| 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:0000023 | Inguinal hernia | |
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| HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
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| HP:0000280 | Coarse facial features | |
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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:0000365 | Hearing loss | |
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| HP:0000670 | Carious teeth | |
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| HP:0000683 | Grayish enamel | |
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| HP:0000687 | Widely spaced teeth | |
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| HP:0000884 | Prominent sternum | |
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| HP:0000904 | Flaring of rib cage | "The presence of wide, concave anterior rib ends." [HPO:curators] |
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| HP:0000926 | Platyspondyly | |
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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:0001223 | Pointed proximal second through fifth metacarpals | "All of the metacarpal bones of the hand have a pointed proximal appearance." [HPO:curators] |
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| HP:0001388 | Joint laxity | |
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| HP:0001654 | Abnormality of the heart valves | "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002318 | Cervical myelopathy | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
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| HP:0002788 | Recurrent upper respiratory tract infections | |
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| HP:0002808 | Kyphosis | |
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| HP:0002857 | Genu valgum | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003049 | Ulnar deviation of the wrist | |
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| HP:0003053 | Epiphyseal deformities of tubular bones | |
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| HP:0003277 | Constricted iliac wings | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003308 | Cervical subluxation | "Partial dislocation of one or more intervertebral joints in the cervical spine." [HPO:curators] |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003521 | Short stature, disproportionate (short trunk) | |
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| HP:0003621 | Juvenile onset | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0012069 | Keratan sulfate excretion in urine | "An `increased concentration` (PATO:0001162) of `keratan sulfate` (CHEBI:60924) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0012070 | Chondroitin sulfate excretion in urine | "An `increased concentration` (PATO:0001162) of `chondroitin sulfate (CHEBI:37397) in the `urine` (FMA:12274)." [HPO:probinson] |
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| HP:0030865 | Large elbow | "Abnormal increased size of the elbow joint." [] {comment="HPO:probinson"} |
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