melanoma and neural system tumor syndrome
Information
- Disease name
- melanoma and neural system tumor syndrome
- Disease ID
- DOID:0111511
- Description
- "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10797439, url:https\://www.ncbi.nlm.nih.gov/pubmed/8414022, url:https\://www.ncbi.nlm.nih.gov/pubmed/8635060]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:8468
- Cross Reference ID (Disease Ontology)
- MESH:C536149
- Cross Reference ID (Disease Ontology)
- MIM:155755
- Cross Reference ID (Disease Ontology)
- NCI:C176905
- Cross Reference ID (Disease Ontology)
- ORDO:252206
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:717968005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1835042
- Exact Synonym (Disease Ontology)
- melanoma-astrocytoma syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 252206