encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration

Preferred Label : encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration;

Origin ID

C565594;

UMLS CUI

C1856973;

Currated CISMeF NLP mapping
- Encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration [OMIM Phenotype]
MeSH term(s) associated for indexing
- brain diseases, metabolic [MeSH Descriptor]
- calcinosis [MeSH Descriptor]
- cerebral cortex [MeSH Descriptor]
- dwarfism, pituitary [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- retinal degeneration [MeSH Descriptor]
Record concept(s)
- encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bonnemann-Meinecke-Reich syndrome [ORDO Disease]
- Encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration [OMIM Phenotype]