| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| 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:0000013 | Hypoplastic uterus | |
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| HP:0000446 | Narrow nasal bridge | |
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| HP:0000750 | Impaired language development | |
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| HP:0000786 | Primary amenorrhea | |
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| HP:0000815 | Hypergonadotropic hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [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:0001172 | Abnormality of the thumb | |
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| HP:0001204 | Distal symphalangism | "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [HPO:curators] |
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| HP:0001230 | Broad metacarpals | |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001522 | Death in infancy | |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001822 | Hallux valgus | "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0002275 | Poor motor coordination | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002818 | Abnormality of the radius | |
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| HP:0002983 | Micromelia | |
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| HP:0002990 | Fibular aplasia | "Absence of the fibula." [HPO:curators] |
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| HP:0002992 | Abnormality of the tibia | "Abnormality of the tibia (shinbone)." [HPO:curators] |
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| HP:0002997 | Abnormality of the ulna | "Ab abnormality of the ulna bone of the forearm." [HPO:curators] |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003038 | Fibular hypoplasia | "Underdevelopment of the fibula." [HPO:curators] |
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| HP:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [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:0004220 | Hypoplastic/small 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:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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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:0005028 | Widened proximal tibial metaphyses | |
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| HP:0005048 | fusion of carpal bones, especially capitate and hamate | |
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| HP:0005736 | Hypoplastic tibia | |
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| HP:0005819 | Abnormally short and broad middle phalanges | |
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| HP:0005914 | Aplasia/Hypoplasia involving the metacarpal bones | "Aplasia or Hypoplasia affecting the metacarpal bones." [HPO:curators] |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0006492 | Aplasia/Hypoplasia of the fibula | "Absence or underdevelopment of the fibula." [HPO:curators] |
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| HP:0007598 | Bilateral single palmar creases | |
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| HP:0008096 | Medially deviated second toe | |
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| HP:0008368 | Synostosis involving tarsal bones | |
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| HP:0008873 | Short stature, disproportionate short-limbed | "A type of short stature characterized by a short limbs but an average-sized trunk." [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:0009182 | Triangular shaped middle phalanx of the 5th finger | "Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] |
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| HP:0009372 | Type A2 Brachydactyly | |
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| HP:0009373 | Type C Brachydactyly | |
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| HP:0009381 | Hypoplastic/small fingers | |
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| HP:0009465 | Ulnar deviation of fingers | |
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| HP:0009466 | Radial deviation of fingers | |
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| HP:0009467 | Radial deviation of the 2nd finger | "Displacement of the 2nd finger towards the radial side." [HPO:curators] |
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| HP:0009495 | Pseudoepiphyses of the 2nd finger | "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] |
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| HP:0009536 | Hypoplastic/small 2nd finger | "Hypoplastic/small 2nd (index) finger." [HPO:curators] |
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| HP:0009566 | Hypoplastic/small distal phalanx of the 2nd finger | |
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| HP:0009568 | Aplasia/Hypoplasia of the middle phalanx of the 2nd finger | |
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| HP:0009575 | Triangular shaped middle phalanx of the 2nd finger | "Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] |
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| HP:0009601 | Aplasia/Hypoplasia of the thumb | "Hypoplastic/small or absent thumb." [HPO:curators] |
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| HP:0009606 | duplicated distal phalanx of the thumb | "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side." [HPO:curators] |
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| HP:0009638 | Hypoplastic/small proximal phalanx of the thumb | "Hypoplastic/small proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] |
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| HP:0009650 | Hypoplastic/small distal phalanx of the thumb | "Hypoplastic/small distal/terminal phalanx of the thumb." [HPO:curators] |
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| HP:0009684 | Stippling of the epiphysis of the distal phalanx of the thumb | "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb." [HPO:curators] |
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| HP:0009702 | Synostosis involving the carpal bones | |
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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:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators] |
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| HP:0010038 | Hypoplastic/short 2nd metacarpal | |
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| HP:0010055 | Broad hallux | |
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| HP:0010109 | Hypoplastic/small hallux | |
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| HP:0010241 | Hypoplasia of the proximal phalanges of the hand | |
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| HP:0010242 | Aplasia of the proximal phalanges of the hand | |
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| HP:0010508 | Metatarsus valgus | "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight." [HPO:curators] |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0100242 | Sarcoma | "The presence of a `sarcoma` (MPATH:551)." [HPO:sdoelken] |
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| HP:0100387 | Aplasia of the middle phalanges of the toes | |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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