01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- B4Galt1-Cdg
- Standard Disease Name
- b4galt1-cdg
- MeSH Tree
- No data
- ICD-10
- E77.8
Identifiers
- DO ID
- No data
- MeSH ID
- C535753
- OMIM ID
- 607091
- UMLS ID
- C2931009
- HPO ID
- No data
Description and Extensions
- Description
- B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one cas
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