@prefix EOM: . @prefix HP: . @prefix IAO: . @prefix biolink: . @prefix foaf: . @prefix oboInOwl: . @prefix owl: . @prefix rdfs: . IAO:0000115 a owl:AnnotationProperty . a owl:ObjectProperty . oboInOwl:hasExactSynonym a owl:AnnotationProperty . oboInOwl:hasRelatedSynonym a owl:AnnotationProperty . rdfs:comment a owl:AnnotationProperty . rdfs:label a owl:AnnotationProperty . foaf:page a owl:AnnotationProperty . EOM:000fb29123c16757 a owl:Class ; rdfs:label "Nasal Bridge, Depressed" ; IAO:0000115 " Posterior positioning of the nasal root in relation to the overall facial profile for age." ; oboInOwl:hasExactSynonym "Nasal Bridge, Recessed", "Nasal Bridge, Retruded", "Nasal Root, Depressed", "Nasal Root, Recessed", "Protrusion of the Nasal Bridge, Decreased" ; oboInOwl:hasRelatedSynonym " Nasal Bridge, Flat", " Nasal Bridge, Low", "Snub Nose" ; rdfs:comment "The adjective \"depressed\" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0005280 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:01f3cc71dd4c3b9d a owl:Class ; rdfs:label "Foot, Osseous Syndactyly of" ; IAO:0000115 "Lateral (A/P) fusion of the digits (phalanges and/or metatarsals) by hard tissue (cartilage and/or bone). " ; oboInOwl:hasRelatedSynonym "Syndactyly (without adjective)" ; rdfs:comment "Metatarsal syndactyly can be demonstrated by the inability to independently manipulate the two metatarsals (see Polydactyly, mesoaxial for a description of this maneuver) or the continuity of two metatarsals is demonstrated [Biesecker, [2007]]. The description should include the bones that are fused. Osseous syndactyly is distinct from Symphalangism, where the phalanges are fused at the joint longitudinally (P/D axis). The exact nature of the bony anomaly may not be definable without X-ray evidence. Note that the unqualified term syndactyly is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010717 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:02288646dd433c21 a owl:Class ; rdfs:label "Nuchal Skin, Redundant" ; IAO:0000115 " Excess skin around the neck, often lying in horizontal folds." ; rdfs:comment "With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000474 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:039dd7f4bd054dc6 a owl:Class ; rdfs:label "Commissural Pit" ; IAO:0000115 "Depression located at an oral commissure. " ; rdfs:comment "This pit has no relationship to a Lip pit." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002710 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:03de7eef71b03368 a owl:Class ; rdfs:label "Hand, Preaxial Polydactyly of" ; IAO:0000115 "Duplication of all or part of the first ray. " ; oboInOwl:hasExactSynonym "Anterior Polydactyly" ; oboInOwl:hasRelatedSynonym " Radial Polydactyly", "Anterior Duplication of the Limb/Hand" ; rdfs:comment "There is a wide spectrum of this malformation. The mild end of the spectrum is a bifid (not cleft) nail or a distal phalanx of the thumb with a central lacuna or bifid tip. Broadened thumbs without a recognizable line of anterior/posterior clefting should be coded as Thumb, broad. Note that finger numbering may be affected by the finding of preaxial polydactyly. See the introductory comments for guidance on digit numbering. It is optional to modify the term by adding partial to a duplicated thumb that involves less than the entire ray (metacarpal and both phalanges) and complete for a digit that has complete duplication of all three bones." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100258 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:03f02219fe5521b4 a owl:Class ; rdfs:label "Forehead, Narrow" ; IAO:0000115 "Width of the forehead or distance between the frontotemporales is more than two SD below the mean. Apparently narrow inter-temporal region." ; oboInOwl:hasExactSynonym "Bitemporal Narrowing", "Intertemporal Narrowing" ; rdfs:comment "Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow [Farkas, [1981]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000341 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:042e23a2026636c8 a owl:Class ; rdfs:label "Nose, Bulbous" ; IAO:0000115 " Increased volume and globular shape of the anteroinferior aspect of the nose." ; oboInOwl:hasRelatedSynonym " Nasal Tip, Bulbous", " Pear-shaped Nose", "Potato Nose" ; rdfs:comment "This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000414 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:04895dd7ae88810b a owl:Class ; rdfs:label "Columella, High Insertion" ; IAO:0000115 "Insertion of the posterior columella superior to the nasal base. " ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012807 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:04c423ff6b42ca46 a owl:Class ; rdfs:label "Thumb, Adducted" ; IAO:0000115 " In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." ; rdfs:comment "The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001181 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:054a0d72d8bcc41d a owl:Class ; rdfs:label "Eruption, Advanced" ; IAO:0000115 "Tooth eruption more than 2 SD earlier than the mean eruption age. " ; rdfs:comment "There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al., [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0006288 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:0629880b5850af5c a owl:Class ; rdfs:label "Lagophthalmos" ; IAO:0000115 " Inability to totally close the eyelids while awake, asleep, or both." ; rdfs:comment "It may be an isolated finding or part of a syndrome [Korula et al., [1995]] and can be associated with Ectropion. Lagophthalmos frequently results in chronic conjunctival and/or corneal irritation." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030001 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:06f08cd8cc8dd577 a owl:Class ; rdfs:label "Helix, Crus, Horizontal" ; IAO:0000115 " Main axis of the crus of the helix perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly." ; rdfs:comment "The term \"railroad track sign\" has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009897 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:095679c21044c851 a owl:Class ; rdfs:label "Pretragal Ectopia" ; IAO:0000115 "Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. " ; oboInOwl:hasExactSynonym "Polyotia", "Pretragal Duplication" ; oboInOwl:hasRelatedSynonym "Accessory Tragus" ; rdfs:comment "These structures are frequently complex and should be distinguished from Preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or Tragal duplications. Pretragal ectopias often appear helix-like (Fig. a), and in such cases may be called Polyotia (Fig. c)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030024 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:098da66460e9ca9d a owl:Class ; rdfs:label "Stahl Ear" ; IAO:0000115 "Third crus arising at or above the normal bifurcation of the antihelix. " ; oboInOwl:hasExactSynonym "Antihelix, Third Crus", "Ear, Additional Crus" ; rdfs:comment "The helix is often poorly formed. Four types have been recognized in the surgical literature [Yamada and Fukuda, [1980]], but are not further delineated here." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100015 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:0b2aa98d4fef46c4 a owl:Class ; rdfs:label "Toe, Broad" ; IAO:0000115 " Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension." ; rdfs:comment "Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001837 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:0b874cf7827789ae a owl:Class ; rdfs:label "Forehead Creases, Vertical" ; IAO:0000115 " Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression, or when the face is at rest." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011221 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:0bb54677326f9dbc a owl:Class ; rdfs:label "Nails, Fused" ; IAO:0000115 " A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature." ; rdfs:comment "The use of the word fused is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011312 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:0c0cf943952f9447 a owl:Class ; rdfs:label "Thumb, Proximal Placement of" ; IAO:0000115 "Thumb placement index >0.55. The base of the thumb appears closer to the wrist than is typical." ; rdfs:comment "The technique for the thumb placement index is described in detail [Malina et al., [1973]; Hall et al., [2007]]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009623 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:0ca0ac3d52bda364 a owl:Class ; rdfs:label "Epiblepharon" ; IAO:0000115 " Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva." ; rdfs:comment "This term is based on Lemke and Stasior [1981]. This should be distinguished from Entropion." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011225 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:0e9c095b575e29df a owl:Class ; rdfs:label "Finger, Radial Deviation of" ; IAO:0000115 " Angulation of a digit toward the anterior axis (radial side) of the limb." ; rdfs:comment "The deviation is at the MCPJ. The affected digits should be specified. This finding is distinct from Clinodactyly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009466 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:0f154316243118b9 a owl:Class ; rdfs:label "Nasolabial Fold, Prominent" ; IAO:0000115 " Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure)." ; oboInOwl:hasExactSynonym "Nasolabial Crease, Prominent" ; rdfs:comment "Increasing prominence with age is usual. See Allanson et al. [2009b]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0005272 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:0f587b4c5715c846 a owl:Class ; rdfs:label "Chin, Broad" ; IAO:0000115 " Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." ; rdfs:comment "Micrognathia is a term that represents reduction in size of both length and width of the chin. By contrast, increases in chin size are coded separately as Tall chin and Broad chin." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011822 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:104069f8c5e25a99 a owl:Class ; rdfs:label "Palmar Crease, Bridged" ; IAO:0000115 "A crease that connects the proximal and distal transverse palmar creases. " ; oboInOwl:hasExactSynonym "Transitional Palmar Crease" ; rdfs:comment "The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011310 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1060dfda8a77d225 a owl:Class ; rdfs:label "Face, Narrow" ; IAO:0000115 "Bizygomatic (upper face) and bigonial (lower face) width are more than 2 SD below the mean. An apparent reduction in the width of the upper and lower face." ; rdfs:comment "Objective measurement of upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until maximum width is determined. Objective measurement of the lower face is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible [Farkas, [1981]]. Narrow face is distinct from Long face." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000275 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:108960df1b3f13ae a owl:Class ; rdfs:label "Foot, Preaxial Polydactyly of" ; IAO:0000115 "Duplication of all or part of the first ray. " ; oboInOwl:hasExactSynonym "Anterior Polydactyly" ; oboInOwl:hasRelatedSynonym " Tibial Polydactyly", "Anterior Duplication of the Limb" ; rdfs:comment "There is a wide spectrum of this malformation. The mild end of the spectrum is a bifid (not cleft) nail or a distal phalanx of the hallux with a central lacuna or bifid tip. Broadened halluces without a recognizable anterior/posterior cleft should be coded as Broad hallux. Note that toe number may be affected by the finding of preaxial polydactyly. See the introductory comments for guidance on digit numbering. It is optional to modify the term by adding partial to a duplicated hallux that involves less than the entire ray (metatarsal and both phalanges) and complete for a digit that has complete duplication of all three bones." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100258 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:10b2b6e5a7551847 a owl:Class ; rdfs:label "Open Bite" ; IAO:0000115 "Visible space between the dental arches in occlusion. " ; rdfs:comment "An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010807 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:10c606d126a4db12 a owl:Class ; rdfs:label "Philtrum, Midline Raphe" ; IAO:0000115 "Narrow ridge in the midline of the philtral groove. " ; rdfs:comment "The ridge may be very subtly elevated." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011826 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:117a77a280a4130c a owl:Class ; rdfs:label "Cheekbone Underdevelopment" ; IAO:0000115 " Reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin." ; oboInOwl:hasExactSynonym "Cheekbone, Flat", "Zygomatic Underdevelopment" ; oboInOwl:hasRelatedSynonym "Zygomatic Hypoplasia" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010669 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1236af621234b150 a owl:Class ; rdfs:label "Neck Webbing" ; IAO:0000115 " A paravertically oriented fold of skin on the posterolateral aspect of the neck, usually extending from the mastoid region of the skull to the acromion, and best appreciated in frontal or posterior view." ; oboInOwl:hasExactSynonym "Pterygium Colli" ; rdfs:comment "This feature is often accompanied by a Low posterior hairline, but this should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000465 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:13035e06c3c1d73a a owl:Class ; rdfs:label "Uvula, Narrow" ; IAO:0000115 " Decreased width of the uvula." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010811 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:14084d321e471f2a a owl:Class ; rdfs:label "Philtrum, Narrow" ; IAO:0000115 "Distance between the philtral ridges, measured just above the vermilion border, more than 2 SD below the mean. Apparently decreased distance between the ridges of the philtrum." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011829 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:14ce1a16018783f4 a owl:Class ; rdfs:label "Toes, Overlapping" ; IAO:0000115 "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. " ; rdfs:comment "This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): for example, T3,4. The ordering of the numbers specifies which toe is dorsal, that is, with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001845 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:15e964d58bdd017a a owl:Class ; rdfs:label "Helix, Crimped" ; IAO:0000115 " Linear, circumferential indentation in the convexity of the outer surface of the helix." ; oboInOwl:hasExactSynonym "Indented Helix" ; rdfs:comment "The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011262 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:16203d96c596b06c a owl:Class ; rdfs:label "Hammertoe" ; IAO:0000115 " Hyperextension of the MTPJ with hyperflexion of the PIPJ." ; oboInOwl:hasRelatedSynonym "Dorsiflexed Toe" ; rdfs:comment "This term replaces the phrase dorsiflexed toe as that term is an incomplete description of the abnormality [Young et al., [2005]]. Note that this is not a synonym of mallet toe." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001765 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:16234cebbb88b8c2 a owl:Class ; rdfs:label "Supraorbital Ridges, Prominent" ; IAO:0000115 " Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." ; oboInOwl:hasExactSynonym "Brows, Prominent", "Supraorbital Ridges, Hyperplastic" ; oboInOwl:hasRelatedSynonym " Brows, Prominent", "Supraorbital Ridges, Hyperplastic" ; rdfs:comment "The ridges need not be thickened or heavy to be prominent." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000336 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:164fef3895cda7aa a owl:Class ; rdfs:label "Nail, Small" ; IAO:0000115 "A nail that is diminished in length and width. " ; oboInOwl:hasExactSynonym "Micronychia" ; oboInOwl:hasRelatedSynonym "Hypoplastic Nails" ; rdfs:comment "This is a bundled term but is retained because of its common usage. This term may be used when the width and length are reduced, although it may be preferable to code the patient as having both Short nail and Narrow nail. Standards for newborns were identified [Seaborg and Bodurtha, [1989]] but none were identified for older persons. Therefore, for newborns, this could be objective, but this is rarely measured. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001792 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:16f77f427b952855 a owl:Class ; rdfs:label "Fingertip, Broad" ; IAO:0000115 " Increased width of the distal segment of a finger." ; oboInOwl:hasExactSynonym "Wide Fingertips" ; oboInOwl:hasRelatedSynonym "Spatulate Fingertips" ; rdfs:comment "This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad; instead use Finger, broad." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011300 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:16fd51d9dc39d47a a owl:Class ; rdfs:label "Antihelix, Superior Crus, Underdeveloped" ; IAO:0000115 " Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem (Fig. a,b)." ; oboInOwl:hasRelatedSynonym " Superior Crus of Antihelix, Hypoplastic", "Superior Crus of Antihelix, Hypotrophic" ; rdfs:comment "This finding is highly variable, and the range is illustrated in the figure to the right. There may be an inverse relationship between the relative size of the superior and inferior crura, but these should be assessed separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011246 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:170bfc5a5c12fecb a owl:Class ; rdfs:label "Nose, Long" ; IAO:0000115 "Distance from nasion to subnasale more than two SD above the mean. Apparently increased length from the nasal root to the nasal base." ; oboInOwl:hasExactSynonym "Increased Nasal Height" ; rdfs:comment "Normal values for length are available [Farkas, [1981]; Zankl et al., [2002]; Hall et al., [2007]]. The length of the nose usually shows an apparent inverse relationship with the length of the philtrum. The nasion may be difficult to determine, in which case only the subjective assessment can be made. Sometimes a nose is well within normal limits in length when measured (objectively) but still appears large (subjectively). The infant's nose usually appears shorter in relation to facial length than does that of the adult [Farkas and Munro, [1987]]. The nose continues to grow throughout life, contributing in adulthood to increases in length of the nasal ridge but not necessarily of the nasal length. There are no normal adult standards to determine this. Long nose is distinct from large nose." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0003189 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1866d0c18a469919 a owl:Class ; rdfs:label "Toe, Long" ; IAO:0000115 " Digits that appear disproportionately long compared to the foot." ; oboInOwl:hasRelatedSynonym "Arachnodactyly" ; rdfs:comment "This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. The term arachnodactyly should be discontinued as it may be considered disparaging to liken a patient's digits to that of a spider. If only a subset of the digits of a limb is lengthened, the affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010511 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:193d1645eb4eced8 a owl:Class ; rdfs:label "Quelprud Nodule" ; IAO:0000115 "Small cartilaginous prominence on the posterior concha. " ; rdfs:comment "This is best visualized when the lobe is tilted anteriorly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030023 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1aafa0d1a123aa02 a owl:Class ; rdfs:label "Helix, Crus, Connected to Antihelix" ; IAO:0000115 "Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix. " ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011256 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1af98064c7272d0a a owl:Class ; rdfs:label "Tongue, Bifid" ; IAO:0000115 "Tongue with a median apical indentation or fork. " ; rdfs:comment "Bifid tongue can be associated with Ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010297 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1b6d89bad30b8f18 a owl:Class ; rdfs:label "Tag, Auricular" ; IAO:0000115 "Small protrusion within the pinna. " ; rdfs:comment "The tag can be located on either side of the pinna." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030021 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1bd157b764ec7aea a owl:Class ; rdfs:label "Ptosis" ; IAO:0000115 "The upper eyelid lid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris. The upper lid margin obscures at least part of the pupil." ; oboInOwl:hasExactSynonym "Blepharoptosis" ; rdfs:comment "True ptosis usually occurs in the presence of normal palpebral fissure length. Apparent ptosis is seen in Blepharophimosis and other causes of Short palpebral fissures. Pseudoptosis occurs in the presence of severe zygomatic underdevelopment when the resulting dramatic downward eye slant pulls the upper eyelid diagonally across the globe." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000508 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1c4dc8688933b9ef a owl:Class ; rdfs:label "Palpebral Fissure, Downslanted" ; IAO:0000115 "The palpebral fissure inclination is more than 2 SD below the mean for age. The inclination of the palpebral fissure is less than typical for age." ; oboInOwl:hasRelatedSynonym "Antimongoloid Slant" ; rdfs:comment "The slant, or inclination, of the palpebral fissure is defined as the angle formed by two lines: an imaginary line that connects the lateral canthus and the medial canthus of each eye, and an imaginary horizontal line formed by the two medial canthi when the patient holds their head with the facial midline vertical, the head in a neutral vertical position (neither flexed nor extended) and the gaze forward [Farkas, [1994]]. Palpebral fissure inclination norms are specified in Farkas [1994] for Caucasians (pg. 283) and for Chinese and African-American populations (limited data, pgs 342, and 349, respectively). Hall et al. [2007] only specifies norms for Caucasians between 6 and 16 years of age. Note that the mean inclination is slightly upslanting at all ages [Farkas, [1994]; Hall et al., [2007]]. Some features (e.g., Ptosis or Epicanthus) may hinder palpebral fissure inclination assessment. Malar and/or zygomatic hypoplasia and Widely spaced eyes may be associated with a downward slant." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000494 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1cb59db7a74b5a73 a owl:Class ; rdfs:label "Eyebrow, Thick" ; IAO:0000115 " Increased density/number and/or increased diameter of eyebrow hairs." ; oboInOwl:hasExactSynonym "Bushy Eyebrow", "Hypertrichosis of the Eyebrow" ; rdfs:comment "Thickness can be regional (medial, middle (central), lateral) or total. These modifiers should be incorporated into the term, when appropriate." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000574 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1d53660e657259f0 a owl:Class ; rdfs:label "Macrocephaly" ; IAO:0000115 "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Apparently increased size of the cranium." ; oboInOwl:hasExactSynonym "Head circumference, enlarged", "OFC, enlarged" ; oboInOwl:hasRelatedSynonym "Macrocranium" ; rdfs:comment "Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al., [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000256 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1e8864b52f21e78d a owl:Class ; rdfs:label "Naris, Single" ; IAO:0000115 "One external opening of the nose. " ; rdfs:comment "The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009932 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1f410b8fecf151fa a owl:Class ; rdfs:label "Finger, Short" ; IAO:0000115 " The middle finger is more than 2 SD below the mean for newborns 27-41 weeks EGA or below the 3rd centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each (i.e., it is not the case that the middle finger is the only shortened digit) OR fingers that appear disproportionately short compared to the hand." ; oboInOwl:hasExactSynonym "Brachydactyly of the Hand" ; rdfs:comment "This is an acknowledged bundled term as the definition in most anthropometric sources assumes that the other fingers are all as relatively short as is the middle finger. As the determination of the proportionality of the other four digits is clearly subjective, the term must be regarded as subjective. The Bell classification of brachydactyly (summarized in Temtamy and McKusick [1969]) is a complex assessment of hand patterning - that usage of the word brachydactyly is independent of the use here. When Brachydactyly type x is used, this refers to the Bell classification patterns. When Brachydactyly of the hand is used, it solely refers to reduced length of the specified digits. Short hand should not be used as it is a bundled definition of Short fingers and Short palm. If the distal phalanges are judged to be proportionately shortened, the additional term of Short distal phalanges of the fingers should not be used. If the digit is short overall and the distal phalanx is disproportionately shorter than are the finger overall, then both terms should be used." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009381 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1f45b748bb5aa8fe a owl:Class ; rdfs:label "Neck, Broad" ; IAO:0000115 " Increased width of the neck when viewed from the front or back." ; oboInOwl:hasExactSynonym "Bull-neck", "Neck, Thick", "Neck, Wide" ; oboInOwl:hasRelatedSynonym "Bull-neck" ; rdfs:comment "Neck circumference may provide an objective measure of increase in width. Neck circumference is measured in a horizontal plane at the level of the most prominent portion of the thyroid cartilage, using a tape measure, with the head held erect and eyes facing forward. See Neck webbing for a related finding." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000475 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1fbad6d7c48c6989 a owl:Class ; rdfs:label "Clubbing" ; IAO:0000115 " Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." ; rdfs:comment "This definition does not use specification of nail plate angles for several reasons. First, there is no agreement on which angle should be measured. Second, there are no known data to establish the range of normality. Third, clinicians rarely perform such measurements. Clubbed fingers are often described as resembling the end of drumsticks. The affected digits should be specified as described in the introductory comments. If no subtype identifier is specified, it is assumed that all digits are involved. Although increased soft tissue is the sole or major component of clubbing, some cases may be associated with bone spurs or modest overgrowth of the distal phalanx. As this is not relevant to the clinical (non-radiographic) assessment of clubbing, it is not specified in the definition of this term." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001217 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1fdb03ff8bb336d0 a owl:Class ; rdfs:label "Philtrum, Broad" ; IAO:0000115 "Distance between the philtral ridges, measured just above the vermilion border, more than 2 SD above the mean. Apparently increased distance between the ridges of the philtrum." ; oboInOwl:hasExactSynonym "Philtrum, Wide" ; rdfs:comment "The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000289 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1fdc702bb7e103ee a owl:Class ; rdfs:label "Face, Small" ; IAO:0000115 " " ; rdfs:comment "This term is to be deleted as it represents a combination of two terms: Narrow face and Short face. Both are defined elsewhere." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000274 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:1fe5d46deac24493 a owl:Class ; rdfs:label "Pit, Auricular" ; IAO:0000115 "Small indentation in the lower part of the ascending helix, concha, or in the crus helix. " ; rdfs:comment "The location of the pits is the plane of fusion of the first branchial cleft [Wood-Jones and I-Chuan, [1933]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030025 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2028381d5c61842a a owl:Class ; rdfs:label "Ear, Long" ; IAO:0000115 "Median longitudinal ear length greater than two SD above the mean. Apparently increased length of the ear." ; rdfs:comment "Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. Normal values are available from birth to 16 years of age [Feingold and Bossert, [1974]; Hall et al., [2007]] and birth to 18 years of age [Farkas, [1981]] specific for sex. Adult values for length and width, separated by sex, are published from a sample of US Army personnel (Tech Report NATICK/TR-89/027, pp 89-90) but these are difficult to obtain. Adult Japanese data are also available [Itoh et al., [2001]]. Both adult sets suggest ears increase in length into adulthood and ears in males are larger than those in females. Ears probably more often look large in relation to a small head than actually are large. For this reason we strongly support measurements in assessing ear length. Subjective assessments of ear length should only be used if unavoidable. We encourage recording ear width as well [Farkas, [1981]]. In fact, the commonly used term Macrotia is a bundled term comprising increased length and width (surface area)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0400004 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2233f00dc6033ef8 a owl:Class ; rdfs:label "Antitragus, Absent" ; IAO:0000115 "Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix (Figs. 1 and 2a,b [line 0]). " ; rdfs:comment "The size of the antitragus is highly variable, and the range is illustrated in Figure 2b [modified from Lange, [1966]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011249 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:224e1bf4e42c7ea7 a owl:Class ; rdfs:label "Upper Eyelid, Fullness of" ; IAO:0000115 " Swelling or distention of the upper eyelid." ; rdfs:comment "The swelling can be due to edema, fat or other depositions or inflammation. It is controversial whether there should be a separate term for fullness of the lateral upper eyelid." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012724 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:23975ade73fb0a81 a owl:Class ; rdfs:label "Toes, Splayed" ; IAO:0000115 " Divergence of digits along the A/P axis (in the plane of the sole)." ; oboInOwl:hasExactSynonym "Spreading of the Digits" ; rdfs:comment "This may be associated with Macrodactyly but this should be recorded separately. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011307 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:23ab9760c69007ae a owl:Class ; rdfs:label "Adactyly" ; IAO:0000115 "The absence of all phalanges of all digits of a limb and the associated soft tissues. " ; oboInOwl:hasRelatedSynonym "Aphalangy" ; rdfs:comment "This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009776 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:261ee1433d167588 a owl:Class ; rdfs:label "Helix, Cleft" ; IAO:0000115 "Defect in the continuity of the helix, which may occur at any point along its length. " ; oboInOwl:hasExactSynonym "Helix, Notched" ; rdfs:comment "This may take the form of a sharp cleft as in Figure 4a, or a less well-demarcated area as in the outer upper portion of Figure 4b. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009902 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:265070c5a30104ac a owl:Class ; rdfs:label "Cheeks, Full" ; IAO:0000115 " Increased prominence or roundness of the soft tissues between the zygomata and mandible." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000293 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:276be153ab66593d a owl:Class ; rdfs:label "Philtrum, Tented" ; IAO:0000115 " Prominence of a triangular soft tissue area of the philtrum with the apex to the columella." ; rdfs:comment "A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011825 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2cff5ac9b681fc73 a owl:Class ; rdfs:label "Ear, Short" ; IAO:0000115 "Median longitudinal ear length greater than 2 SD below the mean. Apparently decreased length of the ear." ; rdfs:comment "Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. Normal values are available from birth to 16 years of age [Feingold and Bossert, [1974]; Hall et al., [2007]] and birth to 18 years of age [Farkas, [1981]] specific for sex. Adult values for length and width, separated by sex, are published from a sample of US Army personnel (Tech Report NATICK/TR-89/027, pp 89-90) but these are difficult to obtain. Adult Japanese data are also available [Itoh et al., [2001]]. Both adult sets suggest ears increase in length into adulthood and ears in males are larger than those in females. Subjective assessment of the length of the ear is markedly influenced by the other craniofacial dimensions and easily distorted. For this reason we strongly support measurements in assessing ear length. Subjective assessments of shortness of the ear should only be used if unavoidable. The commonly used term Microtia is a bundled term comprising decreased length and width (surface area)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0400005 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2d1d0cff9193cd89 a owl:Class ; rdfs:label "Polydactyly, Mesoaxial" ; IAO:0000115 "The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. " ; oboInOwl:hasExactSynonym "Central Polydactyly", "Intercalary Polydactyly" ; oboInOwl:hasRelatedSynonym "Insertional Polydactyly" ; rdfs:comment "To determine this finding in the hand without using a radiograph [see Allanson et al., [2009b] this issue, for a discussion of the use of radiographs], the examiner grasps two adjacent metacarpals, each with a thumb and index finger on the dorsum and palmar aspect of the hand and attempts to independently maneuver the metacarpals. If they cannot be independently manipulated, osseous syndactyly is present [Biesecker, [2007]]. Consensus could not be reached on the utility of the bundled term of Mesoaxial polydactyly, so it is specified in the terminology for the time being. It is arguably superior to describe the two separate terms (e.g., Osseous syndactyly of F3,4 (metacarpal) and Postaxial polydactyly of the hand, type A). The term insertional polydactyly may be less desirable because the word insertion implies mechanism, which is unlikely to be an insertion. The utility of this term should be reviewed over time." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100260 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2d1e9bde1c9154c4 a owl:Class ; rdfs:label "Nose, Prominent" ; IAO:0000115 "Distance between subnasale and pronasale more than two standard deviations above the mean. Apparently increased anterior protrusion of the nasal tip." ; oboInOwl:hasRelatedSynonym "Nose, Large" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000448 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2dfb8b544358ccda a owl:Class ; rdfs:label "Ear, Protruding" ; IAO:0000115 "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age OR Outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance. " ; oboInOwl:hasExactSynonym "Ear, Prominent" ; oboInOwl:hasRelatedSynonym "Ear, Bat" ; rdfs:comment "Normal values are available [Farkas, [1981]; Hall et al., [2007]]. In mild cases the superior crus of the antihelix is deficient; in more severe cases the lack of normal folding may be more extensive, but these should be recorded separately. Ears that are protruding may give the appearance of increased size, but this should be assessed separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000411 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2e2cb2323a2de213 a owl:Class ; rdfs:label "Lobe, Forward Facing" ; IAO:0000115 " Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear." ; rdfs:comment "The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent (as shown in the Figure from Ear, Protruding). The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011263 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2ef090892b56eb46 a owl:Class ; rdfs:label "Face, Short" ; IAO:0000115 "Facial height (length) is more than 2 SD below the mean. An apparent decrease in the height (length) of the face." ; rdfs:comment "Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline [Farkas, [1981]]. Short face is distinct from Wide face." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011219 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2f191de8ba67fa81 a owl:Class ; rdfs:label "Nail, Short" ; IAO:0000115 "Decreased length of nail. " ; oboInOwl:hasExactSynonym "Brachyonychia" ; rdfs:comment "Use this designation when the length is reduced but the width is normal. Standards for newborns were identified [Seaborg and Bodurtha, [1989]] but none were identified for older persons. Therefore, for newborns, this could be objective, but this is rarely measured. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001799 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2fd642c0ef7883ca a owl:Class ; rdfs:label "Chin, Short" ; IAO:0000115 " Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." ; rdfs:comment "Micrognathia is used when the chin is both short (vertical dimension) and narrow (horizontal dimension)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000331 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:2fe53536ce685edc a owl:Class ; rdfs:label "Glabella, Prominent" ; IAO:0000115 " Forward protrusion of the glabella." ; rdfs:comment "The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002057 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:30b9e9da9758d9d7 a owl:Class ; rdfs:label "Palate, Submucous Cleft" ; IAO:0000115 "Soft palatal defect with intact overlying mucosa comprising two of the following three findings: (1) notching of the posterior border of the hard palate, (2) bifid uvula, or (3) muscular diastasis leading to a midline translucent zone or furrow in the soft palate. " ; rdfs:comment "The notch of the posterior hard palate can sometimes be palpated [Aase, [1990]]. Submucous cleft palate is a bundled term but because of its common usage is included here." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000176 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:30f338017d5cec83 a owl:Class ; rdfs:label "Sandal Gap" ; IAO:0000115 " A widely spaced gap between the first toe (the great toe) and the second toe." ; rdfs:comment "The term is a subjective one but should be used when the gap between the toes is as wide as the second toe is broad." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001852 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:313378096d4d220e a owl:Class ; rdfs:label "Toe, Short Distal Phalanx of" ; IAO:0000115 " Short distance from the end of the toe to the most distal interphalangeal crease or DIPJ flexion point." ; oboInOwl:hasExactSynonym "Brachytelephalangy" ; oboInOwl:hasRelatedSynonym "Short Terminal Phalanx of the Hallux" ; rdfs:comment "This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Although flexion creases can be useful in the hand (see Short distal phalanx of the finger), this may not be practical in the foot. Alternatively, one may be able to palpate the joint." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001857 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:31658d038d722e1f a owl:Class ; rdfs:label "Finger, Short Distal Phalanx of" ; IAO:0000115 " Short distance from the end of the finger to the most distal interphalangeal crease or DIPJ flexion point." ; oboInOwl:hasExactSynonym "Brachytelephalangy" ; oboInOwl:hasRelatedSynonym " Short Terminal Finger", "Short Terminal Phalanges" ; rdfs:comment "This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing the digit segment to the rest of the digit, to other normal digits in the patient, or to typical patients of the same age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIPJ and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009882 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:31c9fd107dbb3883 a owl:Class ; rdfs:label "Helix, Discontinuous Ascending Root" ; IAO:0000115 "Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid area. " ; oboInOwl:hasExactSynonym "Anomalous Oigin of Ascending Most of the Helix" ; oboInOwl:hasRelatedSynonym "Helix, Ascending, Detachment" ; rdfs:comment "This is an uncommon feature." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011264 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:325a0c57c4817952 a owl:Class ; rdfs:label "Plagiocephaly" ; IAO:0000115 " Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." ; rdfs:comment "Plagiocephaly may affect the posterior skull alone." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001357 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:339585ad3ac88686 a owl:Class ; rdfs:label "Cryptophthalmos" ; IAO:0000115 " Absent palpebral fissures, with skin passing continuously from the forehead or eyebrow onto the cheek." ; rdfs:comment "This term is based on Saal et al. [1992]. This is an acknowledged bundled term, though the separate coding of the components (palpebral fissure absence; presence of eyelashes) was deemed impractical. This is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001126 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3435b3d89a17d1dc a owl:Class ; rdfs:label "Nasolabial Fold, Prominent" ; IAO:0000115 " Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure)." ; oboInOwl:hasExactSynonym "Nasolabial Crease, Prominent" ; rdfs:comment "Increasing prominence with age is usual." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0005272 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:34a546ebf02511b5 a owl:Class ; rdfs:label "Entropion" ; IAO:0000115 " An inward turning (inversion) of the eyelid margin." ; rdfs:comment "The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes [Cheng and Biglan, [2002]]. This should be distinguished from Epiblepharon." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000621 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:34e1c568648c7eea a owl:Class ; rdfs:label "Vermilion, Upper Lip, U-Shaped" ; IAO:0000115 " Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." ; oboInOwl:hasRelatedSynonym " Fish Mouth (pejorative terms)", " U-shaped Mouth", "Carp Mouth" ; rdfs:comment "The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010806 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:34e32e08f218cf0c a owl:Class ; rdfs:label "Finger, Slender" ; IAO:0000115 " Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." ; oboInOwl:hasExactSynonym "Narrow Digits", "Narrow Fingers" ; oboInOwl:hasRelatedSynonym " Arachnodactyly", "Thin Digits" ; rdfs:comment "The affected digits should be specified as described. The assessment of this finding is difficult when the digits are long. The bundled and pejorative term arachnodactyly is replaced by the separate descriptors Long finger and Slender finger." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001238 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:34e3f3a4da87632c a owl:Class ; rdfs:label "Tragus, Absent" ; IAO:0000115 "Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. " ; rdfs:comment "See Lange [1966]. This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011268 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:36070ca17ec736f2 a owl:Class ; rdfs:label "Ala Nasi, Thick" ; IAO:0000115 " Increase in bulk of the ala nasi." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009928 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:371fa772c36e1ca9 a owl:Class ; rdfs:label "Hairline, Low Anterior" ; IAO:0000115 "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Apparently decreased distance between the hairline and the glabella." ; oboInOwl:hasExactSynonym "Forehead, Low", "Forehead, Short" ; rdfs:comment "This measurement is carried out with sliding calipers [Farkas, [1981]]. This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000294 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:384c1789373a700e a owl:Class ; rdfs:label "Microdontia" ; IAO:0000115 "Mesiodistal tooth diameter (width) more than 2 SD below mean. apparently decreased maximum width of tooth." ; rdfs:comment "Standard reference has means and standard deviations by gender [Moyers et al., [1976]]. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating Diastemata. This should be assessed and coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000691 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:39ebb90649f3c38a a owl:Class ; rdfs:label "Naris, Enlarged" ; IAO:0000115 " Increased aperture of the nostril." ; oboInOwl:hasExactSynonym "Naris, Broad" ; rdfs:comment "The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009931 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:39ff7c97ca920a5d a owl:Class ; rdfs:label "Face, Coarse" ; IAO:0000115 " Absence of fine and sharp appearance of brows, nose, lips, mouth and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." ; oboInOwl:hasExactSynonym "Features, Coarse", "Lineaments, Coarse" ; rdfs:comment "Note that this is a bundled term, which conveys an impression or gestalt. It is nonetheless a useful term. Note that the word coarse may be considered pejorative by some." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000280 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3a4681f1a14ed29f a owl:Class ; rdfs:label "Nail, Bifid" ; IAO:0000115 " A digit with two nails, with at least some soft tissue between them." ; rdfs:comment "See the Preaxial polydactyly definition for a related point on bifid nails. The affected digits should be specified. If the patient has a partially duplicated digit with two completely separate nails, this term should not be used." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010793 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3a856a6cf478f138 a owl:Class ; rdfs:label "Uvula, Short" ; IAO:0000115 "Decreased length of the uvula. " ; oboInOwl:hasRelatedSynonym "Hypoplastic Uvula" ; rdfs:comment "Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010812 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3ab1137ae31584e5 a owl:Class ; rdfs:label "Antitragus, Bifid" ; IAO:0000115 "Double rather than single peak of the antitragus. " ; oboInOwl:hasExactSynonym "Antitragus, Double" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011250 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3abca500a8f1872a a owl:Class ; rdfs:label "Philtrum, Smooth" ; IAO:0000115 " Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border (Fig. 1)." ; oboInOwl:hasExactSynonym "Philtrum, Flat" ; oboInOwl:hasRelatedSynonym " Philtrum, Simple", "Philtrum, Indistinct" ; rdfs:comment "There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available [Queisser-Luft et al., [2001]]. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome [Astley and Clarren, [1995]] (Fig. 2), has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000319 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3affc93ca0f45968 a owl:Class ; rdfs:label "Satyr Ear" ; IAO:0000115 " Sharp pointed superior portion of the ear, with variable overfolding of the helix." ; oboInOwl:hasRelatedSynonym "Ear, Devil" ; rdfs:comment "The satyr ear appears to have an abnormally small upper-lateral portion. More extensive underdevelopment continuing down to and including the lobe produces a more extreme anomaly that, unfortunately, has been called Devil ear." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100015 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3b2e4adbadf6bff4 a owl:Class ; rdfs:label "Foot, Rocker Bottom" ; IAO:0000115 " The presence of both a \"prominent heel\" and a \"convex contour of the sole\"." ; rdfs:comment "The term is a bundled definition but is in common usage. For that reason, it was included by consensus of the group." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001838 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3ba03107669230ee a owl:Class ; rdfs:label "Hyperpigmentation, Intra-Oral" ; IAO:0000115 " Increased pigmentation, either focal or generalized, of the oral mucosa." ; rdfs:comment "Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010284 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3bb74018b943c188 a owl:Class ; rdfs:label "Finger, Absent" ; IAO:0000115 "The absence of all phalanges of a digit of the hand and the associated soft tissues. " ; oboInOwl:hasExactSynonym "Oligodactyly" ; oboInOwl:hasRelatedSynonym "Hypodactyly" ; rdfs:comment "This term does not require absence of the metacarpal. The affected digits should be specified. This definition excludes Partial absence of the finger. Note that it can be challenging to number the missing digit if it is a central digit that is missing. In these cases, it is appropriate to modify the term by adding the phrase \"non-thumb.\" In contrast, it will be obvious that the thumb is present or absent. It may also be difficult to distinguish an absent finger from two digits with an extreme degree of osseous and cutaneous syndactyly. If a patient is missing all digits of a limb, the term Adactyly should be used. The term oligodactyly may be used as a synonym, but only in situations where the missing digit is not specified. For example, to state that a patient has Oligodactyly F5 is awkward because the oligodactyly refers to the digits that are present and the F5 refers to the digit that is absent, which could become confusing with higher order deficiencies. If a digit that cannot be identified is missing, the term can be modified with a cardinal number, for example, \"Absent fingers, two.\"" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009380 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3c771454d4293f5e a owl:Class ; rdfs:label "Philtrum, Deep" ; IAO:0000115 " Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." ; oboInOwl:hasExactSynonym "Philtrum, Prominent" ; oboInOwl:hasRelatedSynonym "Philtrum, Depressed" ; rdfs:comment "Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove [Pashayan, [1983]]. We are unaware of a truly deepened philtral groove with normal height of the ridges." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002002 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3e938e74b88cda32 a owl:Class ; rdfs:label "Plantar Crease, Deep Longitudinal" ; IAO:0000115 " Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot." ; rdfs:comment "As described for a number of other terms, there are no thresholds or guides for the clinician to assess this finding. Instead, the clinician must rely on experience." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0004681 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:3ef4841293f9eb20 a owl:Class ; rdfs:label "Helix, Crus, Tragal Bridge" ; IAO:0000115 " The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix." ; rdfs:comment "The antihelix can also be anomalous, but this should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011258 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:4032466fb3837d61 a owl:Class ; rdfs:label "Tragus, Prominent" ; IAO:0000115 " Increase posterolateral protrusion of the tragus (Figs. 2 [line 3] from Tragus, Absent and d from the Figure to the right)." ; oboInOwl:hasExactSynonym "Enlarged Tragus" ; oboInOwl:hasRelatedSynonym " Hypertrophic Tragus", "Hyperplastic Tragus" ; rdfs:comment "This finding is highly variable, and the range is illustrated in Figure 2 from Tragus, Absent and the Figure to the right." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011271 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:40563f1f62db2319 a owl:Class ; rdfs:label "Concha, Extra Fold" ; IAO:0000115 "Folds or ridges within the concha that are distinct from the crus helix. " ; rdfs:comment "These folds may occur in the absence of a well developed crus helix and can be distinguished by their separate origin and position." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0400002 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:40d80f6dcc04b2c1 a owl:Class ; rdfs:label "Scalp Hair, Sparse" ; IAO:0000115 " Decreased number of hairs per unit area." ; oboInOwl:hasExactSynonym "Scalp Hair, Thin", "Scalp Hair, Thinning" ; oboInOwl:hasRelatedSynonym " Scalp Hair, Thinning", "Scalp Hair, Thin" ; rdfs:comment "Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002209 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:41535e8ed3dc9076 a owl:Class ; rdfs:label "Fingers, Long" ; IAO:0000115 " The middle finger is more than 2 SD above the mean for newborns 27-41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit) (Fig. 10)." ; oboInOwl:hasRelatedSynonym "Arachnodactyly Finger, narrow: See Finger, slender" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100807 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:44f864fd10dfe496 a owl:Class ; rdfs:label "Nasal Tip, Overhanging" ; IAO:0000115 " Positioning of the nasal tip inferior to the nasal base." ; rdfs:comment "This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011833 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:451aad78795592cd a owl:Class ; rdfs:label "Hand, Small" ; IAO:0000115 "A normally proportioned hand (i.e., the various elements of the hand are in proportion to each other) that is overall small for age or overall body size. " ; oboInOwl:hasRelatedSynonym "Acromicria" ; rdfs:comment "This is acknowledged to be a bundled term, but it is sufficiently common that it was felt to be too cumbersome to describe the component findings. It is arguably superior to code a patient as having objectively determined Short fingers, Short palms, and Narrow palms instead of this bundled term. Note that there are no objective standards that can be used for this assessment, only for middle finger and palm length and palm width. The term acromicria is discouraged because in some definitions, this term also includes small head or facial features; in others it only includes the fingers and toes." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0200055 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:46679495af445c55 a owl:Class ; rdfs:label "Foot, Split" ; IAO:0000115 " Longitudinal deficiency of a digital ray of the foot except rays 1 or 5." ; oboInOwl:hasExactSynonym "Cleft Foot" ; oboInOwl:hasRelatedSynonym " Lobster Claw Deformity", "Ectrodactyly" ; rdfs:comment "The threshold for this deficiency should be that all of the phalanges in the ray are absent and at least part of the metatarsal. If just the phalanges that are missing, this should be coded as Absent toe. The absence of a central ray or rays frequently yields a cleft appearance of the foot. This term is preferred to \"ectrodactyly of the foot\" as this has been used (more appropriately) for various forms of phalangeal hypoplasia or amputation. \"Lobster claw deformity\" is neither descriptive nor acceptable. There is wide variation in the affected feet, but the common factor is the absent central ray, justifying Split foot as a clinical designation." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001839 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:46937dc619ed9c29 a owl:Class ; rdfs:label "Trigonocephaly" ; IAO:0000115 " Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." ; rdfs:comment "This shape should be assessed from above, with the examiner looking down on the head of the patient." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000243 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:46d19037adf1a435 a owl:Class ; rdfs:label "Nose, Wide" ; IAO:0000115 "Interalar distance more than 2 SD above the mean for age. Apparently increased width of the nasal base and alae." ; oboInOwl:hasExactSynonym "Nose, Broad" ; rdfs:comment "The nasal width is defined as the distance between the most lateral aspects of alae nasi. A broad nasal width is often, but not necessarily, accompanied by a Wide nasal base. It may also be accompanied by increased thickness of the alae, enlarged nares, or a broad columella. The term wide nose is used by many to denote increases in not only the interalar distance but also the nasal tip, ridge and bridge. As such it is a bundled term. We do not favor this more general use of the term and instead recommend describing the individual components." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000445 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:479ccad9356835fd a owl:Class ; rdfs:label "Lacrimal Punctum, Absence" ; IAO:0000115 "No identifiable superior and/or inferior lacrimal punctum. " ; oboInOwl:hasRelatedSynonym "Agenesis of the Lacrimal Punctum" ; rdfs:comment "The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Absence of the lacrimal punctum is uncommon [Ferreira et al., [2000]] and although it is typically presumed to be caused by agenesis, we avoid causal mechanisms in this terminology. There was some disagreement as to whether Nasolacrimal duct obstruction should be included in this terminology. As that assessment is primarily functional and not anatomic, it was removed." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001092 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:47d71c3912db226b a owl:Class ; rdfs:label "Malar Prominence" ; IAO:0000115 " Prominence of the malar (frontal) process of the maxilla and infraorbital area, appreciated in profile and from in front of the face." ; oboInOwl:hasRelatedSynonym " Malar Hyperplasia", "Malar Hypertrophy" ; rdfs:comment "The malar process is the most medial and superior portion of the maxilla, contiguous with the lateral boundary of the nasal bridge." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010620 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:483af428f909c76c a owl:Class ; rdfs:label "Clinodactyly" ; IAO:0000115 " A digit that is laterally curved in the plane of the palm." ; oboInOwl:hasRelatedSynonym "Incurved Finger" ; rdfs:comment "The curvature in this term is restricted to the phalanges and does not refer to deviation at the MCPJ/MTPJ (see Radial deviation of the fingers). Typically involves an abnormally shaped middle phalanx, but this is not obligate. The identity of the finger/toe should be specified and the directionality of the deviation. This finding is most common in F5, and is almost always radial, but can be seen in any digit and can be in either direction. A similar effect can be created by radial angulation within the distal phalanx with epiphyseal thickening, which is called Kirner deformity or dystelephalangy [Ozonoff, [1992]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030084 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:4856efaad5238738 a owl:Class ; rdfs:label "Ala Nasi, Cleft" ; IAO:0000115 " Notch in the margin of the ala nasi." ; oboInOwl:hasExactSynonym "Ala Nasi, Notched" ; oboInOwl:hasRelatedSynonym "Ala Nasi, Coloboma" ; rdfs:comment "The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0003191 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:49acd433e354541b a owl:Class ; rdfs:label "Columella, Low Hanging" ; IAO:0000115 " Columella extending inferior to the level of the nasal base, when viewed from the side." ; oboInOwl:hasExactSynonym "Columella Below Alae Nasi", "Columella, Low" ; oboInOwl:hasRelatedSynonym "Columella, Rounded" ; rdfs:comment "This feature may occur with or without low insertion of the columella. It may be confused with an Overhanging nasal tip which may co-occur but the two should be assessed and coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009765 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:49cad0d3ae6a54ac a owl:Class ; rdfs:label "Ectropion" ; IAO:0000115 " An outward turning (eversion) or rotation of the eyelid margin." ; rdfs:comment "This term is derived from Cheng and Biglan [2002]. This finding is frequently associated with overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. Modifiers such as lower and lateral may be applied as appropriate." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000656 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:4a8c3cd977c27473 a owl:Class ; rdfs:label "Nasal Base, Wide" ; IAO:0000115 " Increased distance between the attachments of the alae nasi to the face." ; oboInOwl:hasExactSynonym "Nasal Base, Broad" ; rdfs:comment "There is a marked difference in width of the nasal base depending on ethnic background." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012810 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:4d06c726e63758c5 a owl:Class ; rdfs:label "Toe, Small" ; IAO:0000115 " Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual." ; rdfs:comment "This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030031 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:4d205b64e64acbe7 a owl:Class ; rdfs:label "Lobe, Anterior Crease(s)" ; IAO:0000115 " Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe." ; rdfs:comment "Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally [Chitayat et al., [1990]]. Posterior helical pits can be a related finding but should be assessed and coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009908 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:4e6212887b3f3f6a a owl:Class ; rdfs:label "Jaw, Narrow" ; IAO:0000115 "Bigonial distance (lower facial width) more than 2 SD below the mean. Apparently decreased width of the lower jaw (mandible) when viewed from the front." ; oboInOwl:hasExactSynonym "Lower Face, Narrow", "Mandible, Narrow" ; rdfs:comment "This dimension is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards [Farkas, [1981]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012801 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:4ea4f481ee0dc98c a owl:Class ; rdfs:label "Antihelical Shelf" ; IAO:0000115 " Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha." ; oboInOwl:hasExactSynonym "Conchal Shelf" ; rdfs:comment "In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011233 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:506b9fe34efcb05f a owl:Class ; rdfs:label "Nasal Ridge, Narrow" ; IAO:0000115 "Decreased width of the nasal ridge. " ; oboInOwl:hasRelatedSynonym "Nose, Pinched" ; rdfs:comment "A narrow nasal ridge may appear sharp, but this is not obligate. There is no objective measure of width." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000418 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:510a51e4083c1d6f a owl:Class ; rdfs:label "Forehead, Prominent" ; IAO:0000115 " Forward prominence of the entire forehead, due to protrusion of the frontal bone." ; oboInOwl:hasRelatedSynonym "Forehead, Bulging" ; rdfs:comment "This is not the same as Frontal bossing." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011220 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5112bd7cd0e7bd8e a owl:Class ; rdfs:label "Palpebral Fissure, Almond-Shaped" ; IAO:0000115 " A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond; thus, the maximum distance between the fissures is offset from, and medial to, the center point." ; rdfs:comment "The almond configuration tends to dissipate with time as the surrounding tissues (e.g., eyelid, nasal bridge) grow." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0007874 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:51755789482fe3a8 a owl:Class ; rdfs:label "Palate, High" ; IAO:0000115 "Height of the palate more than 2 SD above the mean. Palatal height at the level of the first permanent molar more than twice the height of the teeth." ; oboInOwl:hasExactSynonym "High, Arched Palate" ; rdfs:comment "The measuring device for this assessment is described in Hall et al. [2006]. A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000218 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:52e2541df69bfda8 a owl:Class ; rdfs:label "Finger, Partial Absence of" ; IAO:0000115 "The absence of a phalangeal segment of a finger. " ; oboInOwl:hasRelatedSynonym "Hypophalangy" ; rdfs:comment "The part that is absent may be specified. The distal modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The proximal modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without X-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011299 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5418a886448cff2d a owl:Class ; rdfs:label "Nail, Thin" ; IAO:0000115 "Nail that appears thin when viewed on end. " ; rdfs:comment "No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001816 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:54f2dee42a1f9ef7 a owl:Class ; rdfs:label "Lip Pit" ; IAO:0000115 "Depression located on the vermilion of the lower lip, usually paramedian. " ; oboInOwl:hasExactSynonym "Lip Fistula" ; rdfs:comment "A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commissure (cheilion) are distinct from lip pits; see Commissural pit." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100267 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:55d70204f2c9fd1c a owl:Class ; rdfs:label "Nasal Tip, Bifid" ; IAO:0000115 " Visually assessable vertical indentation, cleft, or depression of the nasal tip." ; oboInOwl:hasRelatedSynonym "Nasal Cartilages, Separated" ; rdfs:comment "Note that this definition does not require that the tip is wide. The division should be visible at inspection and not just palpable, as a palpable bifid tip is usual. If a bifid nasal tip goes along with an indentation or cleft of the nasal ridge and the nasal bridge, this should be coded as Bifid nose." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000456 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:55fb0667392bab43 a owl:Class ; rdfs:label "Telecanthus" ; IAO:0000115 "Distance between the inner canthi more than 2 SD above the mean. Apparently increased distance between the inner canthi." ; oboInOwl:hasExactSynonym "Dystopia Canthorum" ; rdfs:comment "Telecanthus may be present without (Fig. A) or with (Fig. B) Widely spaced eyes. In the latter case, Widely spaced eyes should be coded separately. Inner canthal distance varies among ethnic groups. Norms are available for American Africans [Murphy and Laskin, [1990]], Chinese [Wu et al., [2000]], and Caucasians [Laestadius et al., [1969]; Feingold and Bossert, [1974]; Merlob et al., [1984]; Evereklioglu et al., [2001]]. In the presence of an Epicanthal fold, ascertainment of inner canthal distance can be difficult." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000506 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:56588a7613afe63e a owl:Class ; rdfs:label "Lobe, Uplifted" ; IAO:0000115 " Lateral surface of ear lobe faces superiorly." ; oboInOwl:hasExactSynonym "Lobe, Upturned" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009909 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:572ee266fb56c22a a owl:Class ; rdfs:label "Eye, Deeply Set" ; IAO:0000115 "An eye that is more deeply recessed into the plane of the face than is typical. " ; oboInOwl:hasExactSynonym "Sunken Eyes" ; rdfs:comment "This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000490 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:57fbd034f7a61e60 a owl:Class ; rdfs:label "Oral Frenulum, Accessory" ; IAO:0000115 "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. " ; oboInOwl:hasExactSynonym "Extra Oral Frenulum", "Supernumerary Oral Frenulum" ; rdfs:comment "This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000191 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:588f04d3f1b40b25 a owl:Class ; rdfs:label "Retrognathia" ; IAO:0000115 " Posteriorly positioned lower jaw, which is set back from the plane of the face when viewed from the side but not from the front." ; oboInOwl:hasExactSynonym "Chin, Retruded", "Mandible, Retruded", "Retrognathism" ; rdfs:comment "This feature may be accompanied by micrognathia (microretrognathia) in which case both retrognathia and micrognathia should be specified and coded separately. Alternatively, it may be a mismatch in the relative position of the mandible and premaxilla, with normal mandibular length and premaxillary prominence and is accompanied by a class II malocclusion." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000278 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:58b4e59edca46f0a a owl:Class ; rdfs:label "Eyebrow, Highly Arched" ; IAO:0000115 " Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." ; rdfs:comment "Most eyebrows have some arch with down turning medially and laterally. We know of no normative data for eyebrow arching. Identifying this feature is dependent on the experience of the observer. It may help to closely compare the shape/arching with that of siblings and parents." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002553 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5b055d842e77449b a owl:Class ; rdfs:label "Nasal Tip, Broad" ; IAO:0000115 "Increase in width of the nasal tip. " ; oboInOwl:hasExactSynonym "Nasal Tip, Wide" ; rdfs:comment "Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000455 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5b0e213b31288acd a owl:Class ; rdfs:label "Ear, Focal Absence" ; IAO:0000115 "Absence of a localized portion of the ear, when that cannot be described by a more precise term (e.g., absent ear lobe). " ; rdfs:comment "This definition is in the terminology set to acknowledge that there may be particular instances of absent structures not captured by the included terms. The specific affected area should be noted. For example, focal absence of the triangular fossa." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0400003 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5b7ad34ab35682b5 a owl:Class ; rdfs:label "Midface Retrusion" ; IAO:0000115 " Posterior positioning and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." ; oboInOwl:hasRelatedSynonym "Midface Hypoplasia" ; rdfs:comment "This term represents underdevelopment of the maxilla (upper jaw) in length (decreased midface height) or depth (retrusion of the maxilla). In the presence of normal mandible size, midface retrusion may give the appearance of prognathism. Caution should be used in making this assessment in edentulous patients. This is different from a Flat face." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011800 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5b823be1388221a1 a owl:Class ; rdfs:label "Finger, Small" ; IAO:0000115 " Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual." ; oboInOwl:hasRelatedSynonym " Hypoplastic Finger", "Underdeveloped Finger" ; rdfs:comment "This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030033 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5bfbc4ab8a8af765 a owl:Class ; rdfs:label "Eyes, Closely Spaced" ; IAO:0000115 "Interpupillary distance more than 2 SD below the mean OR Interpupillary distance below the 3rd centile. The interpupillary distance appears to be decreased." ; oboInOwl:hasExactSynonym "Hypotelorism" ; rdfs:comment "The finding is measured according to Hall et al. [2007]. Note that the data from Hall et al. [2007] show SD for newborns and centiles for older patients. In the latter data, there is a continuing increase in this measurement between 14 and 15 years of age, so in the objective finding cannot be made using these norms in persons above 15 years of age. See Figure 3 for a gestalt of normal and abnormal eye spacing." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000601 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5c4b650c35b01f6a a owl:Class ; rdfs:label "Nail, Concave" ; IAO:0000115 " The natural longitudinal (P/D) convex arch is not present or is inverted." ; oboInOwl:hasRelatedSynonym " Spoon Shaped Nails", "Koilonychia" ; rdfs:comment "This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001598 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5cd17a3776479cf0 a owl:Class ; rdfs:label "Glabella, Depressed" ; IAO:0000115 " Posterior positioning of the midline forehead between the supraorbital ridges." ; rdfs:comment "The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. The term \"depressed\" used here is not meant to signify an active process." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011222 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5d170a29ba8032dd a owl:Class ; rdfs:label "Metatarsus Adductus" ; IAO:0000115 "The metatarsals are deviated medially (tibially). " ; rdfs:comment "This is considered subjective, as there is no objective threshold for the finding." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001840 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5dec14811ba250f8 a owl:Class ; rdfs:label "Ablepharon" ; IAO:0000115 "Absent eyelids. " ; oboInOwl:hasExactSynonym "Absent Eyelids" ; rdfs:comment "In Ablepharon the globe is continuously exposed [Stevens and Sargent, [2002]]. It is arguable whether true aplasia of the eyelids exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011224 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5e0e98c91707b90a a owl:Class ; rdfs:label "Occiput, Flat" ; IAO:0000115 "Reduced convexity of the occiput (posterior part of skull). " ; rdfs:comment "Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0005469 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5e417df50b2316f4 a owl:Class ; rdfs:label "Synophrys" ; IAO:0000115 " Meeting of the medial eyebrows in the midline." ; oboInOwl:hasRelatedSynonym "Unibrow" ; rdfs:comment "Cosmetic hair removal or shaving may obscure this feature. It is controversial whether the medial eyebrows must meet in the midline to warrant this descriptor, as opposed to eyebrows that extend markedly toward the midline but do not meet." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000664 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:5f9be10c45404a8e a owl:Class ; rdfs:label "Midface Prominence" ; IAO:0000115 " Anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle." ; oboInOwl:hasRelatedSynonym " Midface Hypertrophy", "Midface Hyperplasia" ; rdfs:comment "This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or depth (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012371 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:602d9b30a3a57990 a owl:Class ; rdfs:label "Cheekbone Prominence" ; IAO:0000115 " Enlargement of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin." ; oboInOwl:hasExactSynonym "Zygomatic Prominence" ; oboInOwl:hasRelatedSynonym "Zygomatic hyperplasia" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012370 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:603438e0616f4f69 a owl:Class ; rdfs:label "Ray, Absent" ; IAO:0000115 "The absence of all phalanges of a digit and the associated metacarpal /metatarsal. " ; rdfs:comment "This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030030 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6058e1a1964f9cb8 a owl:Class ; rdfs:label "Hand, Osseous Syndactyly of" ; IAO:0000115 "Lateral (A/P) fusion of the digits (phalanges and/or metacarpals) by hard tissue (cartilage and/or bone). " ; oboInOwl:hasRelatedSynonym "Syndactyly (without adjective)" ; rdfs:comment "Metacarpal syndactyly can be demonstrated by either a maneuver whereby the two metacarpals cannot be independently manipulated by the examiner (see Mesoaxial polydactyly for a description of this maneuver). Phalangeal syndactyly (typically seen in what used to be called a mitten hand) may be difficult to demonstrate without X-rays. The description may include the bones that are fused. Osseous syndactyly is distinct from Symphalangy where the phalanges are fused at the joint longitudinally (P/D axis). See Mesoaxial polydactyly for discussion of the use of this term with polydactyly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010492 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:60888cccac8e54b6 a owl:Class ; rdfs:label "Tooth, Supernumerary" ; IAO:0000115 "Extra tooth or teeth. " ; rdfs:comment "The most frequent supernumerary tooth is a mesiodens, which occurs between the two maxillary central incisors. Often it fails to erupt, but creates a large anterior diastema, and would not be detected on physical examination (requires X-ray evaluation). This designation excludes coexistence of primary and permanent dentition due to delayed loss of the former." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011069 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:60cabac08fa4d9dd a owl:Class ; rdfs:label "Lobe, Attached" ; IAO:0000115 "Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. " ; rdfs:comment "The earlobe does not have a dependent portion." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009907 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6283a01c833da3a0 a owl:Class ; rdfs:label "Hand, Postaxial Polydactyly of" ; IAO:0000115 "Presence of a supernumerary digit that is not a thumb. " ; oboInOwl:hasExactSynonym "Posterior Polydactyly" ; oboInOwl:hasRelatedSynonym " Posterior Duplication of the Limb/Hand", "Ulnar Polydactyly" ; rdfs:comment "Although it is appealing to believe in many cases that the supernumerary (non-thumb) digit is the most ulnar, there may be no evidence for this. When the digit is de minimus, this seems reasonable by parsimony. When it is fully formed with a supernumerary metacarpal and functional, it may be impossible to determine which of the fingers is supernumerary. Nevertheless, the designation as postaxial is reasonable given the tradition of this designation. Postaxial polydactyly has been divided into two types: A (a fully formed digit) and B (digitus minimus, or a pedunculated, non-articulating, non-functional appendage). We recognize these subtypes but note that post-axial polydactyly actually represents a spectrum from type A to type B. When the type is indeterminate, no subtype is specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100259 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6356b068603280d9 a owl:Class ; rdfs:label "Toes, Cutaneous Syndactyly of" ; IAO:0000115 "A soft tissue continuity in the A/P axis between adjacent foot digits that involves at least half of the P/D length of one of the two involved digits. A soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria." ; oboInOwl:hasRelatedSynonym " Zygodactyly", "Syndactyly (without specification)" ; rdfs:comment "The digits (or part of) are joined together by soft tissue that is not normally present between the digits at that point in the P/D axis. The definition of toe syndactyly is subtly different from that of the hand. The definition used for the hands was thought to be difficult with toes, as the phalangeal lengths are small and an assessment of the degree of syndactyly is impractical. A modifier of complete may be used if the syndactyly extends to the distal end of the nail bed. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010621 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6742bac323d3cfe9 a owl:Class ; rdfs:label "Tongue, Smooth" ; IAO:0000115 " Glossy appearance of the entire tongue surface." ; rdfs:comment "This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010298 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6a2c173d3d7e3219 a owl:Class ; rdfs:label "Foot, Partial Absence of" ; IAO:0000115 "An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. " ; rdfs:comment "See Foot, absent for a related term" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030032 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6ab37326cc1eed1d a owl:Class ; rdfs:label "Metopic Ridge, Prominent" ; IAO:0000115 " Vertical bony ridge positioned in the midline of the forehead." ; oboInOwl:hasExactSynonym "Metopic Suture, Prominent" ; rdfs:comment "The ridge may extend from the hairline to the glabella or may be partial." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0005487 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6b026aa7c197eaf8 a owl:Class ; rdfs:label "Foot, Absent" ; IAO:0000115 "The total absence of the foot, with no bony elements distal to the tibia or fibula. " ; oboInOwl:hasExactSynonym "Apodia" ; rdfs:comment "See Foot, partial absence of, for a related definition." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011301 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6c2fb154a038ab64 a owl:Class ; rdfs:label "Philtrum, Midline Sinus" ; IAO:0000115 "Pit in the midline of the philtral groove. " ; rdfs:comment "Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella [Asahina et al., [1997]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011828 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6ce5180b842edf61 a owl:Class ; rdfs:label "Foot, Long" ; IAO:0000115 "Foot length more than 2 SD above the mean for a newborn of 27-41 weeks gestation OR foot length above the 97th centile for individuals from birth to 16 years of age. A foot that appears longer than expected for age." ; rdfs:comment "Note that for females over the age of 16 years, the curves are essentially flat by 15 years of age, so the 16-year-old norms and distribution can be used for older individuals [Anderson et al., [1956]; Hall et al., [2007]]. However, the male norms still have significant growth at 16 years, where the graph ends. Therefore, only subjective assessments can be made for males over the age of 16 years. For infants, the norms are specified in SD, per the primary source [Merlob et al., [1984]]. Because of the wide range of normal for foot measurements, it may be hard to discriminate a long foot of normal width from that of a narrow foot of normal length, thus the subjective definition is substantially inferior. If the toes are also long, that should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001833 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6d82cc5a5f23eb61 a owl:Class ; rdfs:label "Fingers, Overlapping" ; IAO:0000115 "A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. " ; rdfs:comment "This descriptor is ordered depending on which digits are involved (see figure legend for examples). The affected digits should be specified. The ordering of the numbers specifies which digit is dorsal, that is, with dorsum of the hand facing upward the digit on top is/are recorded first separated by a comma from the digit that is/are overlapped. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010557 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6edfece89c0b7df3 a owl:Class ; rdfs:label "Pes Cavus" ; IAO:0000115 " The presence of an unusually high plantar arch." ; oboInOwl:hasRelatedSynonym "High Arch" ; rdfs:comment "This is a subjective definition for which we could identify no thresholds or standards. Examiners must rely on their experience to make this assessment." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001761 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6ef36fa1dadd90f9 a owl:Class ; rdfs:label "Alveolar Ridge Overgrowth" ; IAO:0000115 " Increased width of the alveolar ridges." ; oboInOwl:hasRelatedSynonym "Alveolar Ridge Hypertrophy" ; rdfs:comment "This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or Gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009085 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:6f437512a502776b a owl:Class ; rdfs:label "Face, Triangular" ; IAO:0000115 " Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." ; rdfs:comment "This feature is distinct from Narrow jaw where width of the midface is unchanged." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000325 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:701f27bab4ac3f92 a owl:Class ; rdfs:label "Mouth, Downturned Corners of" ; IAO:0000115 " Oral commissures positioned inferior to the midline labial fissure." ; oboInOwl:hasRelatedSynonym " Fish Mouth (pejorative terms)", "Carp Mouth" ; rdfs:comment "This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002714 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:70623e4ed8339bf7 a owl:Class ; rdfs:label "Premaxillary Prominence" ; IAO:0000115 " Overdevelopment of the premaxilla." ; oboInOwl:hasExactSynonym "Premaxillary Hyperplasia" ; rdfs:comment "As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010759 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:70a0a128965515c4 a owl:Class ; rdfs:label "Palate, Narrow" ; IAO:0000115 "Width of the palate more than 2 SD below the mean. apparently decreased palatal width." ; rdfs:comment "Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term \"gothic palate\" is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000189 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7124d8708f2360b3 a owl:Class ; rdfs:label "Nose, Bifid" ; IAO:0000115 " Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." ; rdfs:comment "This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011803 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:714b8183c86b9984 a owl:Class ; rdfs:label "Cryptotia" ; IAO:0000115 "Invagination of the superior part of the auricle under a fold of temporal skin. " ; rdfs:comment "There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized: Type I, the antihelix and superior crus are reduced in size (Fig. a); Type II, it is the antihelix and inferior crus that are affected (Fig. b) [Hirose et al., [1985]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011252 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7180b5fd118178e6 a owl:Class ; rdfs:label "Premaxillary Underdevelopment" ; IAO:0000115 " Reduction in size of the premaxilla." ; oboInOwl:hasExactSynonym "Premaxillary Hypoplasia" ; rdfs:comment "As a consequence of underdevelopment of the premaxilla, the overlying structures, the nose and philtrum, may appear flattened. There is increased concavity of the face and a reduced nasolabial angle. In the presence of a normal sized mandible, prognathism may be appreciated." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010650 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:71d9f1be67c7f8b6 a owl:Class ; rdfs:label "Eyes, Widely Spaced" ; IAO:0000115 "Interpupillary distance more than 2 SD above the mean (newborns 27-41 weeks gestational age) OR Interpupillary distance above the 97th centile (0-15 years of age). The interpupillary distance appears to be increased." ; oboInOwl:hasExactSynonym "Hypertelorism" ; rdfs:comment "The finding is measured according to Hall et al. [2007]. Note that the data from Hall et al. [2007] show continuing increase in this measurement between 14 and 15 years of age, so this finding should only be made according to the subjective definition in persons above 15 years of age. It is important to distinguish between truly increased interpupillary distance and the apparently increased spacing that is caused by Telecanthus (see that entry for additional discussion). See Figure 3 for an illustration of variations of eye spacing." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000316 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:725bbe4f8afaf490 a owl:Class ; rdfs:label "Hallux, Absent" ; IAO:0000115 "The absence of both phalanges of a hallux and the associated soft tissues. " ; oboInOwl:hasExactSynonym "Absent Great Toe" ; oboInOwl:hasRelatedSynonym " Oligodactyly", "Hypodactyly" ; rdfs:comment "This descriptor does not require absence of the metatarsal. The definition excludes partial absent hallux. Oligodactyly and hypodactyly are replaced with more specific terms to allow the distinction of loss of a preaxial digit (thumb or great toe) from loss of digits 2-5. When a great toe and one or more other toes are absent, it may be more economical to specify Absent toes, T1-3 instead of separately specifying Absent hallux and Absent toes T2-3." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012386 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:727ae65037875fa9 a owl:Class ; rdfs:label "Hand, Trident" ; IAO:0000115 " Splaying of F2-4 along the A/P axis (in the plane of the palm) with relatively normal positioning of F1 and F5." ; rdfs:comment "This term is a subtype of splaying of the digits, but its diagnostic utility warrants a separate definition. Note is made that there were a number of different definitions of this term among the terminology group members. However, this definition was the consensus." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0004060 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:72c0a8d95e9ece54 a owl:Class ; rdfs:label "Cupid's Bow, Absent" ; IAO:0000115 "Lack of paramedian peaks and median notch of the upper lip vermilion. " ; rdfs:comment "This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately [Hennekam et al., [2009]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010800 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:73e4e8bb2eec316d a owl:Class ; rdfs:label "Nasal Cartilage, Absent" ; IAO:0000115 "Lack of a palpable nasal cartilage. " ; rdfs:comment "This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030028 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:741294084e243d0a a owl:Class ; rdfs:label "Diastema" ; IAO:0000115 " Increased space between two adjacent teeth in the same dental arch." ; rdfs:comment "Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000699 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:74e893c894584eb8 a owl:Class ; rdfs:label "Oligodontia" ; IAO:0000115 " " ; rdfs:comment "The term is not defined here since the finding requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al., [2001]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000677 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7515f487e834719e a owl:Class ; rdfs:label "Palm, Long" ; IAO:0000115 "For children from birth to 16 years of age the length of the palm is more than the 97th centile. The length of the palm appears relatively long compared to the finger length or the limb length." ; oboInOwl:hasRelatedSynonym "Long Hand" ; rdfs:comment "Palm length standards are found in Feingold and Bossert [1974] and Hall et al. [2007]. The palm is measured from the distal wrist flexion crease to the flexion crease of the F3 MCPJ. The term long hand should not be used as it is a bundled definition of two readily separable terms, Long fingers (which, as noted above, can itself be a bundled term) and Long palm." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011302 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:759574beb4e79282 a owl:Class ; rdfs:label "Hand, Radial Deviation of" ; IAO:0000115 " Divergence of the longitudinal axis of the hand at the wrist in a anterior (radial) direction." ; oboInOwl:hasRelatedSynonym " Clubhand", "Radial Clubhand" ; rdfs:comment "This finding may be associated with a short or absent radius, but that is not required and should be coded separately. The term \"clubhand\" is replaced because it was felt to be pejorative." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009486 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:765f49f1e824f0d2 a owl:Class ; rdfs:label "Proptosis" ; IAO:0000115 "An eye that is protruding anterior to the plane of the face to a greater extent than is typical. " ; oboInOwl:hasExactSynonym "Prominent Eyes" ; rdfs:comment "This finding should be distinguished from underdevelopment of the supraorbital ridge or maxilla/zygoma. In Proptosis, the globe is anteriorly protuberant in comparison to the overall plane of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000520 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:771f667b2368ec93 a owl:Class ; rdfs:label "Proboscis" ; IAO:0000115 "a fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. " ; rdfs:comment "A proboscis has a single cavity [McGrath, [1992]]. It may be found in association with a malformed nose and absence of one or both nares." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012806 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:772ac515a9d807de a owl:Class ; rdfs:label "Toes, Widely Spaced" ; IAO:0000115 " An overall widening of the spaces between the digits." ; rdfs:comment "This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0008094 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:77725e7564f6808c a owl:Class ; rdfs:label "Tooth, Premature Loss" ; IAO:0000115 "Exfoliation of a primary tooth or teeth earlier than the normal range. " ; rdfs:comment "See ranges in Kleigman et al. [2007] and Gorlin et al. [2001]. The range of ages in years for normal exfoliation of primary teeth usually precedes the mean age of eruption of each tooth by a year or less." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0006480 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:77bdc627bdaf29d3 a owl:Class ; rdfs:label "Helix, Overfolded" ; IAO:0000115 " Excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear, as illustrated in Figure 2 from Helix, Cleft and the Figure to the right." ; rdfs:comment "This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable, and the range is illustrated in Figures 2 and 3 from Helix, Cleft." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000396 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:784956e8f2b55a24 a owl:Class ; rdfs:label "Skull, Cloverleaf" ; IAO:0000115 " Trilobar skull configuration when viewed from the front or behind." ; oboInOwl:hasExactSynonym "Kleeblattschadel" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002676 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:78a1f63d1b14a563 a owl:Class ; rdfs:label "Lobe, Small" ; IAO:0000115 " Reduced volume of the earlobe (Fig. a,b)." ; oboInOwl:hasRelatedSynonym " Hypotrophic Lobe", "Hypoplastic Lobe" ; rdfs:comment "All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable, and the range is illustrated to the right." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000385 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:78d33d68e0aba09c a owl:Class ; rdfs:label "Eruption, Delayed" ; IAO:0000115 "Tooth eruption more than 2 SD beyond the mean eruption age. " ; rdfs:comment "This term should not be used in a patient with Gingival overgrowth. There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al., [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000684 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:792cfeacf93ca391 a owl:Class ; rdfs:label "Pit, Preauricular" ; IAO:0000115 "Small indentation anterior to the insertion of the ear. " ; rdfs:comment "The location of these pits is the plane of fusion of the first branchial cleft [Wood-Jones and I-Chuan, [1933]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0004467 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7983ce06c92a2901 a owl:Class ; rdfs:label "Thumb, Hitchhiker" ; IAO:0000115 "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle ≥ 90 degrees with the long axis of the hand. " ; oboInOwl:hasRelatedSynonym "Abducted Thumb" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001234 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7a571bf428560137 a owl:Class ; rdfs:label "Vermilion, Lower Lip, Everted" ; IAO:0000115 " Inner aspect of the lower lip vermilion (normally apposing the teeth) visible in a frontal view." ; oboInOwl:hasRelatedSynonym "Drooping Lower Lip" ; rdfs:comment "In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as \"pouting,\" but this designation is a functional term." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000232 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7a5d2cf40398f848 a owl:Class ; rdfs:label "Uvula, Broad" ; IAO:0000115 " Increased width of the uvula." ; rdfs:comment "This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010809 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7a6e82e75df86f9d a owl:Class ; rdfs:label "Face, Square" ; IAO:0000115 " Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." ; rdfs:comment "Square face shape is usually related to increased lower facial width (a bigonial distance more than 2 SD above the mean). In Broad jaw the lower face is wider than the upper face." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000321 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7a84828f99c2a843 a owl:Class ; rdfs:label "Toe, Slender" ; IAO:0000115 " Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." ; oboInOwl:hasExactSynonym "Narrow Digit", "Narrow Toe" ; oboInOwl:hasRelatedSynonym " Arachnodactyly", "Thin Digits" ; rdfs:comment "The affected digits should be specified. The assessment of this finding is difficult when the digits are long. The bundled and pejorative term arachnodactyly is replaced by the separate descriptors Long toe and Slender toe." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011308 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7b35ab331c574d96 a owl:Class ; rdfs:label "Hand, Clenched" ; IAO:0000115 " All digits held completely flexed at the metacarpophalangeal and interphalangeal joints." ; rdfs:comment "Is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001188 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7c222af1a91aae93 a owl:Class ; rdfs:label "Hallux, Broad" ; IAO:0000115 " Visible increase in width of the hallux without an increase in the dorso-ventral dimension." ; oboInOwl:hasExactSynonym "Broad Great Toe" ; rdfs:comment "Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short. Note the separate definition for Broad toes. When a great toes and one or more other toes are affected, it may be more economical to specify Broad toes, T1-5 instead of separately specifying Broad hallux and Broad toes T2-5." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010055 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7c4085d40e70f0c9 a owl:Class ; rdfs:label "Chin, Pointed" ; IAO:0000115 " A marked tapering of the lower face to the chin." ; rdfs:comment "The two rami of the mandible meet at an acute angle." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000307 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7c4361de824e3eff a owl:Class ; rdfs:label "Helix, Darwin Tubercle" ; IAO:0000115 "Small expansion of the helical fold at the junction of the superior and descending portions of the helix (Fig. a). " ; rdfs:comment "Defects at other points along the helix are coded as Cleft helix." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011261 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7c963baf8e0fd48f a owl:Class ; rdfs:label "Neck, Long" ; IAO:0000115 " Increased distance from the point where neck and shoulders meet to the inferior margin of the occipital bone." ; rdfs:comment "No objective measure is available." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000472 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7d4225feb7a8771b a owl:Class ; rdfs:label "Columella, Broad" ; IAO:0000115 " Increased width of the columella." ; oboInOwl:hasExactSynonym "Columella, Wide" ; rdfs:comment "The columella should be viewed from below. This feature should be distinguished from Narrow nares although both may be present in a given individual." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010761 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7d54404e36c3ddb9 a owl:Class ; rdfs:label "Palpebral Fissure, Long" ; IAO:0000115 "Distance between the medial and lateral canthi is more than 2 SD above the mean for age. Apparently increased length of the palpebral fissures." ; oboInOwl:hasRelatedSynonym "Wide Palpebral Fissure" ; rdfs:comment "Measurement techniques and norms are as specified in Hall et al. [2007] and Farkas [1994]. The term \"wide palpebral fissure\" is discouraged because this term is vague with respect to which dimension (vertical vs. horizontal) it refers to, coupled with the popular definition of \"wide-eyed,\" which refers to palpebral fissure height." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000637 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:7d7813d2713bd4d2 a owl:Class ; rdfs:label "Philtrum, Short" ; IAO:0000115 "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Apparently decreased distance between nasal base and midline upper lip vermilion border." ; rdfs:comment "Usually the nasal columella inserts at the base of the nose. A Low insertion of the columella leads to shortening of the philtrum, but these should be coded separately. Using the insertion of the columella as the upper limit of the philtrum would then lead to a false shortening. An Everted upper lip often leads to the subjective appearance of a short philtrum but these should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000322 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:811c4c37ac5a130b a owl:Class ; rdfs:label "Face, Long" ; IAO:0000115 "Facial height (length) is more than 2 SD above the mean. An apparent increase in the height (length) of the face." ; oboInOwl:hasExactSynonym "Face, Elongated" ; rdfs:comment "Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline [Farkas, [1981]]. Long face is distinct from Narrow face." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000276 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:81ce3ff78dc34290 a owl:Class ; rdfs:label "Polydactyly, Mirror Image" ; IAO:0000115 " A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes." ; rdfs:comment "This is considered to be a subjective assessment. Although polydactyly is obviously objective, the assessment of the A/P symmetry component is arguably subjective. It may be associated with a forearm that has two ulnae, but this is not required for the finding to be made." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010689 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:81db216382f501fc a owl:Class ; rdfs:label "Malar Flattening" ; IAO:0000115 " Underdevelopment of the malar (frontal) process of the maxilla, appreciated in profile and/or by palpation." ; oboInOwl:hasRelatedSynonym "Malar Hypoplasia (surface examination cannot distinguish hypoplasia from hypotrophy)" ; rdfs:comment "The malar process is the most medial and superior portion of the maxilla, contiguous with the lateral boundary of the nasal bridge." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000272 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:826a4e437174b450 a owl:Class ; rdfs:label "Uvula, Long" ; IAO:0000115 " Increased length of the uvula." ; rdfs:comment "In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010810 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8280aa96e24e69de a owl:Class ; rdfs:label "Lip Freckle" ; IAO:0000115 " Increased focal pigmentation of the vermilion of the lips." ; oboInOwl:hasExactSynonym "Lip Lentigo" ; rdfs:comment "Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010798 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:828a352227deae4b a owl:Class ; rdfs:label "Nasal Ridge, Convex" ; IAO:0000115 "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. " ; oboInOwl:hasRelatedSynonym " Nose, Hooked", "Nose, Beaked" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000444 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:83080988670111f0 a owl:Class ; rdfs:label "Vermilion, Lower Lip, Thin" ; IAO:0000115 "Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. apparently reduced height of the vermilion of the lower lip in the frontal view." ; rdfs:comment "Normal values for the height of the vermilion are available [Farkas, [1981]] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010282 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:840bb56a627f1475 a owl:Class ; rdfs:label "Lobe, Absent" ; IAO:0000115 "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura (Figs. 1 and 2). " ; rdfs:comment "See Attached lobe for a finding that should be distinguished from Absent lobe." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000387 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:845ab90722d28487 a owl:Class ; rdfs:label "Fibrous Syngnathia" ; IAO:0000115 " Complete or nearly complete soft tissue fusion of the alveolar ridges." ; oboInOwl:hasExactSynonym "Fusion of the Alveolar Ridges" ; rdfs:comment "This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes Oral synechiae." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009754 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:860b87ff24a50048 a owl:Class ; rdfs:label "Foot, Short" ; IAO:0000115 "A measured foot length that is more than 2 SD below the mean for a newborn of 27-41 weeks gestation OR A foot that is less than the 3rd centile for individuals from birth to 16 years of age. A foot that appears disproportionately short." ; rdfs:comment "Note that for females over the age of 16 years, the curves are essentially flat by 15 years of age, so the 16-year-old norms and distribution can be used for older individuals [Anderson et al., [1956]; Hall et al., [2007]]. However, the male norms still show significant growth at 16 years, where the graph ends. Therefore, only subjective assessments can be made for older males. For infants, the norms are specified in SD, per the primary source [Merlob et al., [1984]]. Foot length includes the relatively long calcaneus and tarsal bones as well as the metatarsals and first toe, and so the hand and foot measurements may reflect different growth abnormalities. Foot length should be interpreted with caution if the individual has either Pes cavus or Pes planus." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001773 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:861854a2beef4669 a owl:Class ; rdfs:label "Palm, Short" ; IAO:0000115 "For children from birth to 16 years of age the length of the palm is less than the 3rd centile. The length of the palm appears relatively small compared to the finger length or the limb length." ; oboInOwl:hasRelatedSynonym "Short Hand" ; rdfs:comment "Palm length is measured as described in Feingold and Bossert [1974] and Hall et al. [2007]. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Short metacarpal. See the entry for Small hand for a discussion of this finding. Short hand should not be used as it is a bundle of two readily separable terms, Short fingers (which, as noted above, can itself be a bundled term) and Short palm." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0004279 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:86c3214f72d0c4e7 a owl:Class ; rdfs:label "Foot, Broad" ; IAO:0000115 "A foot for which the measured width is above the 95th centile for age. A foot that appears disproportionately wide for its length." ; oboInOwl:hasExactSynonym "Wide Foot" ; rdfs:comment "Note that the normative data [Malina et al., [1973]; Hall et al., [2007]] only include 4-16 year olds. Since foot width is still increasing at the 16-year-old age point on the graphs, extrapolation is not recommended. Therefore, persons more than 16 years of age or less than 4 years of age can only be assessed subjectively (until appropriate norms are identified or generated). The Hall et al. [2007] handbook (pp. 238-239) states that foot width should be measured from the medial aspect of the first MTPJ to the lateral aspect of the fifth MTPJ. The subjective definition should be used with caution in patients with Short feet. In persons with polydactyly that includes a supernumerary metatarsal, the measurement definition from Hall et al. [2007] would need to be modified to account for the supernumerary digit (i.e., if the patient had postaxial polydactyly, measure from the sixth MTPJ). It may be argued that this is double counting polydactyly as a wide foot, as the norms are derived from those with pentadactylous limbs." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001769 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:86ef7ecfa97371f2 a owl:Class ; rdfs:label "Heel, Prominent" ; IAO:0000115 " Exaggerated or marked projection of the posterior pole of the heel." ; rdfs:comment "No sensible thresholds or landmarks could be identified for this finding so the examiners must rely on their experience." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012428 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:87f7fd4185cf006d a owl:Class ; rdfs:label "Nasal Bridge, Narrow" ; IAO:0000115 " Decreased width of the bony bridge of the nose." ; oboInOwl:hasExactSynonym "Nasal Bridge, Thin" ; rdfs:comment "The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000446 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:88ebc039bbbaef0f a owl:Class ; rdfs:label "Blepharophimosis" ; IAO:0000115 " A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." ; rdfs:comment "This term is derived from Cunniff et al. [1998]. It is an acknowledged bundled term. When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000581 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:89bbddff1c94bf45 a owl:Class ; rdfs:label "Uvula, Cleft" ; IAO:0000115 "Uvula separated into two parts most easily seen at the tip. " ; oboInOwl:hasExactSynonym "Bifid Uvula" ; rdfs:comment "Submucous cleft palate is a distinct entity." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000193 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8a41e86a6f4800b2 a owl:Class ; rdfs:label "Helix, Crus, Serpiginous" ; IAO:0000115 " Curving course of the crus of the helix, approaching or joining the antitragus." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011257 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8a5493c72e0dd13c a owl:Class ; rdfs:label "Chin, Vertical Crease" ; IAO:0000115 " Vertical crease in the fat pad of the chin with the face at rest." ; oboInOwl:hasExactSynonym "Chin, Cleft" ; rdfs:comment "A vertical crease must be distinguished from an H-shaped crease of the chin." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0400001 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8ae2118220c1308f a owl:Class ; rdfs:label "Microcephaly" ; IAO:0000115 "Occipito-frontal (head) circumference (OFC) less than 3rd centile compared to appropriate, age matched, normal standards. Apparently decreased size of the cranium." ; oboInOwl:hasExactSynonym "Head circumference, reduced", "OFC, reduced" ; oboInOwl:hasRelatedSynonym "Microcranium" ; rdfs:comment "Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al., [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000252 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8b2ea8525fbaf767 a owl:Class ; rdfs:label "Anotia" ; IAO:0000115 "Complete absence of any auricular structures. " ; oboInOwl:hasExactSynonym "Ear, Absent" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009892 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8b4ac9cc8a79aa3e a owl:Class ; rdfs:label "Epicanthus" ; IAO:0000115 " A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." ; oboInOwl:hasExactSynonym "Epicanthal Fold", "Epicanthus Palpebralis" ; rdfs:comment "In extreme cases, the skin fold can start as high as the eyebrow [Hall et al., [2007]]. This is called epicanthus superciliaris." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000286 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8b9d29aa3e1824cb a owl:Class ; rdfs:label "Naris, Narrow" ; IAO:0000115 " Slender, slit-like aperture of the nostril." ; oboInOwl:hasExactSynonym "Naris, Slit-like", "Naris, Thin" ; rdfs:comment "The shape of the nostrils has been classified into four main types by Paul Topinard (1830-1911) (Fig. 2). This classification is not in general use." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009933 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8b9d550b8b96c39e a owl:Class ; rdfs:label "Uvula, Absent" ; IAO:0000115 "Lack of the uvula. " ; rdfs:comment "Sometimes accompanies a Submucous cleft palate, but this should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010292 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8bbf61b4ad7ca2ef a owl:Class ; rdfs:label "Micrognathia" ; IAO:0000115 " Apparently reduced length and width of the mandible when viewed from the front but not from the side." ; oboInOwl:hasExactSynonym "Jaw, Small", "Micrognathism" ; rdfs:comment "This is a bundled term comprising shortening and narrowing of the mandible and chin. It is defined here as it is a term in common usage." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000347 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8cf5bb1a10ac0831 a owl:Class ; rdfs:label "Eyebrow, Horizontal" ; IAO:0000115 " An eyebrow that extends straight across the brow, without curve." ; oboInOwl:hasExactSynonym "Eyebrow, Straight" ; rdfs:comment "Evaluation should be performed with the face at rest. Horizontal eyebrows are an uncommon finding." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011228 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8d43bc35c52b37c0 a owl:Class ; rdfs:label "Palmar Crease, Absent" ; IAO:0000115 " The absence of a major crease of the palm (distal transverse crease, proximal transverse crease, or thenar crease)." ; rdfs:comment "This term is not used to describe the missing crease in the case of a patient with a single transverse palmar crease." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010489 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8d8e657ae8008656 a owl:Class ; rdfs:label "Tragus, Underdeveloped" ; IAO:0000115 " Decreased posterolateral protrusion of the tragus (Figs. 2b [line 1] from Tragus, Absent and reference a,b from Tragus, Prominent)." ; oboInOwl:hasExactSynonym "Small Tragus" ; oboInOwl:hasRelatedSynonym " Hypotrophic Tragus", "Hypoplastic Tragus" ; rdfs:comment "This finding is highly variable, and the range is illustrated in Figure 2 Tragus, Absent and the Figure from Tragus, Prominent." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011272 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8dd1c7fa2f120377 a owl:Class ; rdfs:label "Palmar Crease, Deep" ; IAO:0000115 " Excessively deep creases of the palm." ; rdfs:comment "Like the term Decreased palmar creases, this assessment requires an experienced observer to distinguish this from common crease variation. One view is that deep creases are those in which lint could still get stuck, even if the palm is fully opened." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0006191 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8dfc06784a55ff7b a owl:Class ; rdfs:label "Ear, Low-Set" ; IAO:0000115 "Upper insertion of the ear to the scalp below an imaginary horizontal passing through the inner canthi and extend that line posteriorly to the ear. " ; rdfs:comment "The position of the ear can be determined in four different ways [Hall et al., [2007]]. There is some controversy regarding objective assessments of ear position as methods do not place the ear with respect to a fixed plane [Hall et al., [2007]]. The Frankfurt plane uses the position of the auditory meatus as a landmark and thus can not be used to assess ear position. If palpebral fissures run horizontal they can be used to guide the plane. The definition used here minimizes the problem whereby the position of the subject's head relative to the observer may influence the subjective impression of the position of the ears. Subjective assessment of ear position is unacceptable since it is unreliable and often confounded by changes in head shape, size and tilt or changes in ear anatomy, especially the superior portion." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000369 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:8ea165ff88fe04c3 a owl:Class ; rdfs:label "Palpebral Fissure, Short" ; IAO:0000115 "Distance between the medial and lateral canthi is more than 2 SD below the mean for age. Apparently reduced length of the palpebral fissures." ; rdfs:comment "Measurement techniques and norms are as specified in Hall et al. [2007] and Farkas [1994]. These sources include more complete data for Caucasians than for other groups. Decreased palpebral fissure length may be accompanied by a decreased vertical distance between the upper and lower eyelid, which gives the eyes a more slit-like appearance and may give the appearance of Ptosis, but this should be coded separately if it is present. Severe shortening of the palpebral fissures leads to Blepharophimosis." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012745 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:901e03be3fdf0a9e a owl:Class ; rdfs:label "Thumb, Absent" ; IAO:0000115 "The absence of both phalanges of a thumb and the associated soft tissues. " ; oboInOwl:hasRelatedSynonym " Oligodactyly", "Hypodactyly" ; rdfs:comment "This descriptor does not require absence of the metacarpal. This definition excludes Partial absence of the thumb. Oligodactyly and hypodactyly have been replaced with more specific terms to allow the distinction of loss of a thumb from loss of F2-5. The term oligodactyly is replaced because oligodactyly refers to the digits that remain, and so oligodactyly of the thumb or oligodactyly F1 is nonsensical." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009777 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:90a6f3c1605fb539 a owl:Class ; rdfs:label "Nail, Thick" ; IAO:0000115 " Nail that appears thick when viewed on end." ; oboInOwl:hasRelatedSynonym " Pachyonychia", "Onychogryposis" ; rdfs:comment "No objective standard for nail thickness could be identified although an unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001805 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:910cbac72b006ae2 a owl:Class ; rdfs:label "Nasolabial Fold, Underdeveloped" ; IAO:0000115 " Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)." ; oboInOwl:hasExactSynonym "Nasolabial Crease, Hypoplastic", "Nasolabial Crease, Underdeveloped", "Nasolabial Fold, Hypoplastic" ; oboInOwl:hasRelatedSynonym " Nasolabial Fold, Hypoplastic", "Nasolabial Crease, Hypoplastic" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010801 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:913a7d5a25c24e6a a owl:Class ; rdfs:label "Forehead, Sloping" ; IAO:0000115 "Inclination of the anterior surface of the forehead from the vertical more than 2 SD above the mean. Apparently excessive posterior sloping of the forehead in a lateral view." ; rdfs:comment "Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical [Farkas, [1981]] with the head held in the Frankfurt horizontal." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000340 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9195b436dc41552e a owl:Class ; rdfs:label "Helix, Crus, Absent" ; IAO:0000115 " Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011255 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:920b3a970339ac8a a owl:Class ; rdfs:label "Ankyloglossia" ; IAO:0000115 " Short or anteriorly attached lingual frenulum associated with limited mobility of the tongue." ; oboInOwl:hasRelatedSynonym " Tongue Tie", "Ankyloglossia Inferiorum" ; rdfs:comment "The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (\"ankyloglossia inferiorum\") to a lingual frenulum that is short or anchored toward the tip of the tongue (\"tongue tie\"). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010296 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9270f3697f4bc7b7 a owl:Class ; rdfs:label "Nasolabial Fold, Underdeveloped" ; IAO:0000115 " Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)." ; oboInOwl:hasExactSynonym "Nasolabial Crease, Underdeveloped" ; oboInOwl:hasRelatedSynonym " Nasolabial Fold, Hypoplastic", "Nasolabial Crease, Hypoplastic" ; rdfs:comment "See Allanson et al. [2009b]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010801 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:93f564302b51fbea a owl:Class ; rdfs:label "Toe, Partial Absence of" ; IAO:0000115 "The absence of a phalangeal segment of a toe or hallux. " ; oboInOwl:hasRelatedSynonym "Hypophalangy" ; rdfs:comment "The part that is absent may be specified. The distal modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The proximal modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011305 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:94298128548b28e5 a owl:Class ; rdfs:label "Sole, Convex Contour of" ; IAO:0000115 " The contour of the foot in lateral profile has a convex shape." ; rdfs:comment "This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker bottom foot." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011303 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:94397cb38ffc70aa a owl:Class ; rdfs:label "Thenar Eminence, Small" ; IAO:0000115 " Reduced palmar soft tissue mass surrounding the base of the thumb." ; oboInOwl:hasRelatedSynonym "Thenar Hypoplasia" ; rdfs:comment "The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001245 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9638e4ba815e5908 a owl:Class ; rdfs:label "Tongue, Large" ; IAO:0000115 " Increased length and width of the tongue." ; oboInOwl:hasExactSynonym "Hyperplasia of the Tongue", "Hypertrophy of the Tongue", "Macroglossia" ; rdfs:comment "Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000158 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:96d8ca16a3c80216 a owl:Class ; rdfs:label "Chin, Tall" ; IAO:0000115 " Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin." ; oboInOwl:hasExactSynonym "Chin, Long" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0400000 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:96e21ae7eb9ab9ea a owl:Class ; rdfs:label "Chin, H-Shaped Crease" ; IAO:0000115 " H-shaped crease in the fat pad of the chin." ; oboInOwl:hasExactSynonym "Chin, H-shaped Groove" ; rdfs:comment "The H-shape must be distinguished from Vertical crease of the chin." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011824 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9715c0d26641b008 a owl:Class ; rdfs:label "Perioral Hyperpigmentation" ; IAO:0000115 " Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips." ; rdfs:comment "Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010802 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:972ec2048ab703dd a owl:Class ; rdfs:label "Antitragus, Prominent" ; IAO:0000115 " Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." ; oboInOwl:hasExactSynonym "Antitragus, Enlarged" ; oboInOwl:hasRelatedSynonym " Antitragus, Hypertrophic", "Antitragus, Hyperplastic" ; rdfs:comment "This finding is highly variable, and the range is illustrated in the figure to the right and the figures from Antitragus, Absent." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0008593 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:97b601adeb79955a a owl:Class ; rdfs:label "Tongue, Furrowed" ; IAO:0000115 " Accentuation of the grooves on the dorsal surface of the tongue." ; oboInOwl:hasExactSynonym "Prominent Tongue Grooves" ; oboInOwl:hasRelatedSynonym "Scrotal Tongue (pejorative)" ; rdfs:comment "Usually there is a midline groove with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000221 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:97d86f6834b60d20 a owl:Class ; rdfs:label "Vermilion, Upper Lip, Everted" ; IAO:0000115 " Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view." ; rdfs:comment "In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010803 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:990cccce54c6f32e a owl:Class ; rdfs:label "Toe, Short" ; IAO:0000115 " Digits that appear disproportionately short compared to the foot." ; oboInOwl:hasExactSynonym "Brachydactyly of the Foot" ; rdfs:comment "This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification (see Short fingers)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001831 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:995a2398db7eefe2 a owl:Class ; rdfs:label "Blepharochalasis" ; IAO:0000115 " Lax, wrinkled, and baggy eyelid skin." ; rdfs:comment "This finding is usually more apparent in the upper eyelid. The eyelid tissue thickness is usually also reduced. The feature is frequent in older persons [Held and Schneiderman, [1990]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010749 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:997c7a12a3ac4f88 a owl:Class ; rdfs:label "Dental Crowding" ; IAO:0000115 " Overlapping teeth within an alveolar ridge." ; rdfs:comment "This is a bundled term. There is a discrepancy in the size or number of the teeth compared to the size of the alveolar ridges." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000678 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9a12a73efb8c8e6d a owl:Class ; rdfs:label "Hand, Absent" ; IAO:0000115 "The total absence of the hand, with no bony elements distal to the radius or ulna. " ; oboInOwl:hasExactSynonym "Acheiria" ; rdfs:comment "See Hand, partial absence for a related term." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0004050 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9aefd466e74d3204 a owl:Class ; rdfs:label "Ankyloblepharon" ; IAO:0000115 "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. " ; oboInOwl:hasExactSynonym "Ankyloblepharon Filiforme Adnatum", "Eyelid Synechiae" ; rdfs:comment "This term derives from Weiss et al. [1992]. A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that this term is distinct from Cryptophthalmos." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009755 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9bde4f34124865f2 a owl:Class ; rdfs:label "Sydney Crease" ; IAO:0000115 "Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. " ; rdfs:comment "The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011311 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9bf02f584f83b723 a owl:Class ; rdfs:label "Columella, Short" ; IAO:0000115 " Reduced distance from the anterior border of the naris to the subnasale." ; rdfs:comment "This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002000 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9c34de05a3d5ffec a owl:Class ; rdfs:label "Face, Broad" ; IAO:0000115 "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 SD above the mean. An apparent increase in the width of the face." ; rdfs:comment "Objective measurement of upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until maximum width is determined. Objective measurement of the lower face is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible [Farkas, [1981]]. Broad face is distinct from Round face." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000283 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9d425f5e9624c299 a owl:Class ; rdfs:label "Eyelashes, Absent" ; IAO:0000115 "No eyelashes are present. " ; oboInOwl:hasExactSynonym "Atrichia of Eyelashes" ; rdfs:comment "This term is based on Ahmad et al. [1998]. Often this finding is congenital and associated with alopecia universalis, but this should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000561 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9d6b7c2eb57b8e7c a owl:Class ; rdfs:label "Oral Synechia" ; IAO:0000115 "Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. " ; rdfs:comment "These bands must be distinguished from synechiae between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip [Gorlin et al., [2001]]. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010285 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9e437807a84df0c8 a owl:Class ; rdfs:label "Antihelix, Stem, Serpiginous" ; IAO:0000115 " Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011241 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:9f93cc26e0da17b6 a owl:Class ; rdfs:label "Ear, Crumpled" ; IAO:0000115 " Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds." ; rdfs:comment "This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009901 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a0032340b8d88db2 a owl:Class ; rdfs:label "Thumb, Partial Absence of" ; IAO:0000115 "The absence of a phalangeal segment of a thumb. " ; oboInOwl:hasRelatedSynonym "Hypophalangy" ; rdfs:comment "The part that is absent may be specified. The distal modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The proximal modifier specifies the loss of the proximal phalanx. This finding is distinct from Short thumb." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009659 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a071e7b4194e878e a owl:Class ; rdfs:label "Pes Planus" ; IAO:0000115 "A foot where the arch is in contact with the ground or floor when the individual is standing OR In a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing. The height of the arch is reduced." ; oboInOwl:hasRelatedSynonym " Fallen Arches", "Dropped Arches" ; rdfs:comment "The second definition was conceived by this working group based on a common-sense analysis of how one could generalize the first definition to a non-ambulatory individual. There are no data on this assessment and we invite feedback on its utility." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001763 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a09a7f91f852eeca a owl:Class ; rdfs:label "Digital Constriction Ring" ; IAO:0000115 " A narrow segment of significantly reduced circumference of a digit." ; oboInOwl:hasRelatedSynonym "Amniotic Bands" ; rdfs:comment "The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010491 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a0ee2a626647e6be a owl:Class ; rdfs:label "Helix, Crus, Prominent" ; IAO:0000115 " Development of the crus helix to the same degree as an average antihelix stem or helix." ; oboInOwl:hasRelatedSynonym " Hyperplastic Crus Helix", "Hypertrophic Crus Helix" ; rdfs:comment "This finding is highly variable, and the range is illustrated in the figure to the right. Judgment of prominence is highly subjective and may be influenced by the relative development of the other ear components. There appears to be a correlation between the length of the crus helix and its relative prominence, but these should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009899 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a11fc3b105004e89 a owl:Class ; rdfs:label "Hypothenar Eminence, Small" ; IAO:0000115 " Reduced muscle mass on the ulnar side of the palm." ; rdfs:comment "The reduced soft tissue is typically abductor digiti minimi and flexor digiti minimi brevis. This may be even more difficult to discern than is Small thenar eminence, but the same considerations outlined in that definition apply." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010487 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a1e42d67c7465887 a owl:Class ; rdfs:label "Nail, Ridged" ; IAO:0000115 " Longitudinal, linear prominences in the nail plate." ; rdfs:comment "There may be only one, or several ridges. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001807 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a223995bdef3e8d6 a owl:Class ; rdfs:label "Frontal Bossing" ; IAO:0000115 " Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." ; oboInOwl:hasRelatedSynonym "Forehead, Bulging" ; rdfs:comment "This is not the same as Prominent forehead" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002007 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a3552875bb04a6e4 a owl:Class ; rdfs:label "Foot, Postaxial Polydactyly of" ; IAO:0000115 "Presence of a supernumerary digit that is not a hallux. " ; oboInOwl:hasExactSynonym "Posterior Polydactyly" ; oboInOwl:hasRelatedSynonym " Fibular Polydactyly", "Posterior Duplication of the Limb/Foot" ; rdfs:comment "Although it is appealing to believe in many cases that the supernumerary (non-hallux) digit is the most fibular, there may be no evidence for this. When the digit is de minimus, this seems reasonable by parsimony. When it is fully formed, associated with a supernumerary metatarsal, and fully functional, it may be impossible to determine which toe is supernumerary. Nevertheless, the designation as postaxial is reasonable given the tradition of this designation. Postaxial polydactyly has been divided into two types: A (a fully formed digit) and B (digitus minimus, or a pedunculated, non-articulating, non-functional appendage). We recognize these subtypes but note that post-axial polydactyly actually represents a spectrum from type A to type B. When the type is indeterminate, no subtype is specified. The term uses the word postaxial instead of the embryologic posterior because the former is established in clinical medicine." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100259 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a5201703ffd4c09f a owl:Class ; rdfs:label "Philtral Ridges, Malaligned" ; IAO:0000115 " Absence of the usual parallel position of philtral ridges." ; rdfs:comment "Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using the single term \"malaligned philtral ridges.\"" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011827 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a5293d97f7bfc31c a owl:Class ; rdfs:label "Vermilion, Upper Lip, Thin" ; IAO:0000115 "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. apparently reduced height of the vermilion of the upper lip in the frontal view." ; oboInOwl:hasRelatedSynonym " Thin Upper Lip", "Thin Vermilion Border" ; rdfs:comment "Normal values for the height of the vermilion are available [Farkas, [1981]], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, [2000]] (see Fig. 2 from Vermilion, Upper Lip, Thick). The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression (see Anatomy Section). On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000219 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a5abed7fd4057914 a owl:Class ; rdfs:label "Metacarpal, Short" ; IAO:0000115 " Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal." ; rdfs:comment "Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010049 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a6a2d57a281ead72 a owl:Class ; rdfs:label "Mouth, Wide" ; IAO:0000115 "Distance between the oral commissures more than 2 SD above the mean. apparently increased width of the oral aperture." ; oboInOwl:hasRelatedSynonym " Large Mouth", " Large Oral Aperture", "Macrostomia" ; rdfs:comment "The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000154 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a721679fe5a27645 a owl:Class ; rdfs:label "Face, Expressionless" ; IAO:0000115 " " ; rdfs:comment "This term, which is synonymous with dull expression or hypomimic face, is not defined here as it describes a functional not a structural feature (reduced facial movement leads to reduced crease formation)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000298 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a7571049e570041c a owl:Class ; rdfs:label "Nasal Bridge, Prominent" ; IAO:0000115 " Anterior positioning of the nasal root in comparison to the usual positioning for age." ; oboInOwl:hasExactSynonym "Nasal Bridge, High" ; rdfs:comment "A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism [Hall et al., [2009]]. If such findings are present these should be coded separately. Deep-set eyes [Hall et al., [2009]] may lead to the impression of a prominent nasal bridge, but this finding should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000426 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a7e46325a44dd469 a owl:Class ; rdfs:label "Nail Pits" ; IAO:0000115 " Small (typically about 1 mm or less in size) depressions on the dorsal nail surface." ; rdfs:comment "The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001803 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a89a2a6634946dc9 a owl:Class ; rdfs:label "Antihelix, Superior Crus, Prominent" ; IAO:0000115 " Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem (Fig. d,e)." ; oboInOwl:hasRelatedSynonym " Superior Crus of Antihelix, Hyperplastic", "Superior Crus of Antihelix, Hypertrophic" ; rdfs:comment "This finding is highly variable, and the range is illustrated in the figure to the right. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011247 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a9769c3dacf3fc83 a owl:Class ; rdfs:label "Nasal Tip, Narrow" ; IAO:0000115 "Decrease in width of the nasal tip. " ; oboInOwl:hasRelatedSynonym "Nasal Tip, Pinched" ; rdfs:comment "Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011832 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a98d48239172dc71 a owl:Class ; rdfs:label "Face, Round" ; IAO:0000115 " Facial appearance is more circular than usual, as viewed from the front." ; rdfs:comment "While a Broad face may have rounded cheeks, a Round face appears to be as long as it is broad." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000311 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:a9be81a22176edf4 a owl:Class ; rdfs:label "Finger, Ulnar Deviation of" ; IAO:0000115 " Angulation of the digit towards the posterior or postaxial axis (ulnar) of the limb." ; rdfs:comment "The deviation is at the MCPJ. The affected digits should be specified. This finding is independent of Clinodactyly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009465 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:aa1119dde9150482 a owl:Class ; rdfs:label "Cheeks, Sunken" ; IAO:0000115 " Lack or loss of the soft tissues between the zygomata and mandible." ; rdfs:comment "This appearance is found more often in edentulous patients." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009938 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:abb6065ac4f2f9d6 a owl:Class ; rdfs:label "Cupid's Bow, Exaggerated" ; IAO:0000115 " More pronounced paramedian peaks and median notch of the Cupid's bow." ; oboInOwl:hasExactSynonym "Cupid's Bow, Accentuated" ; oboInOwl:hasRelatedSynonym "Cupid's Bow (used without adjective)" ; rdfs:comment "This may be associated with a Deep philtrum, [Hennekam et al., [2009]] but that finding should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002263 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ac3e0cbecc22abdc a owl:Class ; rdfs:label "Antihelix, Angulated" ; IAO:0000115 " Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011236 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:acb283f1cdff9cc7 a owl:Class ; rdfs:label "Antihelix, Inferior Crus, Prominent" ; IAO:0000115 " Increased protrusion of the inferior crus relative to the prominence of the antihelix stem." ; oboInOwl:hasRelatedSynonym " Inferior Crus of Antihelix, Hypertrophic", "Inferior Crus of Antihelix, Hyperplastic" ; rdfs:comment "This finding is highly variable, and the range is illustrated in the figure to the right." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011238 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ada1c15be8b6ddc9 a owl:Class ; rdfs:label "Face, Hypotonic" ; IAO:0000115 " " ; rdfs:comment "This term is to be deleted as it is a functional, not anatomic, descriptor. Also, it is not a unitary objective finding and instead represents a conclusion based on a number of features that are defined elsewhere. These include reduced nasolabial folds, laxity and drooping of lateral supraorbital skin and ptosis, mouth held open and reduced facial expression." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000297 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ae1982ac8d052e9f a owl:Class ; rdfs:label "Nose, Narrow" ; IAO:0000115 "Interalar distance more than 2 SD below the mean for age. Apparently decreased width of the nasal base and alae." ; rdfs:comment "The nasal width is defined as the distance between the most lateral aspects of alae nasi. A narrow nose is often, but not necessarily, accompanied by a Narrow nasal base. It may also be accompanied by decreased thickness of the alae, narrow nares, or a narrow columella. The term narrow nose is also used by many to denote decreases in not only the interalar distance but also the nasal tip, ridge and bridge. As such it is a bundled term. We do not favor this more general use of the term and instead recommend describing the individual components." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000460 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ae27d9699faef13a a owl:Class ; rdfs:label "Shell Ear" ; IAO:0000115 " Absence of the superior antihelical crus, and broadening of the inferior antihelical crus, which runs more horizontally with a sharper \"take-off\" from the helix than usual." ; rdfs:comment "This is a bundled term, consisting of absence of the superior antihelical crus, broad inferior antihelical crus and abnormal orientation of the antihelix. As the term is much used in practice it is kept. In addition, the helix may show variable abnormalities of folding. The crus helix may be more protruding and extend further across the concha than usual." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0008569 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:aed43f2239e67718 a owl:Class ; rdfs:label "Foot, Narrow" ; IAO:0000115 "A foot for which the measured width is below the 5th centile for age. A foot that appears disproportionately narrow for its length." ; rdfs:comment "The normative data [Hall et al., [2007]] only include 4-16 year olds. Since the foot width is still increasing at the 16 year old age point on the graphs, extrapolation is not recommended. Therefore, persons more than 16 years or less than 4 years of age can only be assessed subjectively (until appropriate norms are identified or generated). Foot width should be measured from the medial aspect of the first MTPJ to the lateral aspect of the fifth MTPJ [Hall et al., [2007]]. It does not seem sensible to apply this term to individuals with polydactyly that includes a duplicated metatarsal." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001786 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:afddaffc36a1ecda a owl:Class ; rdfs:label "Jaw, Broad" ; IAO:0000115 "Bigonial distance (lower facial width) more than 2 SD above the mean. Apparently increased width of the lower jaw (mandible) when viewed from the front." ; oboInOwl:hasExactSynonym "Jaw, Wide", "Lower Face, Broad", "Lower Face, Wide", "Mandible, Broad", "Mandible, Wide" ; rdfs:comment "The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards [Farkas, [1981]]. When a broad jaw is accompanied by a broad upper face the term Square face is used." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012802 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b03dbc6169755a51 a owl:Class ; rdfs:label "Lop Ear" ; IAO:0000115 " Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha." ; rdfs:comment "Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000394 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b06081c45a5ba7a6 a owl:Class ; rdfs:label "Nail, Hyperconvex" ; IAO:0000115 "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. " ; rdfs:comment "No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001795 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b1145bac0932da43 a owl:Class ; rdfs:label "Eyelashes, Long" ; IAO:0000115 "Mid upper eyelash length >10 mm. Increased length of the eyelashes." ; oboInOwl:hasExactSynonym "Ciliary Trichomegaly" ; rdfs:comment "Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 ? 1.05 mm in boys and 7.76 ? 1.03 mm in girls [Pucci et al., [2005]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000527 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b1adb2541073344c a owl:Class ; rdfs:label "Widow's Peak" ; IAO:0000115 " Frontal hairline with bilateral arcs to a low point in the midline of the forehead." ; rdfs:comment "The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000349 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b1c6362251bad427 a owl:Class ; rdfs:label "Turricephaly" ; IAO:0000115 " Tall head relative to width and length." ; rdfs:comment "This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000262 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b28d6dc9c4232326 a owl:Class ; rdfs:label "Antihelix, Absent" ; IAO:0000115 "No discernible ridge between concha and triangular fossa, and helix. " ; rdfs:comment "This finding is common in a Protruding and Cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, Underdeveloped inferior crus of the antihelix." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011234 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b3939766d0196a62 a owl:Class ; rdfs:label "Eyebrow, Broad" ; IAO:0000115 " Regional increase in width of the eyebrow." ; oboInOwl:hasExactSynonym "Flared Eyebrow" ; rdfs:comment "Broadening or flaring can be medial or lateral, and the term may be modified by appending one of these words to the term. Flaring is used to describe a widening with a change in direction of the hairs constituting the eyebrow, but these terms are considered synonymous here." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011229 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b427f756518b51d3 a owl:Class ; rdfs:label "Naris, Supernumerary" ; IAO:0000115 "More than two nares. " ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009934 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b4494dfeaf33d120 a owl:Class ; rdfs:label "Antihelix, Stem, Prominent" ; IAO:0000115 " Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix (Fig. d,e)." ; oboInOwl:hasRelatedSynonym " Antihelix Stem, Hypertrophic", "Antihelix Stem, Hyperplastic" ; rdfs:comment "This finding is highly variable, and the range is illustrated in the figure to the right. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example a Cupped ear." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011240 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b4c5a697fbc5e871 a owl:Class ; rdfs:label "Gingival Overgrowth" ; IAO:0000115 " Thickening of the soft tissue overlying the alveolar ridge." ; oboInOwl:hasRelatedSynonym " Gingival Hyperplasia", "Gingival Hypertrophy" ; rdfs:comment "The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000212 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b6a544966c8a6f01 a owl:Class ; rdfs:label "Macrodactyly" ; IAO:0000115 " Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit." ; oboInOwl:hasRelatedSynonym " Pachydactyly", "Megalodactyly" ; rdfs:comment "There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0004099 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:b8258ffc2ff9d364 a owl:Class ; rdfs:label "Macrodontia" ; IAO:0000115 "Mesiodistal tooth diameter (width) more than 2 SD above mean for age. apparently increased maximum width of the tooth." ; rdfs:comment "The standard reference has means and standard deviations by gender [Moyers et al., [1976]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001572 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:babe3e4648eac88a a owl:Class ; rdfs:label "Brachycephaly" ; IAO:0000115 "Cephalic index greater than 81%. Apparently shortened anteroposterior dimension (length) of the head compared to width." ; rdfs:comment "Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000248 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:bc5eac0c32d427f2 a owl:Class ; rdfs:label "Chin Dimple" ; IAO:0000115 " A persistent midline depression of the skin over the fat pad of the chin." ; rdfs:comment "The borders of the depression are round." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010751 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:bcae562c3c8c1479 a owl:Class ; rdfs:label "Macrotia" ; IAO:0000115 "Median longitudinal ear length greater than 2 SD above the mean and median ear width greater than 2 SD above the mean. Apparently increase in length and width of the pinna." ; rdfs:comment "This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. Normal values are available from birth to 16 years of age [Feingold and Bossert, [1974]; Hall et al., [2007]] and birth to 18 years of age [Farkas, [1981]] specific for sex. If only length is increased the term Long ear should be used. Normal values for ear width are available [Farkas, [1981]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000400 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:bd8df1e279bc6598 a owl:Class ; rdfs:label "Finger, Tapered" ; IAO:0000115 " The gradual reduction in girth of the digit from proximal to distal." ; rdfs:comment "If the digits are not uniformly affected, the affected fingers should be specified. If not specified, it refers to all the digits of the hand." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001182 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:bdd6176a5718545e a owl:Class ; rdfs:label "Infra-Orbital Fold" ; IAO:0000115 " Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge." ; rdfs:comment "This excludes Epicanthus inversus. See Infra-orbital crease for a related term." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011232 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:be35bc739397ac19 a owl:Class ; rdfs:label "Toe, Tapered" ; IAO:0000115 " The gradual reduction in girth of the digit from proximal to distal." ; rdfs:comment "If the digits are not uniformly affected, they should be specified. If not specified, it refers to all the digits of the foot." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011309 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:be559f6b4bd52c20 a owl:Class ; rdfs:label "Occiput, Prominent" ; IAO:0000115 " Increased convexity of the occiput (posterior part of the skull)." ; rdfs:comment "Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000269 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:beaef3498526cf08 a owl:Class ; rdfs:label "Lobe, Cleft" ; IAO:0000115 "Discontinuity in the convexity of the inferior margin of the lobe. " ; oboInOwl:hasExactSynonym "Bifid Lobe", "Notched Lobe" ; rdfs:comment "The earlobe does not have a dependent portion." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011265 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:bf4c6aa27acd1ca7 a owl:Class ; rdfs:label "Tragus, Bifid" ; IAO:0000115 "Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. " ; oboInOwl:hasExactSynonym "Tragus, Notched" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011269 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:bf858e24ede407d7 a owl:Class ; rdfs:label "Digit Pad, Prominent" ; IAO:0000115 " A soft tissue prominence of the ventral aspects of the fingertips or toe tips." ; oboInOwl:hasExactSynonym "Fetal Finger/Toe Tip Pads" ; oboInOwl:hasRelatedSynonym "Persistent Fetal Pads" ; rdfs:comment "The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym \"fetal fingertip pads \"should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term \"Persistent fetal pads\" as this term implies knowledge of the natural history of this finding, which may or may not be known." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011298 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c06630515fcd3211 a owl:Class ; rdfs:label "Mandible, Cleft" ; IAO:0000115 "Midline deficiency of the mandible and some or all overlying tissues. " ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010752 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c0ed778382dbe2bc a owl:Class ; rdfs:label "Antihelix, Inferior Crus, Underdeveloped" ; IAO:0000115 " Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem." ; oboInOwl:hasRelatedSynonym " Inferior Crus of Antihelix, Hypoplastic", "Inferior Crus of Antihelix, Hypotrophic" ; rdfs:comment "This finding is highly variable." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011239 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c1129f687f9243b5 a owl:Class ; rdfs:label "Ala Nasi, Underdeveloped" ; IAO:0000115 " Thinned, deficient, or excessively arched ala." ; oboInOwl:hasRelatedSynonym "Ala Nasi, Hypoplastic" ; rdfs:comment "The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000430 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c1c1c4d708172d57 a owl:Class ; rdfs:label "Tooth, Natal" ; IAO:0000115 "Erupted tooth or teeth at birth. " ; rdfs:comment "This is not to be confused with apical dental cysts. Natal teeth most often involve lower central incisors, less often upper central incisors, and rarely first primary molars. Natal teeth occur about once in 3,000 births and are particularly common among some native (First Nation) groups of North America [Mok and Suina, [1986]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000695 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c268f54e3f240d68 a owl:Class ; rdfs:label "Helix, Crus, Underdeveloped" ; IAO:0000115 " Flatter and/or shorter crus helix than average (Fig. a)." ; oboInOwl:hasRelatedSynonym " Hypotrophy Crus Helix", "Hypoplastic Crus Helix" ; rdfs:comment "This finding is highly variable, and the range is illustrated in the figure to the right. There appears to be a correlation between the length of the crus helix and its relative prominence." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009898 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c43a1d5ac6da32f0 a owl:Class ; rdfs:label "Nasal Tip, Deviated" ; IAO:0000115 " Nasal tip positioned to one side of the midline." ; rdfs:comment "There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011831 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c509fa22bdbdd8e0 a owl:Class ; rdfs:label "Eyelashes, Sparse" ; IAO:0000115 " Decreased density/number of eyelashes." ; oboInOwl:hasExactSynonym "Hypotrichosis of Eyelashes" ; rdfs:comment "Sometimes Sparse eyelashes are abnormally formed eyelashes. The sparseness may be limited to one portion of the eyelid. We know of no normative data for Sparse eyelashes." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000653 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c51cb3ba3cc2bb3d a owl:Class ; rdfs:label "Hair Whorl, Abnormal Number" ; IAO:0000115 "More than two clockwise hair whorls. " ; rdfs:comment "Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010813 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c5a9458d1caa7ef5 a owl:Class ; rdfs:label "Frontal Balding" ; IAO:0000115 " Absence of hair in the anterior midline and/or parietal areas." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002292 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c60d08796de119ca a owl:Class ; rdfs:label "Helix, Crus, Expanded Terminal Portion" ; IAO:0000115 " Widening, rather than tapering, of the crus at its posterior border near the antihelix." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011259 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c70eafe652dbba67 a owl:Class ; rdfs:label "Fingers, Cutaneous Syndactyly of" ; IAO:0000115 "A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the PIPJ. A soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers." ; oboInOwl:hasRelatedSynonym " Zygodactyly", "Syndactyly (without adjective)" ; rdfs:comment "We have set an arguably arbitrary threshold to distinguish the objective from the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of \"complete\" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term \"syndactyly\" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012725 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c75e63fd749ec7a8 a owl:Class ; rdfs:label "Neck, Short" ; IAO:0000115 "Decreased distance from the point where neck and shoulders meet to the inferior margin of the occipital bone. " ; rdfs:comment "No objective measure is available." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000470 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c77d436cbcfcdd63 a owl:Class ; rdfs:label "Nose, Absent" ; IAO:0000115 "Complete absence of all nasal structures. " ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009927 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c7d8fcc2cb918096 a owl:Class ; rdfs:label "Finger, Broad" ; IAO:0000115 " Increased width of a non-thumb digit of the hand." ; oboInOwl:hasExactSynonym "Wide Fingers" ; oboInOwl:hasRelatedSynonym " Thick Fingers", "Pachydactyly" ; rdfs:comment "Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify \"Broad fingers, F1-5\" instead of separately specifying \"Broad thumb\" and \"Broad fingers F2-5.\"" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001500 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c86a7dfe73086e4e a owl:Class ; rdfs:label "Supraorbital Ridges, Underdeveloped" ; IAO:0000115 " Flatness of the supraorbital portion of the frontal bones." ; oboInOwl:hasExactSynonym "Brows, Underdeveloped", "Supraorbital Ridges, Flattened", "Supraorbital Ridges, Hypoplastic" ; oboInOwl:hasRelatedSynonym " Brows, Underdeveloped", "Supraorbital Ridges, Hypoplastic" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009891 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:c8fe0ea0a0e1e73c a owl:Class ; rdfs:label "Eyebrow, Laterally Extended" ; IAO:0000115 " An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location." ; rdfs:comment "The degree of extension beyond the orbital rim considered abnormal has not been established. This feature is also uncommon." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011230 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:cc6b29537c6216fb a owl:Class ; rdfs:label "Columella, Low Insertion" ; IAO:0000115 "Insertion of the posterior columella below the nasal base. " ; rdfs:comment "This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010764 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:cd41e85adeef0480 a owl:Class ; rdfs:label "Tragus, Duplicated" ; IAO:0000115 "A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus (Fig. b). " ; oboInOwl:hasExactSynonym "Accessory Tragus" ; rdfs:comment "It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011270 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:cebcbf647380bc37 a owl:Class ; rdfs:label "Hand, Split" ; IAO:0000115 " Longitudinal deficiency of a digital ray of the hand except rays 1 or 5." ; oboInOwl:hasExactSynonym "Cleft Hand" ; oboInOwl:hasRelatedSynonym " Lobster Claw Deformity", "Ectrodactyly" ; rdfs:comment "The threshold for this deficiency should be that all of the phalanges of a central ray (not F1 or F5) are absent and at least part of the associated metacarpal (if it is just the phalanges that are missing, this should be coded as Absent finger). The absence of a central ray or rays frequently yields a cleft appearance of the hand. This term is preferred to ectrodactyly of the hand as this has been used (more appropriately) for forms of phalangeal hypoplasia or amputation but it is acknowledged that this is a commonly used term. Lobster claw deformity is neither descriptive nor acceptable due to its pejorative nature. There is wide variation in the hands of affected individuals, but the common factor seems to be the absence of the central ray, justifying the use of Split hand as a clinical designation." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001171 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:cf3eb35245d52feb a owl:Class ; rdfs:label "Prognathism" ; IAO:0000115 " Anterior protrusion of the mandibular alveolar ridge beyond the vertical plane of the maxillary alveolar ridge, best appreciated in profile." ; oboInOwl:hasExactSynonym "Habsburg/Hapsburg Chin", "Habsburg/Hapsburg Jaw", "Prognathia" ; oboInOwl:hasRelatedSynonym " Habsburg Jaw", " Hapsburg Chin", " Hapsburg Jaw", "Habsburg Chin" ; rdfs:comment "The examiner must use judgment to distinguish a protruding mandible from an Underdeveloped premaxilla or Retruded midface, either of which may be accompanied by class III malocclusion." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000303 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:cffbc3de49dbb172 a owl:Class ; rdfs:label "Question Mark Ear" ; IAO:0000115 " Cleft between the helix and the lobe." ; oboInOwl:hasExactSynonym "Constricted Ear", "Cosman Ear" ; rdfs:comment "Relatively few cases have been reported [Priolo et al., [2000]]. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030022 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d0afa3f330b8884b a owl:Class ; rdfs:label "Toe, Absent" ; IAO:0000115 "The absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. " ; oboInOwl:hasExactSynonym "Oligodactyly" ; oboInOwl:hasRelatedSynonym "Hypodactyly" ; rdfs:comment "Note that this descriptor does not require absence of the metatarsal. The affected digits should be specified, although this may be difficult. In the latter case, the specified term should be Absent toe, right foot (with the identity of the missing toe not specified). This definition excludes Partial absence of the toe. This absent toe definition excludes Absent hallux because it is usually obvious if the missing digit is a hallux. It may be difficult to distinguish an absent toe from two digits with an extreme degree of osseous and cutaneous syndactyly. If all digits are missing, the term Adactyly should be used. The term Oligodactyly may be used as a synonym, but only in situations where the missing digit is not specified. For example, to state that a patient has Oligodactyly F5 is incorrect because the oligodactyly refers to the digits that are present and the F5 refers to the digit that is absent. This is awkward and could be confused with higher order deficiencies." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010760 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d1fbc39bb2a7200c a owl:Class ; rdfs:label "Nasal Ridge, Concave" ; IAO:0000115 "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. " ; oboInOwl:hasRelatedSynonym " Ski Jump Nose", "Saddle Nose" ; rdfs:comment "Note the difference from Depressed nasal bridge." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011120 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d27c0d21215c8bd9 a owl:Class ; rdfs:label "Antihelix, Additional Crus" ; IAO:0000115 "Supernumerary ridge or crus of the ear arising from the antihelix. " ; rdfs:comment "The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation, but may have a different origin. In the former case, the finding is termed Stahl ear [Yamada and Fukuda, [1980]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011235 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d412486c2b3e365a a owl:Class ; rdfs:label "Tongue, Protruding" ; IAO:0000115 " Tongue extending beyond the alveolar ridges or teeth at rest." ; rdfs:comment "Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010808 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d60a47d140aab2a8 a owl:Class ; rdfs:label "Palm, Narrow" ; IAO:0000115 "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile. The width of the palm appears disproportionately narrow for its length." ; oboInOwl:hasRelatedSynonym "Narrow Hand" ; rdfs:comment "Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in Hall et al. [2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces narrow hands as that term may leave the impression that it includes the thumb, which it does not." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0004283 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d623f0a16c6be5cd a owl:Class ; rdfs:label "Helix, Underfolded" ; IAO:0000115 " Underdevelopment of the helix that either affects the entire helix, or is localized." ; oboInOwl:hasRelatedSynonym "Ear, Dog-bite" ; rdfs:comment "Helix folding is highly variable, and the range is illustrated in the Figures 2 and 3 from Helix, Cleft. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0008577 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d63325b1b95d9849 a owl:Class ; rdfs:label "Nasal Ridge, Depressed" ; IAO:0000115 " Posteriorly-placed nasal ridge." ; oboInOwl:hasExactSynonym "Nasal Ridge, Recessed", "Nasal Ridge, Retruded" ; oboInOwl:hasRelatedSynonym "Nose, Flat" ; rdfs:comment "The adjective \"depressed\" here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000457 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d6757353cb04ed9e a owl:Class ; rdfs:label "Infra-Orbital Crease" ; IAO:0000115 " Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma." ; rdfs:comment "This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but this should be described separately. See Infra-orbital fold for a related term." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0100876 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d6850b6df27359e2 a owl:Class ; rdfs:label "Ear, Posterior Angulation, Increased" ; IAO:0000115 "Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than 2 SD above the mean for age. " ; oboInOwl:hasExactSynonym "Ear, Posteriorly Rotated" ; rdfs:comment "Normal values are available [Farkas, [1981]; Hall et al., [2007]]. The mean angle is near 20? used the Frankfurt plane is compromised if the ear is also low-set. Subjective assessment of ear rotation is unacceptable because it is unreliable and often confounded by changes in head position. Abnormalities of ear shape may make it difficult to reliably determine the medial longitudinal axis of the ear. In such cases, it is probably unwise to make an assessment of the rotational status of the ear." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000358 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d704aa52d376aaa5 a owl:Class ; rdfs:label "Metopic Depression" ; IAO:0000115 " Linear vertical groove in the midline of the forehead, extending from hairline to glabella." ; rdfs:comment "There is no underlying bony defect (metopism)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011223 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d7284223e790d7aa a owl:Class ; rdfs:label "Nares, Anteverted" ; IAO:0000115 " Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." ; oboInOwl:hasExactSynonym "Nasal Tip, Upturned" ; oboInOwl:hasRelatedSynonym "Pug Nose" ; rdfs:comment "The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000463 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d7fcae8f3276b13a a owl:Class ; rdfs:label "Vermilion, Upper Lip, Tented" ; IAO:0000115 " Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." ; oboInOwl:hasRelatedSynonym "Tented Mouth" ; rdfs:comment "This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010804 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d862798b5055800d a owl:Class ; rdfs:label "Epicanthus Inversus" ; IAO:0000115 " A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus." ; rdfs:comment "For additional information on this finding, see [Oley and Baraitser, [1988]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000537 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:d9938e4ead4ace7c a owl:Class ; rdfs:label "Hair, Frontal Upsweep" ; IAO:0000115 " Upward and/or sideward growth of anterior hair." ; oboInOwl:hasExactSynonym "Cowlick" ; oboInOwl:hasRelatedSynonym "Cowlick, which may be considered pejorative." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002236 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:daeb9fb85b0b970f a owl:Class ; rdfs:label "Nose, Short" ; IAO:0000115 "Distance from nasion to subnasale more than two standard deviations below the mean. Apparently decreased length from the nasal root to the nasal tip." ; oboInOwl:hasRelatedSynonym "Nose, Small (a small nose both has a decreased height and a decreased width)" ; rdfs:comment "Normal values for length are available [Zankl et al., [2002]; Hall et al., [2007]]. The length of the nose usually shows a relation with the length of the philtrum. The nose and philtrum together occupy the central face zone; a change of length of one will usually be accompanied by a compensatory, opposite change in the length of the other. The nasion may be difficult to determine, in which case only the subjective assessment can be made. Sometimes a nose is well within normal limits in length when measured (objectively) but still appears small (subjectively) due to a large (mid)facial length. The infant's nose usually appears shorter in relation to facial length than does that of the adult. The nose continues to grow throughout life, contributing in adulthood to increases in length of the nasal ridge but not necessarily of the nasal length. There are no normal adult standards to determine this." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0003196 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:db6ea87e74a51c8a a owl:Class ; rdfs:label "Palate, Hard, Short" ; IAO:0000115 "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean. apparently decreased length of the hard palate." ; oboInOwl:hasRelatedSynonym " Hypoplastic Palate", "Short Palate" ; rdfs:comment "Objective measurement of the hard palate requires special instrumentation [Hall et al., [2006]]. A short hard palate may be associated with velopharyngeal incompetence." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010290 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:dbaf4cd806daeacb a owl:Class ; rdfs:label "Mouth, Narrow" ; IAO:0000115 "Distance between the commissures more than 2 SD below the mean. apparently decreased width of the oral aperture." ; oboInOwl:hasRelatedSynonym " Small Mouth", " Small Oral Aperture", "Microstomia" ; rdfs:comment "The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000160 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ddc1a2c7e23644e8 a owl:Class ; rdfs:label "Glossoptosis" ; IAO:0000115 " Posterior displacement of the tongue into the pharynx." ; rdfs:comment "Presumably, use of the suffix \"ptosis\" refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates \"falling\" of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000162 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ddce48fcd9ee46f4 a owl:Class ; rdfs:label "Helix, Squared Superior Portion" ; IAO:0000115 " Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual." ; rdfs:comment "This is not to be confused with Lop ear or Satyr ear and may represent an underdevelopment of the upper third of the pinna. This is usually associated with a short ascending helix." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030026 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:de4b544c7ed3ad26 a owl:Class ; rdfs:label "Palmar Crease, Single Transverse" ; IAO:0000115 "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. " ; oboInOwl:hasRelatedSynonym "Simian Crease" ; rdfs:comment "The term five finger crease for the proximal transverse crease is sourced from [Hall et al., [2007]]. The subtypes of single transverse palmar crease are not recognized here [Hook et al., [1974]]. Replaces the term Simian crease as that term is disparaging and less descriptive." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000954 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:de4e86bf37f3bbf1 a owl:Class ; rdfs:label "Palatine Ridges, Prominent" ; IAO:0000115 " Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge." ; oboInOwl:hasExactSynonym "Prominent Lateral Palatal Ridges", "Prominent Palatine Folds" ; rdfs:comment "Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010291 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:dec367cb72e7cf0b a owl:Class ; rdfs:label "Eyelid, Cleft" ; IAO:0000115 " A short discontinuity of the margin of the lower or upper eyelid." ; oboInOwl:hasExactSynonym "Eyelid, Notched" ; oboInOwl:hasRelatedSynonym "Eyelid Coloboma" ; rdfs:comment "The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term \"eyelid coloboma\" has been replaced because the word \"coloboma\" should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as \"lower\" and \"lateral.\"" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000625 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e09c1185a1ef3e38 a owl:Class ; rdfs:label "Dolichocephaly" ; IAO:0000115 "Cephalic index less than 76%. Apparently increased antero-posterior length of the head compared to width." ; rdfs:comment "Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000268 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e19b32be420aa391 a owl:Class ; rdfs:label "Face, Flat" ; IAO:0000115 " Absence of concavity or convexity of the face when viewed in profile." ; rdfs:comment "A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012368 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e1d4dca781e37b29 a owl:Class ; rdfs:label "Antitragus, Everted" ; IAO:0000115 "Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear). " ; rdfs:comment "This is a common feature." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011248 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e1d74175c310388d a owl:Class ; rdfs:label "Philtrum, Long" ; IAO:0000115 "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Apparently increased distance between nasal base and midline upper lip vermilion border." ; rdfs:comment "The length of the philtrum usually shows a relation with the length of the nose. The philtrum and nose together occupy the central face zone; a change of length of one will usually be accompanied by a compensatory, opposite change in the length of the other. Therefore a long philtrum often accompanies a Short nose, but this is not always the case and should be assessed and coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000343 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e271e640309491ed a owl:Class ; rdfs:label "Central Incisor, Single Maxillary" ; IAO:0000115 "Presence of one maxillary central incisor positioned in the midline. " ; rdfs:comment "If a single maxillary central incisor is present but not positioned in the midline, this could be hypodontia (see Ologodontia), but this cannot be evaluated without a radiograph." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0006315 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e27b1d4633855d08 a owl:Class ; rdfs:label "Forehead, Broad" ; IAO:0000115 "Width of the forehead or distance between the frontotemporales is more than 2 SD above the mean. Apparently increased distance between the two sides of the forehead." ; oboInOwl:hasExactSynonym "Forehead, Wide" ; rdfs:comment "Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow [Farkas, [1981]]. This term should not be confused with Prominent forehead." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000337 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e29866db35162165 a owl:Class ; rdfs:label "Nasal Bridge, Wide" ; IAO:0000115 " Increased breadth of the nasal bridge." ; oboInOwl:hasExactSynonym "Nasal Bridge, Broad" ; rdfs:comment "Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism [Hall et al., [2009]] (Fig. 2). A wide nasal bridge can be either prominent or depressed, which should be coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000431 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e299d2c863f5b5ec a owl:Class ; rdfs:label "Antihelix, Stem, Underdeveloped" ; IAO:0000115 " Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix (Fig. a,b)." ; oboInOwl:hasRelatedSynonym " Antihelix Stem, Hypoplastic", "Antihelix Stem, Hypotrophic" ; rdfs:comment "This finding is highly variable, and the range is illustrated in the figure to the right. The degree of prominence is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, for example a Cupped ear." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011242 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e2dc697e402380a8 a owl:Class ; rdfs:label "Camptodactyly" ; IAO:0000115 " The DIPJ and/or PIPJ of the fingers cannot be extended to 180? by either active or passive extension." ; oboInOwl:hasRelatedSynonym "Streblodactyly" ; rdfs:comment "Note that some restrict the use of the term to inability to extend the PIP joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy [Ozonoff, [1992]]. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012385 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e46e4f358187a32a a owl:Class ; rdfs:label "Eyebrow, Sparse" ; IAO:0000115 " Decreased density/number and/or decreased diameter of eyebrow hairs." ; oboInOwl:hasExactSynonym "Hypotrichosis of the Eyebrow" ; rdfs:comment "Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000535 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e4f7eb8e1c23a1c8 a owl:Class ; rdfs:label "Nasal Ridge, Wide" ; IAO:0000115 "Increased width of the nasal ridge. " ; oboInOwl:hasExactSynonym "Nasal Ridge, Broad" ; rdfs:comment "This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012811 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e6ac74e7bedf0e51 a owl:Class ; rdfs:label "Vermilion, Upper Lip, Thick" ; IAO:0000115 "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean (Fig. 1). apparently increased height of the vermilion of the upper lip in the frontal view." ; oboInOwl:hasRelatedSynonym " Full Lip", " Thick Lip", "Coarse Lip" ; rdfs:comment "Normal values for the height of the vermilion are available [Farkas, [1981]], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 2). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000215 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e801e8c7a523ec7f a owl:Class ; rdfs:label "Tongue, Small" ; IAO:0000115 " Decreased length and width of the tongue." ; oboInOwl:hasExactSynonym "Hypoglossia", "Microglossia", "Rudimentary Tongue" ; oboInOwl:hasRelatedSynonym " Hypoplastic Tongue", " Hypotrophic Tongue", "Aglossia" ; rdfs:comment "Normal standards do not exist. The term \"aglossia\" is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000171 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e97d55e4fb28e608 a owl:Class ; rdfs:label "Thumb, Broad" ; IAO:0000115 " Increased thumb width without increased dorso-ventral dimension." ; oboInOwl:hasExactSynonym "Broad Pollex", "Wide Thumb" ; rdfs:comment "There is substantial variability in thumb width and it may be difficult to determine the threshold for this finding. As it is commonly bilateral, comparing to the contralateral digit will not be helpful. Some have suggested using a definition of thumb width measured at the IP joint of >1.5X the width of the index finger measured at the DIPJ, but no data to support this are available. Note that this term should not be used for thumbs that meet the definition for Macrodactyly. There is a standard for thumb width at birth of 9.8 ± 0.5 mm (1 SD) (see Saul et al. [1998], p 45), but this is not widely used and does not take into account gestational age, or a body who is small for gestational age. The assessment is difficult when the thumb is short." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011304 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:e9f6483380074c12 a owl:Class ; rdfs:label "Helix, Posterior Pit" ; IAO:0000115 "Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. " ; oboInOwl:hasRelatedSynonym " Ear, Posterior Helical Notch", "Ear, Posterior Helical Groove" ; rdfs:comment "They are usually linear to a narrow oval in shape and may be single or multiple [Prescott and Hennekam, [2007]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0008523 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ea8a7c2160a20741 a owl:Class ; rdfs:label "Chin, Horizontal Crease" ; IAO:0000115 " Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011823 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ebc67f029da3caac a owl:Class ; rdfs:label "Fingers, Splayed" ; IAO:0000115 " Divergence of digits along the A/P axis (in the plane of the palm)." ; oboInOwl:hasExactSynonym "Spreading of the Fingers" ; rdfs:comment "This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0030029 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ec0d200ae22ef2dc a owl:Class ; rdfs:label "Vermilion, Lower Lip, Thick" ; IAO:0000115 "Height of the vermilion of the lower lip in the midline more than 2 SD above the mean. apparently increased height of the vermilion of the lower lip in the frontal view." ; oboInOwl:hasRelatedSynonym " Full Lower Lip", "Thick Lower Lip" ; rdfs:comment "Normal values for the height of the vermilion are available [Farkas, [1981]] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000179 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ec8693737e10d7ab a owl:Class ; rdfs:label "Mouth, Upturned Corners of" ; IAO:0000115 " Oral commissures positioned superior to the midline labial fissure." ; rdfs:comment "This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010805 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:edd8027f8704eb10 a owl:Class ; rdfs:label "Paranasal Tissue, Fullness" ; IAO:0000115 " Increased bulk of tissue alongside the nose." ; oboInOwl:hasRelatedSynonym "Laterally Built Up Nose" ; rdfs:comment "The fullness can be caused by both bony and soft tissues. This is distinct from Wide nasal ridge and Wide nasal bridge." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012812 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:ee92e98f413cf56f a owl:Class ; rdfs:label "Nasal Tip, Depressed" ; IAO:0000115 " Decreased distance from the nasal tip to the nasal base." ; oboInOwl:hasExactSynonym "Nasal Tip, Recessed", "Nasal Tip, Retruded" ; rdfs:comment "This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000437 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:eeb336af09f96ae8 a owl:Class ; rdfs:label "Thumb, Triphalangeal" ; IAO:0000115 "A thumb with three phalanges in a single, proximo-distal axis. " ; oboInOwl:hasRelatedSynonym " Finger-like Thumb", "Digitalized Thumb" ; rdfs:comment "The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001199 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:eed352567d1bb49d a owl:Class ; rdfs:label "Microtia, First Degree" ; IAO:0000115 "Presence of all the normal ear components and the median longitudinal length more than 2 SD below the mean. " ; rdfs:comment "The definitions of microtia below follow a widely used, surgically based, classification of ear anomalies outlined by Weerda [1988]. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. See Short ear for a discussion of altered ear length. A better assessment of size would include both length and width (i.e., an estimate of surface area). Normal values for width and length measurements are available [Farkas, [1981]; Hall et al., [2007]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011266 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:efe02d35c10721b6 a owl:Class ; rdfs:label "Hairline, Low Posterior" ; IAO:0000115 " Hair on the neck extends more inferiorly than usual." ; rdfs:comment "This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0002162 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f103f00fcb26b7c4 a owl:Class ; rdfs:label "Palpebral Fissure, Upslanted" ; IAO:0000115 "The palpebral fissure inclination is more than 2 SD above the mean for age. The inclination of the palpebral fissure is greater than typical for age." ; oboInOwl:hasRelatedSynonym "Mongoloid Slant" ; rdfs:comment "The slant, or inclination, of the palpebral fissure is defined as the angle formed by two lines: an imaginary line that connects the lateral canthus and the medial canthus of each eye, and an imaginary horizontal line formed by the two medial canthi when the patient holds their head with the facial midline vertical, the head in a neutral vertical position (neither flexed nor extended) and the gaze forward [Farkas, [1994]]. Palpebral fissure inclination norms are specified in Farkas [1994] for Caucasians (pg. 283) and for Chinese and African-American populations (limited data, pgs 342, and 349, respectively). Hall et al. [2007] only specifies norms for Caucasians between 6 and 16 years of age. Upslanted palpebral fissures may be associated with microcephaly, but this should be coded separately. Some features (e.g., Ptosis or Epicanthus) may hinder palpebral fissure inclination assessment." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000582 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f14f2e7a99834f46 a owl:Class ; rdfs:label "Eyelashes, Prominent" ; IAO:0000115 " Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly." ; rdfs:comment "This is admittedly a bundled term, but it may be useful in clinical practice." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011231 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f273ff393ebab6af a owl:Class ; rdfs:label "Tongue, Lobulated" ; IAO:0000115 " Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." ; rdfs:comment "Lobulated tongue can bilobed, trilobed, or show multiple lobes." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000180 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f2efe99ef01febfd a owl:Class ; rdfs:label "Microtia, Third Degree" ; IAO:0000115 "Presence of some auricular structures, but none of these structures conform to recognized ear components. " ; oboInOwl:hasRelatedSynonym " Ear, Hypoplastic, Group II", " Ear, Peanut", "Ear, Grade III Dysplasia" ; rdfs:comment "The definitions of microtia below follow a widely used, surgically based, classification of ear anomalies outlined by Weerda [1988]. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011267 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f30ee27c0feba333 a owl:Class ; rdfs:label "Palmar Creases, Decreased" ; IAO:0000115 " Poorly defined or shallow palmar creases." ; oboInOwl:hasRelatedSynonym "Smooth Palms" ; rdfs:comment "This is a completely subjective term, requiring an experienced observer to distinguish this finding from common variation in creases. It refers to an overall diminution of the creases, not to diminution of a subset of the creases." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0006184 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f3795f87c4abb99d a owl:Class ; rdfs:label "Hair Whorl, Abnormal Position" ; IAO:0000115 "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. " ; oboInOwl:hasExactSynonym "Crown, Double" ; rdfs:comment "Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010814 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f3a0d2fb178105d7 a owl:Class ; rdfs:label "Teeth, Fused" ; IAO:0000115 " " ; rdfs:comment "Dental fusion or double tooth (the joining of teeth with separate roots) can only be distinguished from gemination (bifid crown, where only one pulp chamber or root canal is present), with radiographic evidence [Cameron and Widmer, [2003]]. Therefore this term is not defined here." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011090 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f635aa5bd991cae4 a owl:Class ; rdfs:label "Hairline, High Anterior" ; IAO:0000115 "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Apparently increased distance between the hairline and the glabella." ; oboInOwl:hasExactSynonym "Forehead, High", "Forehead, Tall" ; rdfs:comment "This measurement is carried out with sliding calipers [Farkas, [1981]]. This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009890 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f69882f3e0ffe9df a owl:Class ; rdfs:label "Palm, Broad" ; IAO:0000115 "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile. The width of the palm appears disproportionately wide for the length." ; oboInOwl:hasExactSynonym "Wide Palm" ; rdfs:comment "Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., [2007]]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al. [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ)." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001169 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f722c00da95750c1 a owl:Class ; rdfs:label "Nail Narrow" ; IAO:0000115 "Decreased width of nail. " ; rdfs:comment "Standards for newborns were identified [Seaborg and Bodurtha, [1989]] but none were identified for older persons. Therefore, for newborns, this could be objective, but this is rarely measured. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011313 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f7972400d0eb84c1 a owl:Class ; rdfs:label "Nail, Split" ; IAO:0000115 " A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature." ; rdfs:comment "This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001809 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f80f8a26dad490c9 a owl:Class ; rdfs:label "Ear, Cupped" ; IAO:0000115 " Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." ; oboInOwl:hasRelatedSynonym "Ear, Capuchin" ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000378 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f8b4e50bbfc985ab a owl:Class ; rdfs:label "Microtia, Second Degree" ; IAO:0000115 " Median longitudinal length of the ear more than 2 SD below the mean in the presence of some, but not all, parts of the normal ear." ; oboInOwl:hasRelatedSynonym " Ear, Cockleshell", " Ear, Constricted Helix Type IV", " Ear, Cupped Severe, Type III", " Ear, Mini", " Ear, Shell", " Ear, Snail", "Ear, Grade II Dysplasia" ; rdfs:comment "The definitions of microtia below follow a widely used, surgically based, classification of ear anomalies outlined by Weerda [1988]. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0008569 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f917e05590a87735 a owl:Class ; rdfs:label "Antitragus, Underdeveloped" ; IAO:0000115 " Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." ; oboInOwl:hasExactSynonym "Antitragus, Small" ; oboInOwl:hasRelatedSynonym " Antitragus, Hypotrophic", "Antitragus, Hypoplastic" ; rdfs:comment "This finding is highly variable, and the range is illustrated in the figures from Antitragus, Prominent and Antitragus, Absent." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011251 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:f970afa16e397ece a owl:Class ; rdfs:label "Tag, Preauricular" ; IAO:0000115 "Small non-cartilaginous protrusion anterior to the insertion of the ear. " ; rdfs:comment "The location of these tags is the plane of fusion of the first branchial cleft [Wood-Jones and I-Chuan, [1933]]. At times it can be a challenge to distinguish other pedunculated lesions in this area; specifically duplications of ear components, Pretragal ectopias, or a striated muscle hamartoma. Preauricular tags usually lack hair, are limited to the plane of fusion, and do not contain striated muscle." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000384 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:fac6ce2544250dd2 a owl:Class ; rdfs:label "Antihelix, Inferior Crus, Broad" ; IAO:0000115 " Increased width of the inferred cross-section of the inferior crus." ; rdfs:comment "This finding is highly variable, and the range is illustrated in Figure 8. The inferior crus is usually sharply folded giving a narrow profile." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011237 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:fb854d4a5b04957d a owl:Class ; rdfs:label "Teeth, Widely Spaced" ; IAO:0000115 " Increased spaces (diastemata) between most of the teeth in the same dental arch." ; oboInOwl:hasExactSynonym "Multiple Diastemata" ; rdfs:comment "Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0000687 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:fbe9aaa78f2f4e2d a owl:Class ; rdfs:label "Lobe, Large" ; IAO:0000115 " Increased volume of the earlobe (Fig. d,e)." ; oboInOwl:hasRelatedSynonym " Fleshy Lobe", " Hypertrophic Lobe", "Hyperplastic Lobe" ; rdfs:comment "All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable, and the range is illustrated to the right. Lobe size increases throughout adulthood [Ferrario et al., [1999]; Itoh et al., [2001]]." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0009748 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:fc20192af0b38fd3 a owl:Class ; rdfs:label "Lacrimal Punctum, Ectopic" ; IAO:0000115 " Positioning of a lacrimal punctum other than at the medial margins of the eyelid." ; rdfs:comment "The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010748 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:fc319ee78ad21973 a owl:Class ; rdfs:label "Face, Prematurely Aged" ; IAO:0000115 " " ; rdfs:comment "This term is to be deleted as it represents a conclusion based on a number of features, such as thin skin, more prominent subcutaneous venous patterning, lack of subcutaneous fat, excessive wrinkles, and pigmentary changes, that are defined elsewhere." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0007495 ; foaf:depiction ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:fc8449da66ac70e5 a owl:Class ; rdfs:label "Nasal Base, Narrow" ; IAO:0000115 " Decreased distance between the attachments of the alae nasi to the face." ; rdfs:comment "There is a marked difference in width of the nasal base depending on ethnic background." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0012809 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:fd375d522da9b13c a owl:Class ; rdfs:label "Metatarsal, Short" ; IAO:0000115 " Diminished length of a metatarsal, with resultant proximal displacement of the associated toe." ; rdfs:comment "This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0010743 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:fe5bb5fb9c920cdf a owl:Class ; rdfs:label "Hand, Ulnar Deviation of" ; IAO:0000115 " Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction." ; oboInOwl:hasRelatedSynonym " Clubhand", "Ulnar Clubhand" ; rdfs:comment "May be associated with a short or absent ulna, but that is not required." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0001193 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . EOM:feaa28318b6de5ad a owl:Class ; rdfs:label "Helix, Darwin Notch" ; IAO:0000115 "Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix (Fig. b). " ; rdfs:comment "Defects at other points along the helix are coded as Cleft helix." ; rdfs:subClassOf biolink:PhenotypicFeature ; owl:equivalentClass HP:0011260 ; foaf:depiction , ; foaf:page ; biolink:category biolink:PhenotypicFeature . a owl:AnnotationProperty . a owl:AnnotationProperty . HP:0000154 a owl:Class . HP:0000158 a owl:Class . HP:0000160 a owl:Class . HP:0000162 a owl:Class . HP:0000171 a owl:Class . HP:0000176 a owl:Class . HP:0000179 a owl:Class . HP:0000180 a owl:Class . HP:0000189 a owl:Class . HP:0000191 a owl:Class . HP:0000193 a owl:Class . HP:0000212 a owl:Class . HP:0000215 a owl:Class . HP:0000218 a owl:Class . HP:0000219 a owl:Class . HP:0000221 a owl:Class . HP:0000232 a owl:Class . HP:0000243 a owl:Class . HP:0000248 a owl:Class . HP:0000252 a owl:Class . HP:0000256 a owl:Class . HP:0000262 a owl:Class . HP:0000268 a owl:Class . HP:0000269 a owl:Class . HP:0000272 a owl:Class . HP:0000274 a owl:Class . HP:0000275 a owl:Class . HP:0000276 a owl:Class . HP:0000278 a owl:Class . HP:0000280 a owl:Class . HP:0000283 a owl:Class . HP:0000286 a owl:Class . HP:0000289 a owl:Class . HP:0000293 a owl:Class . HP:0000294 a owl:Class . HP:0000297 a owl:Class . HP:0000298 a owl:Class . HP:0000303 a owl:Class . HP:0000307 a owl:Class . HP:0000311 a owl:Class . HP:0000316 a owl:Class . HP:0000319 a owl:Class . HP:0000321 a owl:Class . HP:0000322 a owl:Class . HP:0000325 a owl:Class . HP:0000331 a owl:Class . HP:0000336 a owl:Class . HP:0000337 a owl:Class . HP:0000340 a owl:Class . HP:0000341 a owl:Class . HP:0000343 a owl:Class . HP:0000347 a owl:Class . HP:0000349 a owl:Class . HP:0000358 a owl:Class . HP:0000369 a owl:Class . HP:0000378 a owl:Class . HP:0000384 a owl:Class . HP:0000385 a owl:Class . HP:0000387 a owl:Class . HP:0000394 a owl:Class . HP:0000396 a owl:Class . HP:0000400 a owl:Class . HP:0000411 a owl:Class . HP:0000414 a owl:Class . HP:0000418 a owl:Class . HP:0000426 a owl:Class . HP:0000430 a owl:Class . HP:0000431 a owl:Class . HP:0000437 a owl:Class . HP:0000444 a owl:Class . HP:0000445 a owl:Class . HP:0000446 a owl:Class . HP:0000448 a owl:Class . HP:0000455 a owl:Class . HP:0000456 a owl:Class . HP:0000457 a owl:Class . HP:0000460 a owl:Class . HP:0000463 a owl:Class . HP:0000465 a owl:Class . HP:0000470 a owl:Class . HP:0000472 a owl:Class . HP:0000474 a owl:Class . HP:0000475 a owl:Class . HP:0000490 a owl:Class . HP:0000494 a owl:Class . HP:0000506 a owl:Class . HP:0000508 a owl:Class . HP:0000520 a owl:Class . HP:0000527 a owl:Class . HP:0000535 a owl:Class . HP:0000537 a owl:Class . HP:0000561 a owl:Class . HP:0000574 a owl:Class . HP:0000581 a owl:Class . HP:0000582 a owl:Class . HP:0000601 a owl:Class . HP:0000621 a owl:Class . HP:0000625 a owl:Class . HP:0000637 a owl:Class . HP:0000653 a owl:Class . HP:0000656 a owl:Class . HP:0000664 a owl:Class . HP:0000677 a owl:Class . HP:0000678 a owl:Class . HP:0000684 a owl:Class . HP:0000687 a owl:Class . HP:0000691 a owl:Class . HP:0000695 a owl:Class . HP:0000699 a owl:Class . HP:0000954 a owl:Class . HP:0001092 a owl:Class . HP:0001126 a owl:Class . HP:0001169 a owl:Class . HP:0001171 a owl:Class . HP:0001181 a owl:Class . HP:0001182 a owl:Class . HP:0001188 a owl:Class . HP:0001193 a owl:Class . HP:0001199 a owl:Class . HP:0001217 a owl:Class . HP:0001234 a owl:Class . HP:0001238 a owl:Class . HP:0001245 a owl:Class . HP:0001357 a owl:Class . HP:0001500 a owl:Class . HP:0001572 a owl:Class . HP:0001598 a owl:Class . HP:0001761 a owl:Class . HP:0001763 a owl:Class . HP:0001765 a owl:Class . HP:0001769 a owl:Class . HP:0001773 a owl:Class . HP:0001786 a owl:Class . HP:0001792 a owl:Class . HP:0001795 a owl:Class . HP:0001799 a owl:Class . HP:0001803 a owl:Class . HP:0001805 a owl:Class . HP:0001807 a owl:Class . HP:0001809 a owl:Class . HP:0001816 a owl:Class . HP:0001831 a owl:Class . HP:0001833 a owl:Class . HP:0001837 a owl:Class . HP:0001838 a owl:Class . HP:0001839 a owl:Class . HP:0001840 a owl:Class . HP:0001845 a owl:Class . HP:0001852 a owl:Class . HP:0001857 a owl:Class . HP:0002000 a owl:Class . HP:0002002 a owl:Class . HP:0002007 a owl:Class . HP:0002057 a owl:Class . HP:0002162 a owl:Class . HP:0002209 a owl:Class . HP:0002236 a owl:Class . HP:0002263 a owl:Class . HP:0002292 a owl:Class . HP:0002553 a owl:Class . HP:0002676 a owl:Class . HP:0002710 a owl:Class . HP:0002714 a owl:Class . HP:0003189 a owl:Class . HP:0003191 a owl:Class . HP:0003196 a owl:Class . HP:0004050 a owl:Class . HP:0004060 a owl:Class . HP:0004099 a owl:Class . HP:0004279 a owl:Class . HP:0004283 a owl:Class . HP:0004467 a owl:Class . HP:0004681 a owl:Class . HP:0005280 a owl:Class . HP:0005469 a owl:Class . HP:0005487 a owl:Class . HP:0006184 a owl:Class . HP:0006191 a owl:Class . HP:0006288 a owl:Class . HP:0006315 a owl:Class . HP:0006480 a owl:Class . HP:0007495 a owl:Class . HP:0007874 a owl:Class . HP:0008094 a owl:Class . HP:0008523 a owl:Class . HP:0008577 a owl:Class . HP:0008593 a owl:Class . HP:0009085 a owl:Class . HP:0009380 a owl:Class . HP:0009381 a owl:Class . HP:0009465 a owl:Class . HP:0009466 a owl:Class . HP:0009486 a owl:Class . HP:0009623 a owl:Class . HP:0009659 a owl:Class . HP:0009748 a owl:Class . HP:0009754 a owl:Class . HP:0009755 a owl:Class . HP:0009765 a owl:Class . HP:0009776 a owl:Class . HP:0009777 a owl:Class . HP:0009882 a owl:Class . HP:0009890 a owl:Class . HP:0009891 a owl:Class . HP:0009892 a owl:Class . HP:0009897 a owl:Class . HP:0009898 a owl:Class . HP:0009899 a owl:Class . HP:0009901 a owl:Class . HP:0009902 a owl:Class . HP:0009907 a owl:Class . HP:0009908 a owl:Class . HP:0009909 a owl:Class . HP:0009927 a owl:Class . HP:0009928 a owl:Class . HP:0009931 a owl:Class . HP:0009932 a owl:Class . HP:0009933 a owl:Class . HP:0009934 a owl:Class . HP:0009938 a owl:Class . HP:0010049 a owl:Class . HP:0010055 a owl:Class . HP:0010282 a owl:Class . HP:0010284 a owl:Class . HP:0010285 a owl:Class . HP:0010290 a owl:Class . HP:0010291 a owl:Class . HP:0010292 a owl:Class . HP:0010296 a owl:Class . HP:0010297 a owl:Class . HP:0010298 a owl:Class . HP:0010487 a owl:Class . HP:0010489 a owl:Class . HP:0010491 a owl:Class . HP:0010492 a owl:Class . HP:0010511 a owl:Class . HP:0010557 a owl:Class . HP:0010620 a owl:Class . HP:0010621 a owl:Class . HP:0010650 a owl:Class . HP:0010669 a owl:Class . HP:0010689 a owl:Class . HP:0010717 a owl:Class . HP:0010743 a owl:Class . HP:0010748 a owl:Class . HP:0010749 a owl:Class . HP:0010751 a owl:Class . HP:0010752 a owl:Class . HP:0010759 a owl:Class . HP:0010760 a owl:Class . HP:0010761 a owl:Class . HP:0010764 a owl:Class . HP:0010793 a owl:Class . HP:0010798 a owl:Class . HP:0010800 a owl:Class . HP:0010802 a owl:Class . HP:0010803 a owl:Class . HP:0010804 a owl:Class . HP:0010805 a owl:Class . HP:0010806 a owl:Class . HP:0010807 a owl:Class . HP:0010808 a owl:Class . HP:0010809 a owl:Class . HP:0010810 a owl:Class . HP:0010811 a owl:Class . HP:0010812 a owl:Class . HP:0010813 a owl:Class . HP:0010814 a owl:Class . HP:0011069 a owl:Class . HP:0011090 a owl:Class . HP:0011120 a owl:Class . HP:0011219 a owl:Class . HP:0011220 a owl:Class . HP:0011221 a owl:Class . HP:0011222 a owl:Class . HP:0011223 a owl:Class . HP:0011224 a owl:Class . HP:0011225 a owl:Class . HP:0011228 a owl:Class . HP:0011229 a owl:Class . HP:0011230 a owl:Class . HP:0011231 a owl:Class . HP:0011232 a owl:Class . HP:0011233 a owl:Class . HP:0011234 a owl:Class . HP:0011235 a owl:Class . HP:0011236 a owl:Class . HP:0011237 a owl:Class . HP:0011238 a owl:Class . HP:0011239 a owl:Class . HP:0011240 a owl:Class . HP:0011241 a owl:Class . HP:0011242 a owl:Class . HP:0011246 a owl:Class . HP:0011247 a owl:Class . HP:0011248 a owl:Class . HP:0011249 a owl:Class . HP:0011250 a owl:Class . HP:0011251 a owl:Class . HP:0011252 a owl:Class . HP:0011255 a owl:Class . HP:0011256 a owl:Class . HP:0011257 a owl:Class . HP:0011258 a owl:Class . HP:0011259 a owl:Class . HP:0011260 a owl:Class . HP:0011261 a owl:Class . HP:0011262 a owl:Class . HP:0011263 a owl:Class . HP:0011264 a owl:Class . HP:0011265 a owl:Class . HP:0011266 a owl:Class . HP:0011267 a owl:Class . HP:0011268 a owl:Class . HP:0011269 a owl:Class . HP:0011270 a owl:Class . HP:0011271 a owl:Class . HP:0011272 a owl:Class . HP:0011298 a owl:Class . HP:0011299 a owl:Class . HP:0011300 a owl:Class . HP:0011301 a owl:Class . HP:0011302 a owl:Class . HP:0011303 a owl:Class . HP:0011304 a owl:Class . HP:0011305 a owl:Class . HP:0011307 a owl:Class . HP:0011308 a owl:Class . HP:0011309 a owl:Class . HP:0011310 a owl:Class . HP:0011311 a owl:Class . HP:0011312 a owl:Class . HP:0011313 a owl:Class . HP:0011800 a owl:Class . HP:0011803 a owl:Class . HP:0011822 a owl:Class . HP:0011823 a owl:Class . HP:0011824 a owl:Class . HP:0011825 a owl:Class . HP:0011826 a owl:Class . HP:0011827 a owl:Class . HP:0011828 a owl:Class . HP:0011829 a owl:Class . HP:0011831 a owl:Class . HP:0011832 a owl:Class . HP:0011833 a owl:Class . HP:0012368 a owl:Class . HP:0012370 a owl:Class . HP:0012371 a owl:Class . HP:0012385 a owl:Class . HP:0012386 a owl:Class . HP:0012428 a owl:Class . HP:0012724 a owl:Class . HP:0012725 a owl:Class . HP:0012745 a owl:Class . HP:0012801 a owl:Class . HP:0012802 a owl:Class . HP:0012806 a owl:Class . HP:0012807 a owl:Class . HP:0012809 a owl:Class . HP:0012810 a owl:Class . HP:0012811 a owl:Class . HP:0012812 a owl:Class . HP:0030001 a owl:Class . HP:0030021 a owl:Class . HP:0030022 a owl:Class . HP:0030023 a owl:Class . HP:0030024 a owl:Class . HP:0030025 a owl:Class . HP:0030026 a owl:Class . HP:0030028 a owl:Class . HP:0030029 a owl:Class . HP:0030030 a owl:Class . HP:0030031 a owl:Class . HP:0030032 a owl:Class . HP:0030033 a owl:Class . HP:0030084 a owl:Class . HP:0100260 a owl:Class . HP:0100267 a owl:Class . HP:0100807 a owl:Class . HP:0100876 a owl:Class . HP:0200055 a owl:Class . HP:0400000 a owl:Class . HP:0400001 a owl:Class . HP:0400002 a owl:Class . HP:0400003 a owl:Class . HP:0400004 a owl:Class . HP:0400005 a owl:Class . HP:0005272 a owl:Class . HP:0008569 a owl:Class . HP:0010801 a owl:Class . HP:0100015 a owl:Class . HP:0100258 a owl:Class . HP:0100259 a owl:Class .