Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/610024 http://purl.bioontology.org/ontology/OMIM/610024
Preferred Name	RETINAL CONE DYSTROPHY 3A
Synonyms	RCD3A ACHM6 CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED ACHROMATOPSIA 6
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RCD3A ACHM6 CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED ACHROMATOPSIA 6
prefLabel	RETINAL CONE DYSTROPHY 3A
Gene Symbol	ACHM6 RCD3 PDE6H
Scope Statement	Onset in first to second decade [MISCELLANEOUS] Caused by mutation in the phosphodiesterase 6H gene (PDE6H, 601190.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU008883 http://purl.bioontology.org/ontology/OMIM/MTHU068741 http://purl.bioontology.org/ontology/OMIM/MTHU068742 http://purl.bioontology.org/ontology/OMIM/MTHU068740 http://purl.bioontology.org/ontology/OMIM/MTHU068738 http://purl.bioontology.org/ontology/OMIM/MTHU029961 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU002533 http://purl.bioontology.org/ontology/OMIM/MTHU068744 http://purl.bioontology.org/ontology/OMIM/MTHU068739 http://purl.bioontology.org/ontology/OMIM/MTHU054126 http://purl.bioontology.org/ontology/OMIM/MTHU068743 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047
Gene Locus	12p13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610024
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018 http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3552227 C1864900
OMIM Entry Type	3
OMIM MimType Value	pound

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