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Metadata
ID DOID:0080055
Name achondrogenesis type IB
Definition An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
http://en.wikipedia.org/wiki/Achondrogenesis_type_1B, http://ghr.nlm.nih.gov/condition/achondrogenesis, http://www.healthline.com/galecontent/achondrogenesis, http://www.ncbi.nlm.nih.gov/books/NBK1516/
Xrefs

GARD:460

MIM:600972

Subsets

DO_rare_slim

Synonyms

achondrogenesis Fraccaro type [EXACT]

Parent Relationships

is_a achondrogenesis

is_a autosomal recessive disease

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