| 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:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000144 | Decreased fertility | |
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| HP:0000232 | Everted lower lip | |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000307 | Pointed chin | |
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| HP:0000325 | Triangular facies | |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000343 | Long philtrum | |
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| HP:0000411 | Protruding ears | |
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| HP:0000414 | Bulbous nose | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000470 | Short neck | |
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| HP:0000574 | Thick eyebrows | |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000883 | Thin ribs | |
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| HP:0000888 | Short, horizontal ribs | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001838 | Vertical talus | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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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:0002808 | Kyphosis | |
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| HP:0002983 | Micromelia | |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003100 | Thin long bones | |
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| HP:0003173 | Hypoplastic pubic bones | |
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| HP:0003175 | Hypoplastic ischia | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003691 | Scapular winging | |
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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: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:0004570 | Increased vertebral height | |
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| HP:0005274 | Prominent nasal tip | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0008839 | Hypoplastic pelvis | |
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| HP:0009811 | Abnormality of the elbow | |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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| HP:0012428 | Prominent calcaneus | "Protruding heel bone, or `calcaneus`(FMA:24496)." [ORCID:0000-0001-5208-3432] |
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| HP:0012471 | Thick vermilion border | "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson] |
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| HP:0100625 | Enlarged thorax | |
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| HP:0100659 | Abnormality of the cerebral vasculature | |
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