loading...| Preferred Name |
neurofibromatosis 1 |
| Synonyms |
von Recklinghausen Disease |
| Definitions |
A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111253 |
| database_cross_reference |
MESH:D009456 ICD10CM:Q85.01 OMIM:162210 ICD9CM:237.71 NCI:C3273 ORDO:636 OMIM:162200 UMLS_CUI:C0027831 SNOMEDCT_US_2022_09_01:92824003 |
| definition |
A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2. |
| has exact synonym |
von Recklinghausen Disease FSNF familial spinal neurofibromatosis neurofibromatosis type I NF1 Peripheral Neurofibromatosis |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111253 |
| in_subset | |
| label |
neurofibromatosis 1 |
| notation |
DOID:0111253 |
| prefLabel |
neurofibromatosis 1 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D009456 | Medical Subject Headings | LOOM |