MCID: EXS014
MIFTS: 12

Exosc3-Related Pontocerebellar Hypoplasia

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Exosc3-Related Pontocerebellar Hypoplasia

MalaCards integrated aliases for Exosc3-Related Pontocerebellar Hypoplasia:

Name: Exosc3-Related Pontocerebellar Hypoplasia 25
Pontocerebellar Hypoplasia Type 1b 25

Characteristics:

GeneReviews:

25
Penetrance Males and females are affected equally...

Classifications:



Summaries for Exosc3-Related Pontocerebellar Hypoplasia

MalaCards based summary : Exosc3-Related Pontocerebellar Hypoplasia, also known as pontocerebellar hypoplasia type 1b, is related to pontocerebellar hypoplasia, type 1b and pontocerebellar hypoplasia. Affiliated tissues include eye.

GeneReviews: NBK236968

Symptoms & Phenotypes for Exosc3-Related Pontocerebellar Hypoplasia

Drugs & Therapeutics for Exosc3-Related Pontocerebellar Hypoplasia

Search Clinical Trials , NIH Clinical Center for Exosc3-Related Pontocerebellar Hypoplasia

Genetic Tests for Exosc3-Related Pontocerebellar Hypoplasia

Anatomical Context for Exosc3-Related Pontocerebellar Hypoplasia

MalaCards organs/tissues related to Exosc3-Related Pontocerebellar Hypoplasia:

42
Eye

Publications for Exosc3-Related Pontocerebellar Hypoplasia

Articles related to Exosc3-Related Pontocerebellar Hypoplasia:

# Title Authors Year
1
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B). ( 30141626 )
2018
2
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. ( 27777260 )
2017

Variations for Exosc3-Related Pontocerebellar Hypoplasia

Expression for Exosc3-Related Pontocerebellar Hypoplasia

Search GEO for disease gene expression data for Exosc3-Related Pontocerebellar Hypoplasia.

Pathways for Exosc3-Related Pontocerebellar Hypoplasia

GO Terms for Exosc3-Related Pontocerebellar Hypoplasia

Sources for Exosc3-Related Pontocerebellar Hypoplasia

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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