| 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:0000324 | Facial asymmetry | |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000445 | Broad nose | |
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| HP:0000446 | Narrow nasal bridge | |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [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: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:0001371 | Contractures | |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001385 | Hip dysplasia | |
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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:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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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:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001772 | Talipes equinovalgus | |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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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:0001964 | Aplasia/Hypoplasia of metatarsal bones | "Absence or underdevelopment of the metatarsal bones." [HPO:curators] |
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| HP:0002167 | Neurological speech impairment | |
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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:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002818 | Abnormality of the radius | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002948 | Vertebral fusion | "A developmental defect leading to the union of two adjacent vertebrae." [HPO:curators] |
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| HP:0002983 | Micromelia | |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0002986 | Radial bowing | |
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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:0002999 | Dislocation of patella | "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:curators] |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003028 | Abnormality of the ankles | |
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| HP:0003038 | Fibular hypoplasia | "Underdevelopment of the fibula." [HPO:curators] |
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| HP:0003041 | Radiohumeral synostosis | "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:curators] |
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| HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] |
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| HP:0003067 | Madelung deformity | |
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| HP:0003070 | Elbow ankylosis | |
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| HP:0003086 | Acromesomelia | |
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| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [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:0003826 | Stillborn or neonatal death | |
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| HP:0004097 | Deviated fingers | "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges." [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:0004279 | Hypoplastic hand | |
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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:0005048 | fusion of carpal bones, especially capitate and hamate | |
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| HP:0005096 | distal femoral bowing | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005736 | Hypoplastic tibia | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0005819 | Abnormally short and broad middle phalanges | |
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| HP:0005880 | Metacarpophalangeal synostoses | |
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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:0006011 | Short, cuboidal metacarpals | |
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| HP:0006014 | Abnormally shaped carpal bones | |
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| HP:0006092 | Malaligned carpal bone | "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna)." [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:0006110 | Disproportionately short middle phalanges | |
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| HP:0006143 | Abnormal finger flexion creases | |
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| HP:0006144 | Short proximal and middle phalanges | |
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| HP:0006206 | Hypersegmentation of proximal and middle 2nd, 3rd phalanges | |
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| HP:0006228 | Valgus hand deformity | |
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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:0006498 | Aplasia/Hypoplasia of the patella | "Absence or underdevelopment of the patella." [HPO:curators] |
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| HP:0007598 | Bilateral single palmar creases | |
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| HP:0008081 | Valgus foot deformity | |
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| HP:0008096 | Medially deviated second toe | |
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| HP:0008119 | Deformed tarsal bones | |
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| HP:0008368 | Synostosis involving tarsal bones | |
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| HP:0008843 | Hip osteoarthritis | |
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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:0008890 | Severe short-limb dwarfism | |
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| HP:0008905 | Rhizomelic short stature | |
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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: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:0009324 | Enlarged epiphysis of the middle phalanx of the 3rd finger | "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] |
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| HP:0009331 | Triangular epiphysis of the middle phalanx of the 3rd finger | "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] |
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| HP:0009349 | Enlarged epiphysis of the proximal phalanx of the 3rd finger | "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] |
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| HP:0009356 | Triangular epiphysis of the proximal phalanx of the 3rd finger | "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [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:0009417 | Pseudoepiphyses of the 3rd finger | "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] |
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| HP:0009436 | Triangular shaped middle phalanx of the 3rd finger | "Triangular shaped middle phalanx of the 3rd (middle) 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:0009456 | Triangular shaped proximal phalanx of the 3rd finger | "Triangular shaped proximal phalanx of the 3rd (middle) 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:0009461 | Hypoplastic/small 3rd finger | "Hypoplastic/small 3rd (middle) finger." [HPO:curators] |
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| HP:0009463 | Ulnar deviation of the 3rd finger | "Displacement of the 3rd finger towards the ulnar side." [HPO:curators] |
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| HP:0009464 | Ulnar deviation of the 2nd finger | "Displacement of the 2nd (index) finger towards the ulnar side." [HPO:curators] |
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| HP:0009465 | Ulnar 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:0009516 | Enlarged epiphysis of the middle phalanx of the 2nd finger | |
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| HP:0009523 | Triangular epiphysis of the middle phalanx of the 2nd finger | |
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| HP:0009527 | Enlarged epiphysis of the proximal phalanx of the 2nd finger | |
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| HP:0009534 | Triangular epiphysis of the proximal phalanx of the 2nd finger | |
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| HP:0009536 | Hypoplastic/small 2nd finger | "Hypoplastic/small 2nd (index) finger." [HPO:curators] |
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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:0009587 | Triangular shaped proximal phalanx of the 2nd finger | "Triangular shaped proximal 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: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:0009700 | Synostosis involving bones of the fingers | "An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are revered to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are refered to as "bony" Syndactyly." [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:0010034 | Hypoplastic/short 1st metacarpal | "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:0010038 | Hypoplastic/short 2nd metacarpal | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010055 | Broad hallux | |
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| HP:0010109 | Hypoplastic/small hallux | |
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| HP:0010259 | Cone-shaped epiphyses of the middle phalanges of the hand | |
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| HP:0010442 | Polydactyly | |
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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:0010624 | Aplastic/hypoplastic toenails | |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0010760 | Aplasia of the toes | |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0011927 | Short digit | "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." [HPO:probinson] |
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| HP:0011929 | Hypersegmentation of proximal phalanx of third finger | "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger." [HPO:probinson] |
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| HP:0100242 | Sarcoma | "The presence of a `sarcoma` (MPATH:551)." [HPO:sdoelken] |
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| HP:0100264 | Proximal symphalangism | |
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| HP:0100387 | Aplasia of the middle phalanges of the toes | |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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