MCID: CNG348
MIFTS: 7

Congenital Sialidosis Type 2

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

Aliases & Classifications for Congenital Sialidosis Type 2

MalaCards integrated aliases for Congenital Sialidosis Type 2:

Name: Congenital Sialidosis Type 2 60

Characteristics:

Orphanet epidemiological data:

60
congenital sialidosis type 2
Inheritance: Autosomal recessive;

Classifications:



External Ids:

ICD10 via Orphanet 35 E77.1
Orphanet 60 ORPHA93400

Summaries for Congenital Sialidosis Type 2

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

Related Diseases for Congenital Sialidosis Type 2

Diseases in the Juvenile Sialidosis Type 2 family:

Congenital Sialidosis Type 2

Symptoms & Phenotypes for Congenital Sialidosis Type 2

Drugs & Therapeutics for Congenital Sialidosis Type 2

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

Genetic Tests for Congenital Sialidosis Type 2

Anatomical Context for Congenital Sialidosis Type 2

MalaCards organs/tissues related to Congenital Sialidosis Type 2:

42
Bone, Eye

Publications for Congenital Sialidosis Type 2

Variations for Congenital Sialidosis Type 2

Expression for Congenital Sialidosis Type 2

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

Pathways for Congenital Sialidosis Type 2

GO Terms for Congenital Sialidosis Type 2

Sources for Congenital Sialidosis Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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