ZFIN Human Disease: melanoma and neural system tumor syndrome

OBO ID: DOID:0111511

Term Name:	melanoma and neural system tumor syndrome		Search Ontology:
Synonyms:	melanoma-astrocytoma 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. (3)
References:	GARD:8468 MESH:C536149 NCI:C176905 OMIM:155755 ORDO:252206 SNOMEDCT_US_2023_03_01:717968005 UMLS_CUI:C1835042
Ontology:	Human Disease ( DOID:0111511 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER melanoma and neural system tumor syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CDKN2A	cdkn2a/b	{Melanoma and neural system tumor syndrome}	155755
CDKN2B	cdkn2a/b	{Melanoma and neural system tumor syndrome}	155755

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None