WormMine: DiseaseOntology DOID:0060272 pontocerebellar hypoplasia type 3 Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:7	disease of anatomical entity	A disease that manifests in a defined anatomical structure.
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:863	nervous system disease	A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:331	central nervous system disease	A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.
DOID:1289	neurodegenerative disease	A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
DOID:0060264	pontocerebellar hypoplasia	A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum.
DOID:0060272	pontocerebellar hypoplasia type 3	A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.

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