| Metadata | |
|---|---|
| ID | DOID:0111511 |
| Name | melanoma and neural system tumor syndrome |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/8414022, https://www.ncbi.nlm.nih.gov/pubmed/10797439, https://www.ncbi.nlm.nih.gov/pubmed/8635060 |
| Xrefs |
SNOMEDCT_US_2023_03_01:717968005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
melanoma-astrocytoma syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |