DiseaseID 26859
9p+综合征
9P+ Syndrome
JABL99:Duplication of the short arm of chromosome 9 with psychomotor retardation, hypertelorism, deep-set eyes, downslanting palpebral fissures, large nose, short upper lip, down-curved corners of the mouth, cup-shaped e
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Disease: 1Symptom: 2Target: 6Links: 8
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26859
- Core Entity Id
- 119427
- Source Entity Count
- 1
- Preferred Name
- 9P+ Syndrome
- Name Cn
- 9p+综合征
- Name Pinyin
- 9p+ Zong He Zheng
- Name En
- 9P+ Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:Duplication of the short arm of chromosome 9 with psychomotor retardation, hypertelorism, deep-set eyes, downslanting palpebral fissures, large nose, short upper lip, down-curved corners of the mouth, cup-shaped ears, kyphoscoliosis, small hands and feet, characteristic dermatoglyphic patterns, and cryptorchidism.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
9P+ Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0265428
Sym Map
SMDE05260
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
JABL99:Duplication of the short arm of chromosome 9 with psychomotor retardation, hypertelorism, deep-set eyes, downslanting palpebral fissures, large nose, short upper lip, down-curved corners of the mouth, cup-shaped ears, kyphoscoliosis, small hands and feet, characteristic dermatoglyphic patterns, and cryptorchidism.