Phosphomannose isomerase deficiency (Q94036)
From determinar.ia.br - Determine suas informações
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
0 references
