| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| 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: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:0000922 | Posterior rib cupping | |
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| HP:0000926 | Platyspondyly | |
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| HP:0001216 | Delayed maturation/delayed ossification of carpal bones | |
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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:0001377 | Limited elbow extension | |
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| HP:0001385 | Hip dysplasia | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0002515 | Waddling gait | |
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| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
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| HP:0002654 | Multiple epiphyseal dysplasia | |
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| HP:0002656 | Epiphyseal dysplasia | |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002812 | Coxa vara | |
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| HP:0002829 | Arthralgia | |
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| HP:0002857 | Genu valgum | |
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| HP:0002868 | Narrow iliac wings | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002970 | Genu varum | |
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| HP:0002979 | Bowing of the legs | |
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| HP:0002983 | Micromelia | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003026 | Short long bones | |
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| HP:0003037 | Enlarged joints | |
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| HP:0003088 | Premature osteoarthritis | |
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| HP:0003090 | Small capital femoral epiphyses | |
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| HP:0003173 | Hypoplastic pubic bones | |
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| HP:0003180 | Flat acetabular roofs | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003365 | Arthralgia (hip) | |
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| HP:0005054 | Wide metaphyses with lateral spurs | |
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| HP:0005257 | Thoracic hypoplasia | |
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| HP:0006429 | Broad femoral neck | "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:Curators] |
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| HP:0008103 | Delayed tarsal ossification | |
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| HP:0008794 | Dysplastic iliac wings | |
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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:0009826 | Hypoplasia involving bones of the extremities | |
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| HP:0010582 | Irregular epiphyses | |
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| HP:0010585 | Small epiphyses | |
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| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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