Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/608970 http://purl.bioontology.org/ontology/OMIM/608970
Preferred Name	MACULAR DYSTROPHY, PATTERNED, 2
Synonyms	MDPT2 MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MDPT2 MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2
prefLabel	MACULAR DYSTROPHY, PATTERNED, 2
Gene Symbol	MDPT2 CTNNA1
Scope Statement	Variable severity between patients and between eyes (in some patients) [MISCELLANEOUS] Pigmentation not always butterfly-shaped [MISCELLANEOUS] Onset of symptoms in third to fourth decade of life [MISCELLANEOUS] Caused by mutation in the alpha-1 catenin gene (CTNNA1, 116805.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU068679 http://purl.bioontology.org/ontology/OMIM/MTHU050096 http://purl.bioontology.org/ontology/OMIM/MTHU050091 http://purl.bioontology.org/ontology/OMIM/MTHU050098 http://purl.bioontology.org/ontology/OMIM/MTHU050090 http://purl.bioontology.org/ontology/OMIM/MTHU050093 http://purl.bioontology.org/ontology/OMIM/MTHU068680 http://purl.bioontology.org/ontology/OMIM/MTHU050099 http://purl.bioontology.org/ontology/OMIM/MTHU050097 http://purl.bioontology.org/ontology/OMIM/MTHU050094 See more See less
tui	T047
Gene Locus	5q31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608970
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1837029
OMIM Entry Type	3
OMIM MimType Value	pound

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