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:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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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:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [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: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:0000773 | Short ribs | |
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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:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
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HP:0001511 | Intrauterine growth retardation | |
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HP:0001518 | Low birth weight | |
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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: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:0002643 | Neonatal respiratory distress | |
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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:0002827 | Dislocated hips | |
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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:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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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:0005280 | Depressed nasal root and bridge | |
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HP:0005692 | Joint hyperflexibility | |
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HP:0008734 | Decreased testicular size | |
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HP:0008839 | Hypoplastic pelvis | |
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HP:0008897 | Growth retardation, progressive | |
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HP:0009237 | Hypoplastic/small 5th finger | "Hypoplastic/small 5th (little) finger." [HPO:curators] |
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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:0100625 | Enlarged thorax | |
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HP:0100659 | Abnormality of the cerebral vasculature | |
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