Bor-Duane hydrocephalus contiguous gene syndrome

Preferred Label : Bor-Duane hydrocephalus contiguous gene syndrome;

MeSH synonym : Branchio-Oto-Renal duane hydrocephalus contiguous gene syndrome;

Details

Origin ID

C536574;

UMLS CUI

C1838346;

Currated CISMeF NLP mapping
- Chromosome 8q12.1-q21.2 deletion syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- branchio-oto-renal syndrome [MeSH Descriptor]
- carpal bones [MeSH Descriptor]
- duane retraction syndrome [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
Record concept(s)
- Bor-Duane hydrocephalus contiguous gene syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 8q12.1-q21.2 deletion syndrome [OMIM Phenotype]

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