/.well-known/genid/b8774898120747d2> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000008 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b113fb270d5a09a6>,
        <https://monarchinitiative.org/.well-known/genid/b851e8800d6d66f4>,
        <https://monarchinitiative.org/.well-known/genid/b9f97806a0608589>,
        <https://monarchinitiative.org/.well-known/genid/bbb031f7bc03140f> .

<https://monarchinitiative.org/.well-known/genid/b886295affe0f56e> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(SHROOM2):g.9905262C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/357> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs751386118 .

<https://monarchinitiative.org/.well-known/genid/b896b2c938986271> a OBO:SO_0001059 ;
    rdfs:label "hg19chr6(KLC4):g.43034797C>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/89953> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs143587178 .

<https://monarchinitiative.org/.well-known/genid/b8f1987ed783f795> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000017 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b4e87c160123bb43>,
        <https://monarchinitiative.org/.well-known/genid/bc16cb02f93e2861>,
        <https://monarchinitiative.org/.well-known/genid/bd3591c150810ee0> .

<https://monarchinitiative.org/.well-known/genid/b9040d57b4085bc9> a OBO:SO_0001059 ;
    rdfs:label "hg19chr20(LAMA5):g.60921585A>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/3911> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b917efc46cb5186c> a OBO:SO_0001059 ;
    rdfs:label "hg19chr3(KIAA2018):g.113375764G>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/205717> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs199967580 .

<https://monarchinitiative.org/.well-known/genid/b91c92269b05fe2d> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000002 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b08c005b40393c93>,
        <https://monarchinitiative.org/.well-known/genid/b387fa8b7e53ad3f>,
        <https://monarchinitiative.org/.well-known/genid/b61dfdba07d729cc>,
        <https://monarchinitiative.org/.well-known/genid/b9040d57b4085bc9>,
        <https://monarchinitiative.org/.well-known/genid/bbfb057059bd04fc>,
        <https://monarchinitiative.org/.well-known/genid/bd3998654bc90d31>,
        <https://monarchinitiative.org/.well-known/genid/bffffd979c2b2c17> .

<https://monarchinitiative.org/.well-known/genid/b921ba45d18ffe73> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000029 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/be9da2664e88bfc4> .

<https://monarchinitiative.org/.well-known/genid/b961ab1931f4a36b> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000032 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b04d26af54956954>,
        <https://monarchinitiative.org/.well-known/genid/b062e4a72c4bfa41>,
        <https://monarchinitiative.org/.well-known/genid/b4c1bbaef0787e1d>,
        <https://monarchinitiative.org/.well-known/genid/ba7343d1eab255bb>,
        <https://monarchinitiative.org/.well-known/genid/bc0c403a6cb20176> .

<https://monarchinitiative.org/.well-known/genid/b9675bd85bf91ea5> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(IARS2):g.220315177G>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/55699> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b9a765559ff87890> a OBO:SO_0001059 ;
    rdfs:label "variant of interest in VWA5B2 gene of patient MONARCH:c000026" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/90113> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b9b1e6a23c2cdac4> a OBO:SO_0001059 ;
    rdfs:label "hg19chr20(HSPA12B):g.3730394C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/116835> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b9dd4857bd4eff8f> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(TENM4):g.78381352T>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/26011> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b9f97806a0608589> a OBO:SO_0001059 ;
    rdfs:label "hg19chr3(NBEAL2):g.47042666G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/23218> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/b9fa31d5f481f0e2> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000027 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b4c90320895a9200> .

<https://monarchinitiative.org/.well-known/genid/ba14e6f731efe649> a OBO:SO_0001059 ;
    rdfs:label "hg19chr6(TEAD3):g.35443237C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/7005> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs773822920 .

<https://monarchinitiative.org/.well-known/genid/ba16d1b4734a5ad4> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(LRCH2):g.114400457T>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/57631> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/ba1bde07dc2108a6> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000001 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b2bf3124857470ce>,
        <https://monarchinitiative.org/.well-known/genid/b6d4a81a37a08131>,
        <https://monarchinitiative.org/.well-known/genid/bd3b5398b599121b> .

<https://monarchinitiative.org/.well-known/genid/ba38d01696a9c71a> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000024 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b05c40a971a21a17>,
        <https://monarchinitiative.org/.well-known/genid/b30c9ab9893faae9>,
        <https://monarchinitiative.org/.well-known/genid/bc3608c88817b374> .

<https://monarchinitiative.org/.well-known/genid/ba4e350e4925d422> a OBO:SO_0001059 ;
    rdfs:label "hg19chr7(UPP1):g.48142921A>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/7378> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs771684665 .

<https://monarchinitiative.org/.well-known/genid/ba4f328fb4b95676> a OBO:SO_0001059 ;
    rdfs:label "variant of interest in ADRA1A gene of patient MONARCH:c000015" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/148> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/ba7343d1eab255bb> a OBO:SO_0001059 ;
    rdfs:label "hg19chr19(CAPN12):g.39229227G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/147968> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs374083881 .

<https://monarchinitiative.org/.well-known/genid/ba74a2c477b85868> a OBO:SO_0001059 ;
    rdfs:label "hg19chr9(GBA2):g.35738146C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/57704> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs142621039 .

<https://monarchinitiative.org/.well-known/genid/ba7997e092c251c6> a OBO:SO_0001059 ;
    rdfs:label "hg19chr2(NEB):g.152514505C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/4703> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs369215974 .

<https://monarchinitiative.org/.well-known/genid/ba7d96da7d2b39d9> a OBO:SO_0001059 ;
    rdfs:label "hg19chr10(DLG5):g.79566664C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/9231> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bac445fbf9db8917> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000037 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b3dff2e4c3f5c760>,
        <https://monarchinitiative.org/.well-known/genid/b4f0587d7891129f>,
        <https://monarchinitiative.org/.well-known/genid/b6d12c8f482035a4>,
        <https://monarchinitiative.org/.well-known/genid/b917efc46cb5186c> .

<https://monarchinitiative.org/.well-known/genid/baccb6c4b216414f> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000012 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/bb9c96293be54a78>,
        <https://monarchinitiative.org/.well-known/genid/bc674b61c11cb988> .

<https://monarchinitiative.org/.well-known/genid/bad1ab4e25dbde6d> a OBO:SO_0001059 ;
    rdfs:label "variant of interest in SLC26A9 gene of patient MONARCH:c000018" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/115019> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/badd72fa067dae42> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000009 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b5a60cecb2167ac8>,
        <https://monarchinitiative.org/.well-known/genid/b9675bd85bf91ea5>,
        <https://monarchinitiative.org/.well-known/genid/ba9e128d62e176ae>,
        <https://monarchinitiative.org/.well-known/genid/bb1287e124c81afe> .

<https://monarchinitiative.org/.well-known/genid/bae052c12cae82a7> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(STARD8):g.67940901C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/9754> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs761535257 .

<https://monarchinitiative.org/.well-known/genid/baed37ce0df90fd2> a OBO:SO_0001059 ;
    rdfs:label "hg19chr14(NID2):g.52507491C>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/22795> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs117965887 .

<https://monarchinitiative.org/.well-known/genid/baf0ef3de43463a7> a OBO:SO_0001059 ;
    rdfs:label "hg19chr18:g.10794948G>A" ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/baf1e50687b19074> a OBO:SO_0001059 ;
    rdfs:label "hg19chr7(COL28A1):g.7571257A>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/340267> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs75456776 .

<https://monarchinitiative.org/.well-known/genid/bb1287e124c81afe> a OBO:SO_0001059 ;
    rdfs:label "hg19chr4(NFXL1):g.47887938C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/152518> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bb9c96293be54a78> a OBO:SO_0001059 ;
    rdfs:label "hg19chr20(ZBTB46):g.A>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/140685> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bbb031f7bc03140f> a OBO:SO_0001059 ;
    rdfs:label "hg19chr22:g.50647038G>A" ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs151171493 .

<https://monarchinitiative.org/.well-known/genid/bbbe32cf787e8efd> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000003 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b67d493abec9c9fb>,
        <https://monarchinitiative.org/.well-known/genid/bcf44f84483005f3> .

<https://monarchinitiative.org/.well-known/genid/bbbf66ca1d3226e9> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(FBXO44):g.11718390G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/93611> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs138412784 .

<https://monarchinitiative.org/.well-known/genid/bbfb057059bd04fc> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(NBPF8):g.148252063C>T" ;
    OBO:GENO_0000418 FlyBase:FBog0000460125 ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bc0c403a6cb20176> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(HYPM):g.37850340A>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/25763> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs202191406 .

<https://monarchinitiative.org/.well-known/genid/bc16cb02f93e2861> a OBO:SO_0001059 ;
    rdfs:label "hg19chr21(PCNT):g.47817316G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/5116> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs143796569 .

<https://monarchinitiative.org/.well-known/genid/bc3608c88817b374> a OBO:SO_0001059 ;
    rdfs:label "hg19chr15(GOLGA6L1):g.22743380G>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/283767> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bc589279a8c50939> a OBO:SO_0001059 ;
    rdfs:label "hg19chr9(SMARCA2):g.2032980T>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/6595> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bc633fe9f36b945f> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000015 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b1a5ae1b92e9c10e>,
        <https://monarchinitiative.org/.well-known/genid/b50263ab0c0114db>,
        <https://monarchinitiative.org/.well-known/genid/ba4f328fb4b95676>,
        <https://monarchinitiative.org/.well-known/genid/bae052c12cae82a7>,
        <https://monarchinitiative.org/.well-known/genid/baf0ef3de43463a7>,
        <https://monarchinitiative.org/.well-known/genid/bcd887d00203c9f2>,
        <https://monarchinitiative.org/.well-known/genid/bf8883935af049e6> .

<https://monarchinitiative.org/.well-known/genid/bc674b61c11cb988> a OBO:SO_0001059 ;
    rdfs:label "chr16(TIGD7):g.T>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/91151> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bcb306cac8cd35f9> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000006 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b222ffa23cbeddd1>,
        <https://monarchinitiative.org/.well-known/genid/ba7d96da7d2b39d9>,
        <https://monarchinitiative.org/.well-known/genid/bcf889ec9f0e7150>,
        <https://monarchinitiative.org/.well-known/genid/be3b9ddc2341745c>,
        <https://monarchinitiative.org/.well-known/genid/be4e06b9e554017a> .

<https://monarchinitiative.org/.well-known/genid/bcbc71595947af32> a OBO:SO_0001059 ;
    rdfs:label "hg19chr6(LAMA2):g.129513837A>G" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/3908> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs141363186 .

<https://monarchinitiative.org/.well-known/genid/bcd887d00203c9f2> a OBO:SO_0001059 ;
    rdfs:label "hg19chr18:g.10761048T>C" ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs192225494 .

<https://monarchinitiative.org/.well-known/genid/bcf44f84483005f3> a OBO:SO_0001059 ;
    rdfs:label "chr11(SIK3):g.A>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/23387> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bcf77742773acb91> a OBO:SO_0001059 ;
    rdfs:label "hg19chr4(WHSC1):g.1961360G>A" ;
    OBO:GENO_0000418 FlyBase:FBog0000384493 ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bcf889ec9f0e7150> a OBO:SO_0001059 ;
    rdfs:label "variant of interest in FAT3 gene of patient MONARCH:c000006" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/120114> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bcfebe89ddf0753e> a OBO:SO_0001059 ;
    rdfs:label "hg19chr12(FAM109A):g.111801216G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/144717> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs748983328 .

<https://monarchinitiative.org/.well-known/genid/bd07f616b94894f4> a OBO:SO_0001059 ;
    rdfs:label "hg19chr22(CCT8L2):g.17072411G>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/150160> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs41277596 .

<https://monarchinitiative.org/.well-known/genid/bd3591c150810ee0> a OBO:SO_0001059 ;
    rdfs:label "hg19chr21(PCNT):g.47852019C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/5116> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs766529116 .

<https://monarchinitiative.org/.well-known/genid/bd3998654bc90d31> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(CROCC):g.17265495G>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/9696> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs746244135 .

<https://monarchinitiative.org/.well-known/genid/bd3b5398b599121b> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(NUP210L):g.154018655C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/91181> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs183446732 .

<https://monarchinitiative.org/.well-known/genid/bd4614a49479b6e6> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000038 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b03084fd6bf30bcb>,
        <https://monarchinitiative.org/.well-known/genid/b48ffb7f07449ae7> .

<https://monarchinitiative.org/.well-known/genid/bd62d2247971d3b0> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000033 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b7bc010554ce329f>,
        <https://monarchinitiative.org/.well-known/genid/b886295affe0f56e> .

<https://monarchinitiative.org/.well-known/genid/bd78e3bd4d6760f4> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000016 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b382ea142ecfe11f>,
        <https://monarchinitiative.org/.well-known/genid/b53d0afb150308ca>,
        <https://monarchinitiative.org/.well-known/genid/bd07f616b94894f4> .

<https://monarchinitiative.org/.well-known/genid/bd82eeaca18bad21> a OBO:SO_0001059 ;
    rdfs:label "hg19chr12(FBXO21):g.117595754C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/23014> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs201969932 .

<https://monarchinitiative.org/.well-known/genid/bdc0cc81dcd366bf> a OBO:SO_0001059 ;
    rdfs:label "hg19chr12(PITPNM2):g.123481962C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/57605> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs200180376 .

<https://monarchinitiative.org/.well-known/genid/be3b9ddc2341745c> a OBO:SO_0001059 ;
    rdfs:label "variant of interest in FAT3 gene of patient MONARCH:c000006" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/120114> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/be4e06b9e554017a> a OBO:SO_0001059 ;
    rdfs:label "hg19chr6(CTAGE9):g.132031233C>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/643854> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/be536a9b8129378d> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000023 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b158d346821fbf82>,
        <https://monarchinitiative.org/.well-known/genid/b2ea33d1da1caf11>,
        <https://monarchinitiative.org/.well-known/genid/b45e84c0db1a09a9>,
        <https://monarchinitiative.org/.well-known/genid/b577d331f3228646>,
        <https://monarchinitiative.org/.well-known/genid/bbbf66ca1d3226e9>,
        <https://monarchinitiative.org/.well-known/genid/bcf77742773acb91> .

<https://monarchinitiative.org/.well-known/genid/be93b3641aa15c17> a OBO:SO_0001059 ;
    rdfs:label "hg19chr8(CSGALNACT1):g.19539991C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/55790> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/be9da2664e88bfc4> a OBO:SO_0001059 ;
    rdfs:label "hg19chr7(GRB10):g.50672008C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/2887> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bed8f1847d1ef748> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000026 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b46e00f9ca2ad3f9>,
        <https://monarchinitiative.org/.well-known/genid/b7fcf6bdf5b17c9b>,
        <https://monarchinitiative.org/.well-known/genid/b9a765559ff87890>,
        <https://monarchinitiative.org/.well-known/genid/ba4e350e4925d422>,
        <https://monarchinitiative.org/.well-known/genid/bcfebe89ddf0753e> .

<https://monarchinitiative.org/.well-known/genid/bf8883935af049e6> a OBO:SO_0001059 ;
    rdfs:label "variant of interest in ADRA1A gene of patient MONARCH:c000015" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/148> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bf97613972f47a63> a OBO:SO_0001059 ;
    rdfs:label "hg19chrX(PLXNB3):g.153040229G>C" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/5365> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .

<https://monarchinitiative.org/.well-known/genid/bfeb1f1a6925aa75> a OBO:GENO_0000000 ;
    rdfs:label "MONARCH:c000021 genotype" ;
    OBO:GENO_0000382 <https://monarchinitiative.org/.well-known/genid/b862c358d92580d9>,
        <https://monarchinitiative.org/.well-known/genid/be93b3641aa15c17> .

<https://monarchinitiative.org/.well-known/genid/bffc60e96c72407c> a OBO:SO_0001059 ;
    rdfs:label "hg19chr6(LAMA2):g.129601217C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/3908> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs117422805 .

<https://monarchinitiative.org/.well-known/genid/bffffd979c2b2c17> a OBO:SO_0001059 ;
    rdfs:label "hg19chr7(ELN):g.73482987G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/2006> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs41511151 .

<https://monarchinitiative.org/.well-known/genid/ba9e128d62e176ae> a OBO:SO_0001059 ;
    rdfs:label "hg19chr1(HSPG2):g.22202483G>A" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/3339> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 ;
    owl:sameAs dbSNP:rs62642528 .

<https://monarchinitiative.org/.well-known/genid/be49b6f58bcc81cc> a OBO:SO_0001059 ;
    rdfs:label "hg19chr17(UBTF):g.42290219C>T" ;
    OBO:GENO_0000418 <http://www.ncbi.nlm.nih.gov/gene/7343> ;
    OBO:RO_0002162 OBO:NCBITaxon_9606 .