Search Ontology:
Human Disease
congenital disorder of glycosylation Ir
- Term ID
- DOID:0080569
- Synonyms
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- congenital disorder of glycosylation 1r
- Definition
- A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/22305527
- References
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- GARD:12398
- MIM:614507
- ORDO:300536
- Ontology
- Human Disease ( DOID:0080569 )
- is a type of
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Genes Involved
Zebrafish Models