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Metadata
ID	DOID:0050604
Name	acrocapitofemoral dysplasia
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. https://pubmed.ncbi.nlm.nih.gov/34530144/, https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia
Xrefs	GARD:10605 MESH:C564334 MIM:607778 ORDO:63446
Subsets	DO_rare_slim
Parent Relationships	is_a osteochondrodysplasia is_a autosomal recessive disease