Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614129 http://purl.bioontology.org/ontology/OMIM/614129
Preferred Name	PERRAULT SYNDROME 3
Synonyms	PRLTS3 DFNB81, FORMERLY DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PRLTS3 DFNB81, FORMERLY DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY
prefLabel	PERRAULT SYNDROME 3
Gene Symbol	PRLTS3 CLPP DFNB81
Scope Statement	Caused by mutation in the homolog of the E. coli ATP-dependent protease ClpAP, proteolytic subunit gene (CLPP, 601119.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU010148 http://purl.bioontology.org/ontology/OMIM/MTHU020704 http://purl.bioontology.org/ontology/OMIM/MTHU069221 http://purl.bioontology.org/ontology/OMIM/MTHU037475 http://purl.bioontology.org/ontology/OMIM/MTHU031802 http://purl.bioontology.org/ontology/OMIM/MTHU069222 http://purl.bioontology.org/ontology/OMIM/MTHU043272 http://purl.bioontology.org/ontology/OMIM/MTHU037486 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	19p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614129
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3808414
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display