| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000396 | Overfolded helices | "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [HPO:curators] |
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| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001177 | Preaxial polydactyly (hands) | "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001539 | Omphalocele | |
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| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0003038 | Fibular hypoplasia | "Underdevelopment of the fibula." [HPO:curators] |
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| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [HPO:curators] |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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| HP:0004279 | Hypoplastic hand | |
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| HP:0004691 | 2-3 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes two and three." [HPO:sdoelken] |
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| HP:0005048 | fusion of carpal bones, especially capitate and hamate | |
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| HP:0005772 | Aplasia/Hypoplasia of the tibia | "Absence or underdevelopment of the tibia." [HPO:curators] |
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| HP:0006097 | 3-4 finger syndactyly | "`Syndactyly` (HP:0001159) with fusion of fingers three and four." [HPO:sdoelken] |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006443 | Patellar aplasia | "Absence of the patella." [HPO:curators] |
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| HP:0006495 | Aplasia/Hypoplasia of the ulna | "Absence or underdevelopment of the ulna." [HPO:curators] |
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| HP:0008362 | Aplasia/Hypoplasia of the hallux | "Absence or underdevelopment of the big toe." [HPO:curators] |
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| HP:0009161 | Aplasia/Hypoplasia of the middle phalanx of the 5th finger | "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] |
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| HP:0009177 | Symphalangism of the middle and proximal phalanges of the 5th finger | "Fusion of the proximal and middle phalanges of the 5th finger." [HPO:curators] |
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| HP:0009568 | Aplasia/Hypoplasia of the middle phalanx of the 2nd finger | |
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| HP:0009601 | Aplasia/Hypoplasia of the thumb | "Hypoplastic/small or absent thumb." [HPO:curators] |
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| HP:0009701 | Synostosis involving the metacarpal bones | "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [HPO:curators] |
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| HP:0009756 | Popliteal pterygium | "A pterygium (or pterygia) occuring in the popliteal region (the back of the knee)." [HPO:curators] |
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| HP:0009773 | Symphalangism affecting the phalanges of the hand | "Fusion of two or more phalangeal bones of the hand." [HPO:curators] |
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| HP:0009778 | Hypoplastic/small thumb | |
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| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | |
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| HP:0010064 | Symphalangism affecting the phalanges of the hallux | |
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| HP:0010109 | Hypoplastic/small hallux | |
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| HP:0010442 | Polydactyly | |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0012725 | Cutaneous syndactyly | "A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits." [HPO:probinson] |
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| HP:0100797 | Toenail dysplasia | "An abnormality of the development of the toenails." [HPO:probinson] |
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