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ZIRC
OBO ID: DOID:0080552
Term Name: congenital disorder of glycosylation Ia Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1a
  • PMM2-congenital disorder of glycosylation
Definition: 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. https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation
References:
Ontology: Human Disease   (DOID:0080552)
OTHER congenital disorder of glycosylation Ia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PMM2 Congenital disorder of glycosylation, type Ia 212065
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None