Usher Syndrome, Type 2d malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases
Aliases & Descriptions for Usher Syndrome, Type 2d:
usher syndrome, type 2d:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases
OMIM:50 Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by... (611383) more...
MalaCards based summary: Usher Syndrome, Type 2d, also known as usher syndrome 2d, is related to usher syndrome, type 2a, and has symptoms including hearing impairment and rod-cone dystrophy. An important gene associated with Usher Syndrome, Type 2d is WHRN (Whirlin).
UniProtKB/Swiss-Prot:68 Usher syndrome 2D: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Diseases in the Usher Syndrome family:
Diseases related to Usher Syndrome, Type 2d via text searches within MalaCards or GeneCards Suite gene sharing:
Clinvar genetic disease variations for Usher Syndrome, Type 2d:5
Search GEO for disease gene expression data for Usher Syndrome, Type 2d.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet