Visualize Submit Comment

Metadata
ID	DOID:0050463
Name	campomelic dysplasia
Definition	An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. http://en.wikipedia.org/wiki/Campomelic_dysplasia, http://ghr.nlm.nih.gov/condition/campomelic-dysplasia, http://www.healthline.com/galecontent/campomelic-dysplasia-1
Xrefs	GARD:10027 MESH:D055036 MIM:114290 NCI:C120205 NCI:C84609 ORDO:140 UMLS_CUI:C1861922 UMLS_CUI:C1861923
Subsets	DO_rare_slim NCIthesaurus
Synonyms	Acampomelic Campomelic Dysplasia [EXACT]
Parent Relationships	is_a osteochondrodysplasia is_a autosomal dominant disease