Neurofibromatosis 1
Disease ID: disease_node_5553
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q85.01, ICD9CM:237.71, MESH:D009456, MIM:162200, NCI:C3273, ORDO:636, SNOMEDCT_US_2023_03_01:92824003, UMLS_CUI:C0027831 |
|---|---|
| Subclassof | DOID_8712 |
| Data Source | DOID, MESH |
| Synonyms | NF1, Peripheral Neurofibromatosis, Recklinghausen's neurofibromatosis, neurofibromatosis type I, von Recklinghausen Disease |
| Mesh Id | D009456 |
| Mesh Label | Neurofibromatosis 1 |
| Mesh Subclassof | D017253, D010523 |
| Doid Label | neurofibromatosis 1 |
| Doid Description | A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_5553 |
| Doid Id | DOID_0111253 |
| Label | Neurofibromatosis 1 |
- Incoming r'ship
SUBCLASS_OFto/from Spinal Neurofibromatosis(ID:disease_node_19056) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Neurofibromatoses(ID:disease_node_9133) (Disease)