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Herb Integrative Database
Traditional Medicine Data Platform
Diseases

Kleefstra syndrome

kleefstra syndrome

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Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

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

Core Information

Disease Name
Kleefstra syndrome
Standard Disease Name
kleefstra syndrome
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
C563043
OMIM ID
610253
UMLS ID
C0795833
HPO ID
No data

Description and Extensions

Description
JABL99:Deletion of the long arm of chromosome 9. It is a rare chromosomal aberration with a variable phenotype. Common manifestations include hypotonia, growth and mental retardation, and down-slanting or oblique palpebral fissures. Additional anomalies may include arhinencephaly, malformed ears, atrial or ventricular septal defects, and lung hypoplasia.