| 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:0000212 | Gingival hyperplasia | |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000280 | Coarse facial features | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000414 | Bulbous nose | |
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| HP:0000446 | Narrow nasal bridge | |
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| HP:0000520 | Proptosis | |
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| HP:0000598 | Abnormality of the ears | |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001072 | Thickened skin | |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001220 | Interphalangeal joint contractures | |
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| HP:0001239 | Wrist contractures | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001473 | Osteolysis involving metatarsal bones | |
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| HP:0001476 | Delayed closure of the anterior fontanelle | "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:curators] |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001495 | Carpal osteolysis | "Osteolysis affecting carpal bones." [HPO:curators] |
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| HP:0001504 | Metacarpal osteolysis | |
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| HP:0001761 | Pes cavus | |
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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:0001783 | Broad metatarsals | |
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| HP:0001836 | Camptodactyly (feet) | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002829 | Arthralgia | |
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| HP:0002953 | Vertebral compression fractures | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003179 | Protrusio acetabuli | "Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the heep joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head." [HPO:curators] |
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| HP:0003273 | Hip contractures | |
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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:0003493 | Antinuclear antibody positive | |
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| HP:0003593 | Early onset | |
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| HP:0003621 | Juvenile onset | |
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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:0005441 | Sclerotic cranial sutures | "An increased density in the cranial sutures following obliteration." [HPO:curators] |
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| HP:0006012 | Widened metacarpal shaft | |
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| HP:0006086 | Thin metacarpal cortices | |
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| HP:0006234 | Osteolysis involving tarsal bones | "An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones." [HPO:curators] |
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| HP:0006252 | Interphalangeal joint erosions | |
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| HP:0006466 | Contractures of the ankles | |
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| HP:0008011 | Peripheral corneal opacities | |
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| HP:0008078 | Thin metatarsal cortices | |
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| HP:0008090 | Ankylosis of feet small joints | |
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| HP:0008133 | Distal tapering of metatarsals | |
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