MCID: USH030
MIFTS: 13

Usher Syndrome, Type Ik malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Usher Syndrome, Type Ik

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Aliases & Descriptions for Usher Syndrome, Type Ik:

Name: Usher Syndrome, Type Ik 52 12

Characteristics:

HPO:

64
usher syndrome, type ik:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 614990

Summaries for Usher Syndrome, Type Ik

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OMIM:52 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with... (614990) more...

MalaCards based summary: Usher Syndrome, Type Ik is related to usher syndrome type 1k, and has symptoms including rod-cone dystrophy, motor delay and vestibular dysfunction. An important gene associated with Usher Syndrome, Type Ik is USH1K (Usher Syndrome 1K (Autosomal Recessive)).

Related Diseases for Usher Syndrome, Type Ik

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Symptoms & Phenotypes for Usher Syndrome, Type Ik

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Symptoms by clinical synopsis from OMIM:

614990

Clinical features from OMIM:

614990

Human phenotypes related to Usher Syndrome, Type Ik:

 64
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 HP:0000510
2 motor delay64 HP:0001270
3 vestibular dysfunction64 HP:0001751

Drugs & Therapeutics for Usher Syndrome, Type Ik

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Usher Syndrome, Type Ik

Genetic Tests for Usher Syndrome, Type Ik

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Anatomical Context for Usher Syndrome, Type Ik

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Publications for Usher Syndrome, Type Ik

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Variations for Usher Syndrome, Type Ik

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Expression for genes affiliated with Usher Syndrome, Type Ik

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Search GEO for disease gene expression data for Usher Syndrome, Type Ik.

Pathways for genes affiliated with Usher Syndrome, Type Ik

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GO Terms for genes affiliated with Usher Syndrome, Type Ik

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Sources for Usher Syndrome, Type Ik

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet