Metadata | |
---|---|
ID | DOID:14702 |
Name | branchiootorenal syndrome |
Definition | A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. https://www.ncbi.nlm.nih.gov/pubmed/263442 |
Xrefs |
SNOMEDCT_US_2023_03_01:290006 |
Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
Synonyms |
Branchio-Oto-renal syndrome [EXACT] Branchio-otorenal dysplasia [EXACT] branchiootorenal dysplasia [EXACT] Melnick-Fraser syndrome [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |