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Metadata
DOID 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://emedicine.medscape.com/article/1257787-overview, 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

OMIM:222600

SNOMEDCT_US_2018_03_01:58561002

UMLS_CUI:C0220726

Relationships

is_a osteochondrodysplasia

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