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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 929 | CD14 | CD14 molecule | |
| 952 | CD38 | CD38 molecule | |
| 1056 | CEL | carboxyl ester lipase | |
| 2026 | ENO2 | enolase 2 | |
| 2271 | FH | fumarate hydratase | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 4360 | MRC1 | mannose receptor C-type 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02246 | Contactin-2 |
