Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin

Preferred Label : Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin;

Origin ID

C563402;

UMLS CUI

C1832858;

CISMeF manual mappings
- Ichthyosis-impaired intellectual developmental syndrome with large keratohyalin granules in the skin [OMIM Phenotype]
MeSH term(s) associated for indexing
- ichthyosis [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
Record concept(s)
- Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis-impaired intellectual developmental syndrome with large keratohyalin granules in the skin [OMIM Phenotype]