Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/127400 http://purl.bioontology.org/ontology/OMIM/127400
Preferred Name	DYSCHROMATOSIS SYMMETRICA HEREDITARIA
Synonyms	RETICULATE ACROPIGMENTATION OF DOHI DSH SYMMETRIC DYSCHROMATOSIS OF THE EXTREMITIES DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 DSH1 RAD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RETICULATE ACROPIGMENTATION OF DOHI DSH SYMMETRIC DYSCHROMATOSIS OF THE EXTREMITIES DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 DSH1 RAD See more See less
prefLabel	DYSCHROMATOSIS SYMMETRICA HEREDITARIA
Gene Symbol	IFI4 G1P1 DRADA DSH DSRAD ADAR AGS6 See more See less
Scope Statement	Majority of cases in Japan [MISCELLANEOUS] New skin lesions stop appearing before adolescence [MISCELLANEOUS] Onset in infancy and early childhood [MISCELLANEOUS] Caused by mutation in the adenosine deaminase, RNA-specific gene (ADAR, 146920.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018567
tui	T019
Gene Locus	1q21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	127400
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0406775
OMIM Entry Type	3
OMIM MimType Value	pound

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