01
ARVCF
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- 22Q11.2 Deletion Syndrome
- Standard Disease Name
- 22q11.2 deletion syndrome
- MeSH Tree
- No data
- ICD-10
- D82.1
Identifiers
- DO ID
- No data
- MeSH ID
- D058165
- OMIM ID
- 188400|192430
- UMLS ID
- C2936346|C3266101|C0795907|C0431406
- HPO ID
- No data
Description and Extensions
- Description
- 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmen