Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616063 http://purl.bioontology.org/ontology/OMIM/616063
Preferred Name	POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE
Synonyms	POROK8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	POROK8
prefLabel	POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE
Gene Symbol	SLC17A9 C20orf59 POROK8
Scope Statement	Onset in second and third decades of life [MISCELLANEOUS] Caused by mutation in the solute carrier family 17, member 9 gene (SLC17A9, 612107.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU051146
tui	T047
Gene Locus	20q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616063
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4015128
OMIM Entry Type	3
OMIM MimType Value	pound

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