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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 |
|---|---|---|---|
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
| 6391 | SDHC | succinate dehydrogenase complex subunit C | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02246 | Contactin-2 |
