OBO ID: DOID:0060274
Term Name: pontocerebellar hypoplasia type 5 Search Ontology:
Synonyms:
Definition: A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://www.omim.org/entry/610204
References:
Ontology: Human Disease   ( DOID:0060274 )
Relationships
is a type of:
OTHER pontocerebellar hypoplasia type 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSEN54 ?Pontocerebellar hypoplasia type 5 610204
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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