MCID: TYS003
MIFTS: 8

Tay-Sachs Disease, B Variant, Juvenile Form

Categories: Metabolic diseases, Eye diseases, Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Tay-Sachs Disease, B Variant, Juvenile Form

MalaCards integrated aliases for Tay-Sachs Disease, B Variant, Juvenile Form:

Name: Tay-Sachs Disease, B Variant, Juvenile Form 55
Gm2 Gangliosidosis, B Variant, Juvenile Form 55
Hexosaminidase a Deficiency, Juvenile Form 55

Classifications:



External Ids:

Orphanet 55 ORPHA309185
ICD10 via Orphanet 33 E75.0

Summaries for Tay-Sachs Disease, B Variant, Juvenile Form

MalaCards based summary : Tay-Sachs Disease, B Variant, Juvenile Form, is also known as gm2 gangliosidosis, b variant, juvenile form. An important gene associated with Tay-Sachs Disease, B Variant, Juvenile Form is HEXA (Hexosaminidase Subunit Alpha).

Related Diseases for Tay-Sachs Disease, B Variant, Juvenile Form

Symptoms & Phenotypes for Tay-Sachs Disease, B Variant, Juvenile Form

Drugs & Therapeutics for Tay-Sachs Disease, B Variant, Juvenile Form

Search Clinical Trials , NIH Clinical Center for Tay-Sachs Disease, B Variant, Juvenile Form

Genetic Tests for Tay-Sachs Disease, B Variant, Juvenile Form

Anatomical Context for Tay-Sachs Disease, B Variant, Juvenile Form

Publications for Tay-Sachs Disease, B Variant, Juvenile Form

Variations for Tay-Sachs Disease, B Variant, Juvenile Form

Expression for Tay-Sachs Disease, B Variant, Juvenile Form

Search GEO for disease gene expression data for Tay-Sachs Disease, B Variant, Juvenile Form.

Pathways for Tay-Sachs Disease, B Variant, Juvenile Form

GO Terms for Tay-Sachs Disease, B Variant, Juvenile Form

Sources for Tay-Sachs Disease, B Variant, Juvenile Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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