Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/602722 http://purl.bioontology.org/ontology/OMIM/602722
Preferred Name	RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS
Synonyms	DRTA3 RTADR
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DRTA3 RTADR
prefLabel	RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS
Gene Symbol	ATP6N1B RTA1C ATP6V0A4 DRTA3 VPP2
Scope Statement	Age at hearing loss diagnosis - infancy to early adulthood [MISCELLANEOUS] Age at renal tubular acidosis diagnosis - birth to 4 years (majority <1 year) [MISCELLANEOUS] Caused by mutation in the ATPase, H+ transporting, V0 subunit A4 gene (ATP6V0A4, 605239.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005829 http://purl.bioontology.org/ontology/OMIM/MTHU071437 http://purl.bioontology.org/ontology/OMIM/MTHU006645 http://purl.bioontology.org/ontology/OMIM/MTHU000053 http://purl.bioontology.org/ontology/OMIM/MTHU071540 http://purl.bioontology.org/ontology/OMIM/MTHU037106 http://purl.bioontology.org/ontology/OMIM/MTHU071622 http://purl.bioontology.org/ontology/OMIM/MTHU005834 http://purl.bioontology.org/ontology/OMIM/MTHU071543 See more See less
tui	T047
Gene Locus	7q33-q34
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602722
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5399980
OMIM Entry Type	3
OMIM MimType Value	pound

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