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DO Term : branchiootorenal syndrome [DOID:14702] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
Branchio-otorenal dysplasia,
GARD:10147,
Melnick-Fraser syndrome,
SNOMEDCT_US_2023_03_01:290006,
Branchio-Oto-renal syndrome,
NCI:C98983,
branchiootorenal dysplasia,
MEDDRA:10071135,
MESH:D019280,
UMLS_CUI:C0265234

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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