RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
CDG Ia; CDG1A; CDGIa; Jaeken syndrome; PMM2-congenital disorder of glycosylation; carbohydrate-deficient glycoprotein syndrome type 1A; carbohydrate-deficient glycoprotein syndrome type Ia; congenital disorder of glycosylation 1a; congenital disorder of glycosylation type 1A; congenital disorder of glycosylation type Ia; phosphomannomutase 2 deficiency
ClinVar Annotator: match by term: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia | ClinVar Annotator: match by term: Phosphomannomutase 2 deficiency CTD Direct Evidence: marker/mechanism
browse the term
