Term info
database cross reference
- UMLS:C4015728 (MONDO:ncbi_mim2gene_medline)
- Orphanet:456312 (MONDO:equivalentTo)
- OMIM:616263 (Orphanet:456312/e)
IAO 0000233
https://github.com/monarch-initiative/mondo/issues/4521
created by
https://orcid.org/0000-0001-5208-3432
exactMatch
http://linkedlifedata.com/resource/umls/id/C4015728, https://omim.org/entry/616263, http://purl.obolibrary.org/obo/Orphanet_456312
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0015159, http://purl.obolibrary.org/obo/MONDO_0002356, http://purl.obolibrary.org/obo/MONDO_0015778, http://purl.obolibrary.org/obo/MONDO_0015361, http://purl.obolibrary.org/obo/MONDO_0019589
has broad synonym
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
has exact synonym
infantile-onset multisystem neurologic, endocrine, and pancreatic disease, IMNEPD
id
MONDO:8000012