coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities

Preferred Label : coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities;

Origin ID

C567328;

UMLS CUI

C4317224;

Currated CISMeF NLP mapping
- Al-Gazali-Dattani syndrome [ORDO Disease]
- Congenital disorder of glycosylation type 1q (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iq [OMIM Phenotype]
- SRD5A3-CDG [ORDO Disease]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1q (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iq [OMIM Phenotype]