JSON

neurofibromatosis type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0018975

A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. [ https://orcid.org/0000-0001-5208-3432 Orphanet:636 ]

Synonyms: neurofibromatosis type i Nf1-Microdeletion syndrome neurofibromatosis type 1 NF1 peripheral neurofibromatosis Neurofibromatosis 1 neurofibromatosis 1 neurofibromatosis, type 1

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:18013 (MONDO:equivalentTo)
  • DOID:0111253 (MONDO:equivalentTo)
  • NORD:1502 (MONDO:NORD)
  • OMIM:162200 (Orphanet:636/btnt)
  • MedDRA:10047712 (Orphanet:636/e)
  • GARD:7866 (MONDO:GARD)
  • DECIPHER:15 (MONDO:equivalentTo)
  • SCTID:92824003 (MONDO:equivalentTo)
  • icd11.foundation:337970533 (Orphanet:636)
  • NANDO:1200226 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C3273 (MONDO:equivalentTo)
  • NANDO:2100287 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:1200225 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:2201003 (https://orcid.org/0000-0003-0011-764X)
  • UMLS:C0027831 (MONDO:equivalentTo)
  • MESH:C538607 (Orphanet:636/e)
  • Orphanet:636 (OMIM:162200)
  • MESH:D009456 (Orphanet:636/e)
  • ICD9:237.71 (MONDO:i2s)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6623

https://github.com/monarch-initiative/mondo/issues/4948

closeMatch

http://identifiers.org/meddra/10047712

exactMatch

http://linkedlifedata.com/resource/umls/id/C0027831

http://purl.obolibrary.org/obo/DOID_0111253

http://identifiers.org/medgen/18013

http://www.orpha.net/ORDO/Orphanet_636

https://omim.org/entry/162200

http://identifiers.org/mesh/D009456

http://identifiers.org/snomedct/92824003

http://purl.obolibrary.org/obo/NCIT_C3273

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0021147

http://purl.obolibrary.org/obo/MONDO_0018792

http://purl.obolibrary.org/obo/MONDO_0019300

has broad synonym

neurofibromatosis

has related synonym

neurofibromatosis type 1 microdeletion syndrome

type 1 neurofibromatosis

Von Recklinghausen disease

neurofibromatosis, type I

neurofibromatosis, peripheral type

von Reklinghausen disease

Recklinghausen's disease

id

MONDO:0018975