Melnick-Fraser Syndrome

Preferred Label : Melnick-Fraser Syndrome;

NCIt synonyms : Branchio-oto-renal Syndrome;

NCIt definition : An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities.;

Alternative definition : NICHD: A hereditary disorder caused by mutations in the EYA1 gene, which is characterized by hearing loss, structural defects of the ear, branchial fistulas or cysts, and early, progressive chronic renal failure.;

Details

Origin ID

C98983;

UMLS CUI

C0265234;

Currated CISMeF NLP mapping
- BOR syndrome [ORDO Disease]
- Branchio-Oto-Renal syndrome [MeSH concept]
- Branchio-oto-renal syndrome [MedDRA Preferred Term]
- Branchio-oto-renal syndrome [ICD-11 More detail]
- Branchiootorenal syndrome [MedDRA LLT]
- Branchiootorenal syndrome 1 [OMIM Phenotype]
- Melnick-Fraser syndrome [PASCAL descriptor]
- Melnick-Fraser syndrome (disorder) [SNOMED CT concept]
- branchio oto renal syndrome [Disease (Nov.)]
- branchio-oto-renal syndrome [MeSH Descriptor]
- branchiootorenal syndrome [DO Concept]
- melnick-fraser syndrome [SNOMED Notion]
DO Cross reference
- branchiootorenal syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- BOR syndrome [ORDO Disease]
- Branchio-Oto-Renal syndrome [MeSH concept]
- Branchio-oto-renal syndrome [MedDRA Preferred Term]
- Branchio-oto-renal syndrome [ICD-11 More detail]
- Branchiootorenal syndrome [MedDRA LLT]
- Branchiootorenal syndrome 1 [OMIM Phenotype]
- Melnick-Fraser syndrome (disorder) [SNOMED CT concept]
- branchio oto renal syndrome [Disease (Nov.)]
- branchio-oto-renal syndrome [MeSH Descriptor]
- branchiootorenal syndrome [DO Concept]
- melnick-fraser syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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