Phosphomannose isomerase deficiency (Q94036)
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CDG syndrome type Ib is a Congenital Disorder of Glycosylation characterised by hepatic-intestinal manifestations (diarrhoea, vomiting, and hepatomegaly associated with hepatic fibrosis).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_803079134 |
||
| English | Phosphomannose isomerase deficiency |
CDG syndrome type Ib is a Congenital Disorder of Glycosylation characterised by hepatic-intestinal manifestations (diarrhoea, vomiting, and hepatomegaly associated with hepatic fibrosis). |
Statements
CID11:ID_803079134
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dki-india-ID_803079134
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Concluído
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15 August 2026
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