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  • Disease Ontology Term: congenital disorder of glycosylation Ia
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Disease Ontology Term: congenital disorder of glycosylation Ia


DO ID
DOID:0080552
Description
A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.
Synonyms
congenital disorder of glycosylation 1a, PMM2-congenital disorder of glycosylation
View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources

Ontology Diagram


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Evidence ID Analyze ID Gene Gene Systematic Name Disease Ontology Term Disease Ontology Term ID Qualifier Evidence Method Source Assigned On Reference
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Evidence ID Analyze ID Gene Gene Systematic Name Disease Ontology Term Disease Ontology Term ID Qualifier Evidence Method Source Assigned On Reference
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Computational

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Evidence ID Analyze ID Gene Gene Systematic Name Disease Ontology Term Disease Ontology Term ID Qualifier Evidence Method Source Assigned On Reference
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