neurofibromatosis type 1
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 ]
Term info
- GARD:0007866 (MONDO:equivalentTo)
- ICD9:237.71 (MONDO:i2s)
- UMLS:C0027831 (Orphanet:636/e)
- MESH:C538607 (Orphanet:636/e)
- DECIPHER:15 (MONDO:equivalentTo)
- MESH:D009456 (Orphanet:636/e)
- MedDRA:10047712 (Orphanet:636/e)
- DOID:0111253 (MONDO:equivalentTo)
- OMIM:162200 (Orphanet:636/btnt)
- SCTID:92824003 (MONDO:equivalentTo)
- NCIT:C3273 (MONDO:equivalentTo)
- Orphanet:636 (OMIM:162200)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4948
http://identifiers.org/meddra/10047712
A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
http://linkedlifedata.com/resource/umls/id/C0027831, http://purl.obolibrary.org/obo/DOID_0111253, https://omim.org/entry/162200, http://identifiers.org/mesh/D009456, http://identifiers.org/snomedct/92824003, http://purl.obolibrary.org/obo/NCIT_C3273, http://purl.obolibrary.org/obo/Orphanet_636
http://purl.obolibrary.org/obo/MONDO_0018792, http://purl.obolibrary.org/obo/MONDO_0019300
neurofibromatosis
Nf1-Microdeletion syndrome, NF1, neurofibromatosis type 1, peripheral neurofibromatosis, neurofibromatosis 1, neurofibromatosis, type 1
neurofibromatosis type 1 microdeletion syndrome, type 1 neurofibromatosis, Von Recklinghausen disease, neurofibromatosis, type I, neurofibromatosis, peripheral type, von Reklinghausen disease, Recklinghausen's disease
MONDO:0018975