| Metadata | |
|---|---|
| ID | DOID:0080697 |
| Name | Opitz GBBB syndrome |
| Definition | 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. http://www.genome.jp/dbget-bin/www_bget?ds:H00583, http://www.ncbi.nlm.nih.gov/books/NBK1327/, http://www.ncbi.nlm.nih.gov/books/NBK1523/, https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome, https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/, https://pubmed.ncbi.nlm.nih.gov/15558842/, https://www.ncbi.nlm.nih.gov/books/NBK1327/ |
| Xrefs |
KEGG:H00583 |
| Alternateids |
DOID:0050780 |
| Subsets |
DO_MGI_slim DO_rare_slim |
| Synonyms |
Opitz G/BBB Syndrome [EXACT] Opitz GBBB syndrome type I [EXACT] |
| Parent Relationships |
is_a syndrome |