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pontocerebellar hypoplasia, type 1d
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur.
Mondo Term and Equivalent IDs
MONDO:0054844: pontocerebellar hypoplasia, type 1d
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:618065
UMLS:CN252648
MONDO:0054844
High level summary of knowledge for a disease, including descriptions and datasource references.