| 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:0000215 | Prominent upper lip | |
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| HP:0000219 | Thin upper lip | |
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| HP:0000275 | Narrow face | |
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| HP:0000322 | Short philtrum | |
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| HP:0000324 | Facial asymmetry | |
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| HP:0000381 | Stapes ankylosis | |
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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:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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| HP:0000466 | Limited neck range of motion | |
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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:0000540 | Hypermetropia | |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000879 | Short sternum | |
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| HP:0000920 | Enlargement of the costochondral junction | |
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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:0001032 | Aplasia of the distal interphalangeal creases | "Absence of the distal interphalangeal flexion creases of the fingers." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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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: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:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [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:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001817 | Absent fingernails | |
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| HP:0001857 | Hypoplastic distal phalanges (feet) | |
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| HP:0002515 | Waddling gait | |
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| HP:0002949 | Fused cervical vertebrae | |
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| HP:0002967 | Cubitus valgus | |
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| HP:0003028 | Abnormality of the ankles | |
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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:0003070 | Elbow ankylosis | |
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| HP:0003083 | Dislocated radial head | "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] |
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| HP:0003189 | Long nose | |
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| HP:0003416 | Spinal canal stenosis | |
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| HP:0003468 | Abnormalities of the vertebrae | |
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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: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:0005104 | Hypoplastic nasal septum | "Underdevelopment of the nasal septum." [HPO:curators] |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0005807 | Absent distal phalanges | "Aplasia (absence) of the distal phalanges." [HPO:curators] |
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| HP:0005831 | Type B brachydactyly | |
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| HP:0005880 | Metacarpophalangeal synostoses | |
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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:0006109 | Aplasia of the interphalangeal creases | "Absence of the interphalangeal creases of the fingers." [HPO:curators] |
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| HP:0006147 | Progressive fusion 2nd-5th pip joints | |
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| HP:0006152 | Proximal symphalangism | "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases." [HPO:curators] |
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| HP:0006187 | Fusion of midphalangeal joints | |
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| HP:0006385 | Short lower limbs | |
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| HP:0007598 | Bilateral single palmar creases | |
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| HP:0007943 | Congenital stapes ankylosis | |
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| HP:0008368 | Synostosis involving tarsal bones | |
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| HP:0008386 | Aplasia/Hypoplasia of the nails | |
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| HP:0008460 | Hypoplastic spinal processes | |
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| HP:0008607 | Progressive conductive deafness | |
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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:0009381 | Hypoplastic/small fingers | |
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| HP:0009466 | Radial deviation of fingers | |
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| HP:0009623 | Proximally placed thumb | "Proximally displaced thumb." [HPO:curators] |
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| HP:0009702 | Synostosis involving the carpal bones | |
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| HP:0009765 | Columella, low hanging | "Columella extending inferior to the level of the nasal base, when viewed from the side." [pmid:19152422] |
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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:0009816 | Hypoplasia involving bones of the lower limbs | |
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| HP:0009835 | Aplasia/Hypoplasia of the distal phalanges of the hand | "Absence or underdevelopment of the distal phalanges." [HPO:curators] |
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| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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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:0010047 | Hypoplastic/short 5th metacarpal | |
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| HP:0010055 | Broad hallux | |
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| HP:0010109 | Hypoplastic/small hallux | |
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| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
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| HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | |
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| HP:0010554 | Cutaneous syndactyly of the fingers | "Webbing or fusion of the fingers involving soft parts only." [HPO:curators] |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0010621 | Cutaneous syndactyly of the toes | "Webbing or fusion of the toes involving soft parts only." [HPO:curators] |
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| HP:0010624 | Aplastic/hypoplastic toenails | |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
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| HP:0100264 | Proximal symphalangism | |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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