MCID: USH016
MIFTS: 13

Usher Syndrome Type 1h

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

Aliases & Classifications for Usher Syndrome Type 1h

MalaCards integrated aliases for Usher Syndrome Type 1h:

Name: Usher Syndrome Type 1h 12 24
Ush1h 12 24
Usher Syndrome, Type Ih 69
Usher Syndrome Type Ih 12

Classifications:



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Disease Ontology 12 DOID:0110835
ICD10 33 H35.5

Summaries for Usher Syndrome Type 1h

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.

MalaCards based summary : Usher Syndrome Type 1h, also known as ush1h, is related to usher syndrome and usher syndrome, type 1d. An important gene associated with Usher Syndrome Type 1h is USH1H (Usher Syndrome 1H (Autosomal Recessive)).

Related Diseases for Usher Syndrome Type 1h

Symptoms & Phenotypes for Usher Syndrome Type 1h

Drugs & Therapeutics for Usher Syndrome Type 1h

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Genetic Tests for Usher Syndrome Type 1h

Genetic tests related to Usher Syndrome Type 1h:

id Genetic test Affiliating Genes
1 Usher Syndrome Type 1h 24 USH1H

Anatomical Context for Usher Syndrome Type 1h

Publications for Usher Syndrome Type 1h

Variations for Usher Syndrome Type 1h

Expression for Usher Syndrome Type 1h

Search GEO for disease gene expression data for Usher Syndrome Type 1h.

Pathways for Usher Syndrome Type 1h

GO Terms for Usher Syndrome Type 1h

Sources for Usher Syndrome Type 1h

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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