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neurofibromatosis 1
Summary
- Synonym
-
- NF1
- Peripheral Neurofibromatosis
- Recklinghausen's neurofibromatosis
- neurofibromatosis type I
- von Recklinghausen Disease
- Definition
- 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.
- Super Class
- neurofibromatosis
External Links
- Disease Ontology
- DOID:0111253
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6652 | SORD | sorbitol dehydrogenase | |
| 6900 | CNTN2 | contactin 2 | |
| 8630 | HSD17B6 | hydroxysteroid 17-beta dehydrogenase 6 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
Related Glycoprotein
