Chromosome 8q12.1-q21.2 deletion syndrome

Preferred Label : Chromosome 8q12.1-q21.2 deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bor-duane hydrocephalus contiguous gene syndrome;

Inheritance : Autosomal dominant contiguous gene syndrome;

Prefixed ID : #600257;

Details

Origin ID

600257;

UMLS CUI

C1838346;

Currated CISMeF NLP mapping
- Bor-Duane hydrocephalus contiguous gene syndrome [MeSH concept]
- Bor-Duane hydrocephalus contiguous gene syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the ear [HPO term]
- Abnormality of the eye [HPO term]
- Abnormality of the musculature [HPO term]
- Autosomal dominant contiguous gene syndrome [HPO term]
- Hydrocephalus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bor-Duane hydrocephalus contiguous gene syndrome [MeSH Supplementary Concept]
- Bor-Duane hydrocephalus contiguous gene syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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