You are using an outdated browser. Please upgrade your browser to improve your experience.
pontocerebellar hypoplasia type 1B
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.
Uniprot Description A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.
Disease Ontology Description A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
Download Data for pontocerebellar hypoplasia type 1B
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060266
OMIM:614678
UMLS:C3553449
MONDO:0013853
High level summary of knowledge for a disease, including descriptions and datasource references.