Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/124480
http://purl.bioontology.org/ontology/OMIM/124480
Preferred Name

DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
Synonyms
DDOD SYNDROME
DDOD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DDOD SYNDROME
DDOD
prefLabel
DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
Gene Symbol
ATP6B2
DOOD
ZLS2
VPP3
ATP6V1B2
Scope Statement
Caused by mutation in the ATPase, H+ transporting, lysosomal, V1 subunit B, isoform 2 gene (ATP6B1B2, 606939.0001) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU067109
http://purl.bioontology.org/ontology/OMIM/MTHU020345
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU000195
http://purl.bioontology.org/ontology/OMIM/MTHU036665
http://purl.bioontology.org/ontology/OMIM/MTHU003746
http://purl.bioontology.org/ontology/OMIM/MTHU036668
http://purl.bioontology.org/ontology/OMIM/MTHU036662
http://purl.bioontology.org/ontology/OMIM/MTHU017293
http://purl.bioontology.org/ontology/OMIM/MTHU012780
http://purl.bioontology.org/ontology/OMIM/MTHU067110
http://purl.bioontology.org/ontology/OMIM/MTHU036667
http://purl.bioontology.org/ontology/OMIM/MTHU003747
http://purl.bioontology.org/ontology/OMIM/MTHU053384
http://purl.bioontology.org/ontology/OMIM/MTHU036664
http://purl.bioontology.org/ontology/OMIM/MTHU036408
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tui
T047
Gene Locus
8p21.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
124480
Semantic type UMLS property
Has inheritance type
cui
C2675730
OMIM Entry Type
3
OMIM MimType Value
pound
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