MCID: JVN036
MIFTS: 8

Juvenile Sialidosis Type 2

Categories: Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Juvenile Sialidosis Type 2

MalaCards integrated aliases for Juvenile Sialidosis Type 2:

Name: Juvenile Sialidosis Type 2 55

Characteristics:

Orphanet epidemiological data:

55
juvenile sialidosis type 2
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Orphanet 55 ORPHA93399
ICD10 via Orphanet 33 E77.1

Summaries for Juvenile Sialidosis Type 2

MalaCards based summary : Juvenile Sialidosis Type 2 An important gene associated with Juvenile Sialidosis Type 2 is NEU1 (Neuraminidase 1). Affiliated tissues include bone and eye.

Related Diseases for Juvenile Sialidosis Type 2

Symptoms & Phenotypes for Juvenile Sialidosis Type 2

Drugs & Therapeutics for Juvenile Sialidosis Type 2

Search Clinical Trials , NIH Clinical Center for Juvenile Sialidosis Type 2

Genetic Tests for Juvenile Sialidosis Type 2

Anatomical Context for Juvenile Sialidosis Type 2

MalaCards organs/tissues related to Juvenile Sialidosis Type 2:

38
Bone, Eye

Publications for Juvenile Sialidosis Type 2

Variations for Juvenile Sialidosis Type 2

Expression for Juvenile Sialidosis Type 2

Search GEO for disease gene expression data for Juvenile Sialidosis Type 2.

Pathways for Juvenile Sialidosis Type 2

GO Terms for Juvenile Sialidosis Type 2

Sources for Juvenile Sialidosis Type 2

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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