alopecia, neurologic defects, and endocrinopathy syndrome

Preferred Label : alopecia, neurologic defects, and endocrinopathy syndrome;

MeSH note : mutation in RBM28 gene;

MeSH synonym : ANE syndrome;

Details

Origin ID

C567425;

UMLS CUI

C2677535;

Currated CISMeF NLP mapping
- ANE syndrome [ORDO Disease]
- Alopecia, neurologic defects, and endocrinopathy syndrome [OMIM Phenotype]
- Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- alopecia [MeSH Descriptor]
- endocrine system diseases [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- alopecia, neurologic defects, and endocrinopathy syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ANE syndrome [ORDO Disease]
- Alopecia, neurologic defects, and endocrinopathy syndrome [OMIM Phenotype]
- Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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