01
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
- 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
- Beta-Thalassemia
- Standard Disease Name
- beta-thalassemia
- MeSH Tree
- No data
- ICD-10
- D56.1
Identifiers
- DO ID
- No data
- MeSH ID
- D017086
- OMIM ID
- 613985
- UMLS ID
- C0005283
- HPO ID
- No data
Description and Extensions
- Description
- MSH2017_2016_08_12:A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.