Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616517 http://purl.bioontology.org/ontology/OMIM/616517
Preferred Name	ACHROMATOPSIA 7
Synonyms	ACHM7
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ACHM7
prefLabel	ACHROMATOPSIA 7
Gene Symbol	ATF6 ACHM7
Scope Statement	Nonprogressive in most patients [MISCELLANEOUS] Caused by mutation in the activating transcription factor-6 gene (ATF6, 605537.0001) [MOLECULAR BASIS] Symptoms present from infancy or early childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU052089 http://purl.bioontology.org/ontology/OMIM/MTHU052092 http://purl.bioontology.org/ontology/OMIM/MTHU052086 http://purl.bioontology.org/ontology/OMIM/MTHU052091 http://purl.bioontology.org/ontology/OMIM/MTHU036671 http://purl.bioontology.org/ontology/OMIM/MTHU052088 http://purl.bioontology.org/ontology/OMIM/MTHU052087 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU052093 http://purl.bioontology.org/ontology/OMIM/MTHU052090 http://purl.bioontology.org/ontology/OMIM/MTHU052085 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047
Gene Locus	1q22-q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616517
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4225297
OMIM Entry Type	3
OMIM MimType Value	pound

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