Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614181 http://purl.bioontology.org/ontology/OMIM/614181
Preferred Name	RETINITIS PIGMENTOSA 62
Synonyms	RP62
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RP62
prefLabel	RETINITIS PIGMENTOSA 62
Gene Symbol	MAK RP62
Scope Statement	Onset in the third decade of life or later [MISCELLANEOUS] Caused by mutation in the male germ cell-associated kinase gene (MAK, 154235.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU038545 http://purl.bioontology.org/ontology/OMIM/MTHU035271 http://purl.bioontology.org/ontology/OMIM/MTHU003279 http://purl.bioontology.org/ontology/OMIM/MTHU035269 http://purl.bioontology.org/ontology/OMIM/MTHU030431 http://purl.bioontology.org/ontology/OMIM/MTHU030342 http://purl.bioontology.org/ontology/OMIM/MTHU037111 See more See less
tui	T047
Gene Locus	6p24.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614181
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3280042
OMIM Entry Type	3
OMIM MimType Value	pound

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