JSON

neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1

^ http://purl.obolibrary.org/obo/MONDO_8000012

Term info

database cross reference
  • Orphanet:456312 (MONDO:equivalentTo)
  • OMIM:616263 (Orphanet:456312/e)
  • UMLS:C4015728 (MONDO:ncbi_mim2gene_medline)
abbreviation
IMNEPD [ OMIM:616263 Orphanet:456312 MONDO:Lexical ]

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