Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615134 http://purl.bioontology.org/ontology/OMIM/615134
Preferred Name	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
Synonyms	CMM9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMM9
prefLabel	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
Gene Symbol	EST2 CMM9 DKCA2 PFBMFT1 TERT TCS1 DKCB4 See more See less
Scope Statement	Based on a 4-generation family [MISCELLANEOUS] Age at onset range 20-46 years [MISCELLANEOUS] Susceptibility conferred by mutation in the telomerase reverse transcriptase gene (TERT, 187270.0023) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001390 http://purl.bioontology.org/ontology/OMIM/MTHU047142
tui	T033
Gene Locus	5p15.33
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615134
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3554574
OMIM Entry Type	3
OMIM MimType Value	pound

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