| 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://www.ncbi.nlm.nih.gov/books/NBK1516/, http://ghr.nlm.nih.gov/condition/achondrogenesis, http://www.healthline.com/galecontent/achondrogenesis, http://en.wikipedia.org/wiki/Achondrogenesis_type_1B |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
achondrogenesis Fraccaro type [EXACT] |
| Parent Relationships |
is_a achondrogenesis |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |