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Metadata
ID	DOID:0080041
Name	hypochondroplasia
Definition	An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. http://en.wikipedia.org/wiki/Hypochondroplasia, http://ghr.nlm.nih.gov/condition/hypochondroplasia, http://www.ncbi.nlm.nih.gov/books/NBK1477/
Xrefs	GARD:6724 ICD10CM:Q77.4 MESH:C562937 MIM:146000 NCI:C118697 ORDO:429 SNOMEDCT_US_2023_03_01:205468002 UMLS_CUI:C0410529
Subsets	DO_rare_slim NCIthesaurus
Parent Relationships	is_a osteochondrodysplasia is_a autosomal dominant disease