| 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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000271 | Abnormality of the face | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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| HP:0000437 | Flat nasal tip | |
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| HP:0000448 | Prominent nose | |
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| HP:0000457 | Flat nose | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, 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 or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001161 | Polydactyly (hands) | |
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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:0001163 | Abnormality of the metacarpal bones | |
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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:0001199 | Triphalangeal thumb | "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001501 | 6 metacarpals | |
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| HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
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| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, 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 toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001829 | Polydactyly (feet) | |
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| HP:0001830 | Postaxial polydactyly (feet) | "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [HPO:curators] |
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| HP:0001841 | Preaxial polydactyly (feet) | "This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet." [HPO:curators] |
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| HP:0001883 | Talipes | |
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| HP:0002000 | Columella, short | "Reduced distance from the anterior border of the naris to the subnasale." [pmid:19152422] |
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| HP:0002714 | Downturned corners of mouth | "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson] |
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| HP:0002990 | Fibular aplasia | "Absence of the fibula." [HPO:curators] |
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| HP:0003019 | Abnormality of the wrist | "Abnormalitly of the wrist, the structure connecting the hand and the forearm." [HPO:curators] |
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| HP:0003974 | Absent ossification/absence of radius | |
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| HP:0003982 | Absent ossification/absent ulna | |
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| HP:0004050 | Absent hands | |
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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:0004231 | Absent carpal bones/absent ossification of the carpal bones | |
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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:0005632 | Absent forearm | |
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| HP:0005736 | Hypoplastic tibia | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0005866 | Opposable triphalangeal thumbs | |
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| HP:0005917 | Supernumerary metacarpal bones | "The presence of more than the normal number of metacarpal bones." [HPO:curators] |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006088 | 1-5 finger complete cutaneous syndactyly | |
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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:0006487 | Bowing of the long bones | |
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| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | "Absence or underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0008368 | Synostosis involving tarsal bones | |
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| HP:0009556 | Aplasia of the tibia | "Absence of the tibia." [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:0009802 | Aplasia of the phalanges of the hand | "Absence of one or more of the phalanges of the hand." [HPO:curators] |
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| HP:0009813 | Phocomelia involving the upper limbs | "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:curators] |
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| HP:0009820 | Peromelia involving the lower limbs | "`Peromelia` HP:0009828) affecting only the lower limbs." [HPO:sdoelken] |
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| HP:0010048 | Aplasia of metacarpal bones | |
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| HP:0010066 | Partial/complete duplication of the phalanges of the hallux | |
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| HP:0010442 | Polydactyly | |
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| HP:0010503 | Fibular duplication | "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition." [HPO:curators] |
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| HP:0010509 | Aplasia of the tarsal bones | "Absence of the tarsal bones." [HPO:curators] |
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| HP:0010689 | Mirror image dupliction of digits | "A mirror-like duplication of the digits of the hands or feet leading to an appearance were radio/ulnar and/or fibular/tibial aspects of the hands and/or feet can not be destinguished anymore. Depending on severity this might also affect the bones of the forarm or lower leg in such a way that there might be two ulnae rather than one radius and ulna each. The same may be seen for the fibula and tibia." [HPO:sdoelken] |
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| HP:0010708 | 1-5 finger syndactyly | "`Syndactyly` (HP:0001159) with fusion of fingers one to five (complete syndactyly of all fingers of the hand)." [HPO:sdoelken] |
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| HP:0010744 | Aplasia of the metatarsal bones | |
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| HP:0010760 | Aplasia of the toes | |
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| HP:0012107 | Increased fibular diameter | "Increased width of the cross sectional diameter of the fibula." [HPO:probinson, MP:0008159] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100524 | Limb duplication | |
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