MCID: USH030
MIFTS: 14

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 50 12

Characteristics:

HPO:

62
usher syndrome, type ik:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 614990

Summaries for Usher Syndrome, Type Ik

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OMIM:50 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 for Usher Syndrome, Type Ik

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Symptoms by clinical synopsis from OMIM:

614990

Clinical features from OMIM:

614990

HPO human phenotypes related to Usher Syndrome, Type Ik:

id Description Frequency HPO Source Accession
1 rod-cone dystrophy HP:0000510
2 motor delay HP:0001270
3 vestibular dysfunction 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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Animal Models for Usher Syndrome, Type Ik or affiliated genes

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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet