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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

GARD:10147

MESH:D019280

NCI:C98983

SNOMEDCT_US_2023_03_01:290006

UMLS_CUI:C0265234

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

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