waardenburg syndrome, type 4c

Preferred Label : waardenburg syndrome, type 4c;

MeSH note : mutations in SOX10;

MeSH synonym : waardenburg syndrome with hirschsprung disease, type 4c waardenburg syndrome, type ivc;

Details

Origin ID

C567679;

UMLS CUI

C2750452;

Currated CISMeF NLP mapping
- Waardenburg syndrome type 4C [DO Concept]
- Waardenburg syndrome, type 4c [OMIM Phenotype]
MeSH term(s) associated for indexing
- SOXE transcription factors [MeSH Descriptor]
- hirschsprung disease [MeSH Descriptor]
- waardenburg syndrome [MeSH Descriptor]
Record concept(s)
- waardenburg syndrome, type 4c [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Waardenburg syndrome type 4C [DO Concept]
- Waardenburg syndrome, type 4c [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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