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 | |
Subsets |
DO_rare_slim |
Synonyms |
achondrogenesis Fraccaro type [EXACT] |
Parent Relationships |
is_a achondrogenesis |