01
TBCK
No data
Diseases
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
Grouped by core information, identifiers, and descriptions.
Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.
Core Information
- Disease Name
- Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
- Standard Disease Name
- hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- MeSH Tree
- No data
- ICD-10
- E77.8
Identifiers
- DO ID
- No data
- MeSH ID
- C535745
- OMIM ID
- 607143
- UMLS ID
- C2931001
- HPO ID
- No data
Description and Extensions
- Description
- ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
target disease1 Targets