DiseaseID 902
Kleefstra综合征
disease
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 palpebr
Relationship Network
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Disease: 1Symptom: 8Target: 9Links: 17
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 902
- Core Entity Id
- 1017
- Source Entity Count
- 1
- Preferred Name
- Kleefstra Syndrome
- Name Cn
- Kleefstra综合征
- Name Pinyin
- Kleefstra Zong He Zheng
- Name En
- Kleefstra Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- Disease Definition
- 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.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Kleefstra Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS027304
Umls
C0795833
Sym Map
SMDE04807
Dis Ge Net
C4551771
Umls Sty
T047
Me Sh Class
C10C23F01F03
Tcmbank Disease
3850
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
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.
Me Sh Disease Class
Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome