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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. [ Orphanet:636 https://orcid.org/0000-0001-5208-3432 ]

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

This is just here as a test because I lose it

Term information

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

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_txgnn_grouping_cancer_or_benign_tumor, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, clingen, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, rare, orphanet_rare, mondo_top_grouping_syndromic_disease, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, susceptibility_mondo, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cancer_or_benign_tumor, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

abbreviation
NF1 [ NCIT:C3273 DOID:0111253 https://omim.org/entry/162200 MONDO:Lexical ]

ClinGen label
neurofibromatosis type 1 [ icd11.foundation:337970533 Orphanet:636 NCIT:C3273 ]

closeMatch

http://identifiers.org/meddra/10047712

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0018975

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

http://identifiers.org/mesh/D009456

https://omim.org/entry/162200

http://identifiers.org/snomedct/92824003

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

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/337970533

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

Von Recklinghausen disease

type 1 neurofibromatosis

neurofibromatosis, type I

neurofibromatosis, peripheral type

von Reklinghausen disease

Recklinghausen's disease

id

MONDO:0018975

term tracker item

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

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