| Disease name | MONDO ID | OMIM | Orphanet | ICD-10 / ICD-11 | MeSH | Common synonyms | Inheritance pattern | Prevalence | Incidence | Causal gene | Chromosome location | Protein product | Key pathway |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Neurofibroma | MONDO:0016755 | Not established for neurofibroma as a standalone entity; commonly contextualized within NF1 | Not established for isolated neurofibroma in the gathered evidence | ICD-10: D36.1 (benign neoplasm of peripheral nerves and autonomic nervous system); ICD-11: peripheral nerve sheath benign neoplasm category, exact code not established here | MeSH term used for neurofibroma exists, but identifier not established in gathered evidence | Peripheral nerve sheath tumor; cutaneous neurofibroma; dermal neurofibroma; plexiform neurofibroma; diffuse neurofibroma | Usually occurs in the setting of NF1, which is autosomal dominant with many de novo cases; tumor formation follows a somatic second-hit mechanism in NF1-deficient Schwann lineage cells (pqac-00000002, pqac-00000008) | NF1 pooled prevalence: 1 in 3,164 (95% CI 1 in 2,132-1 in 4,712); nearly all adults with NF1 develop cutaneous neurofibromas, and 30-50% develop plexiform neurofibromas (pqac-00000045, pqac-00000003) | NF1 pooled birth incidence: 1 in 2,662 (95% CI 1 in 1,968-1 in 3,601) (pqac-00000045, pqac-00000048) | NF1 (neurofibromin 1) (pqac-00000005, pqac-00000007, pqac-00000008) | 17q11.2 (pqac-00000002, pqac-00000006) | Neurofibromin, a ~2818 aa RAS-GTPase-activating tumor suppressor (pqac-00000005, pqac-00000007, pqac-00000008) | RAS/MAPK is the core dysregulated pathway; PI3K/AKT/mTOR is also activated downstream of NF1 loss (pqac-00000005, pqac-00000008, pqac-00000009, pqac-00000000) |


*Table: This table summarizes key disease identifiers and high-yield characteristics for neurofibroma, emphasizing its close relationship to NF1-associated tumor biology. It is useful as a compact reference for ontology mapping, epidemiology, and molecular annotation.*