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Metadata
ID	DOID:14687
Name	diastrophic dysplasia
Definition	An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. http://en.wikipedia.org/wiki/Diastrophic_dysplasia, http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia, http://www.ncbi.nlm.nih.gov/books/NBK22219/
Xrefs	GARD:6275 ICD10CM:Q77.5 MESH:C536170 MIM:222600 NCI:C156311 SNOMEDCT_US_2023_03_01:58561002 UMLS_CUI:C0220726
Subsets	DO_rare_slim NCIthesaurus
Parent Relationships	is_a osteochondrodysplasia is_a autosomal recessive disease