pontocerebellar hypoplasia type 2F Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

pontocerebellar hypoplasia type 2F (DOID:0112329)
Alliance: disease page
Synonyms: PCH2F
Alt IDs: OMIM:617026
Definition: A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24