Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614504
http://purl.bioontology.org/ontology/OMIM/614504
Preferred Name

USHER SYNDROME, TYPE IIIB
Synonyms
USH3B
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
USH3B
prefLabel
USHER SYNDROME, TYPE IIIB
Gene Symbol
CMT2W
HARS1
USH3B
HARS
Scope Statement
Patients are typically blind by second or third decade of life, but pace of visual deterioration is highly variable [MISCELLANEOUS]
Caused by mutation in the histidyl-tRNA synthetase 1 gene (HARS1, 142810.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU069324
http://purl.bioontology.org/ontology/OMIM/MTHU069322
http://purl.bioontology.org/ontology/OMIM/MTHU036140
http://purl.bioontology.org/ontology/OMIM/MTHU036378
http://purl.bioontology.org/ontology/OMIM/MTHU069325
http://purl.bioontology.org/ontology/OMIM/MTHU069323
http://purl.bioontology.org/ontology/OMIM/MTHU069321
http://purl.bioontology.org/ontology/OMIM/MTHU034847
http://purl.bioontology.org/ontology/OMIM/MTHU036142
http://purl.bioontology.org/ontology/OMIM/MTHU036141
http://purl.bioontology.org/ontology/OMIM/MTHU069320
http://purl.bioontology.org/ontology/OMIM/MTHU036133
http://purl.bioontology.org/ontology/OMIM/MTHU036131
http://purl.bioontology.org/ontology/OMIM/MTHU036132
http://purl.bioontology.org/ontology/OMIM/MTHU036139
http://purl.bioontology.org/ontology/OMIM/MTHU030342
http://purl.bioontology.org/ontology/OMIM/MTHU036138
http://purl.bioontology.org/ontology/OMIM/MTHU001947
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tui
T047
Gene Locus
5q31.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614504
Semantic type UMLS property
Has inheritance type
cui
C3281066
OMIM Entry Type
3
OMIM MimType Value
pound
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