OBO ID: DOID:0060276
Term Name: pontocerebellar hypoplasia type 7 Search Ontology:
Synonyms:
Definition: A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. https://www.omim.org/entry/614969
References:
Ontology: Human Disease   ( DOID:0060276 )
Relationships
is a type of:
OTHER pontocerebellar hypoplasia type 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TOE1 Pontocerebellar hypoplasia, type 7 614969
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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