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| Term | congenital disorder of glycosylation type IIe | ID (Ontology) | DOID:0070257 (Human Disease) |
| Definition | A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. | ||
| Also Known As | "Carbohydrate deficient glycoprotein syndrome type IIe" ; "CDG IIe" ; "CDG syndrome type IIe" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease___________________ congenital disorder of glycosylation | |__congenital disorder of glycosylation type II__| congenital disorder of glycosylation type IIe 4 rec. |
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Relationships
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| Is a |
congenital disorder of glycosylation type II autosomal recessive disease |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:9842 MESH:C535754 MIM:608779 ORDO:79333 SNOMEDCT_US_2023_03_01:717773005 UMLS_CUI:C2931010 |
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