01
BRCC3
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
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
- Moyamoya Disease
- Standard Disease Name
- moyamoya disease
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D054463
- OMIM ID
- 234050
- UMLS ID
- C3495483
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:A trichothiodystrophy syndrome (sulfur-deficient brittle hair), short stature, mental deficiency poor sexual maturation, and infertility originally observed in the Amish kindred. This syndrome has the main characteristics of Tay syndrome (brittle hair, impaired intelligence, decreased fertility, and short stature), except for ichthyosis. Originally observed in an Amish family (hence its name) in Indiana, the syndrome was later reported in other groups, including a Moroccan family.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
target disease8 Targets