neurofibromatosis
MONDO:0021061Mondo
Findings
No curated finding names neurofibromatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.
Definition from the Mondo Disease Ontology (MONDO:0021061), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CABIN1HGNC:24187
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
1 name
Resolves to: neurofibromatosis
- Also called
- neurofibromatosis syndrome