| 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:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000464 | Abnormality of the neck | |
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| HP:0000520 | Proptosis | |
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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:0000907 | Anterior rib cupping | |
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| HP:0000922 | Posterior rib cupping | |
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| HP:0000926 | Platyspondyly | |
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| HP:0001230 | Broad metacarpals | |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001591 | Bell-shaped chest | |
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| HP:0001840 | Metatarsus varus | "Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc s (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline." [HPO:curators] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002176 | Spinal cord compression | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
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| HP:0002787 | Tracheal calcifications | "Calcification (abnormal deposits of calcium) in the tracheal tissues." [HPO:curators] |
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| HP:0002869 | Flared iliac wings | |
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| HP:0002979 | Bowing of the legs | |
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| HP:0002983 | Micromelia | |
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| HP:0002987 | Elbow contractures | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003026 | Short long bones | |
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| HP:0003085 | Disproportionately long fibulae | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003320 | C1-C2 subluxation | "A partial dislocation of the intervertebral joint between the first and second cervical vertebrae." [HPO:curators] |
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| HP:0003396 | Syringomyelia | |
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| HP:0003467 | Atlantoaxial instability | |
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| HP:0005257 | Thoracic hypoplasia | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005462 | Calcification of falx cerebri | |
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| HP:0006009 | Widened phalanges | |
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| HP:0006380 | Knee flexion deformities | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0006600 | Progressive calcification of costochondral cartilage | |
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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:0009164 | Abnormal calcification of the carpal bones | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009875 | Triangular shaped distal phalanges of the hand | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010655 | Stippling of the epiphyses | "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses (FMA:24012)." [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:0030043 | Hip Subluxation | "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket." [] |
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