Opitz Gbbb Syndrome
Disease ID: disease_node_20283
Connections displayed (default: 10).
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| Dbxref | GARD:193, KEGG:H00583, MIM:300000 |
|---|---|
| Subclassof | DOID_0080012, DOID_225 |
| Data Source | DOID |
| Synonyms | Opitz G/BBB Syndrome, Opitz GBBB syndrome type I |
| Doid Label | Opitz GBBB syndrome |
| Doid Description | A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20283 |
| Doid Id | DOID_0080697 |
| Label | Opitz Gbbb Syndrome |
| Doid Alternate Ids | DOID_0050780 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)