Achondrogenesis Type Ib
Disease ID: disease_node_15660
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| Dbxref | GARD:460, MIM:600972 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080043 |
| Data Source | DOID |
| Synonyms | achondrogenesis Fraccaro type |
| Doid Label | achondrogenesis type IB |
| Doid Description | An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15660 |
| Doid Id | DOID_0080055 |
| Label | Achondrogenesis Type Ib |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)