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Diseases

22Q11.2 Deletion Syndrome

22q11.2 deletion syndrome

Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

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