Term Name: | acrocapitofemoral dysplasia |
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Synonyms: | |
Definition: | An osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that has_material_basis_in homozygous mutation in the Indian hedgehog homolog (IHH) gene on chromosome 2q35. |
Ontology: | Human Disease [DOID:0050604] ( DOID:0050604 ) |