DiseaseID 27825
13q缺失综合征
Chromosome 13Q Deletion Syndrome
NCI2016_02D:A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and menta
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Disease: 1Symptom: 1Target: 7Links: 8
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 27825
- Core Entity Id
- 120393
- Source Entity Count
- 1
- Preferred Name
- Chromosome 13Q Deletion Syndrome
- Name Cn
- 13q缺失综合征
- Name Pinyin
- 13q Que Shi Zong He Zheng
- Name En
- Chromosome 13Q Deletion 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
- NCI2016_02D:A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation.|JABL99:Deletion of the long arm of chromosome 13 with a wide spectrum of abnormalities, including retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities. Deletions limited to proximal bands (q13-q31) are marked mainly by growth retardation but no major deformities, those involving band 32q are usually associated with numerous major malformations, and distal deletions are usually complicated by severe mental retardation with comparatively minor abnormalities. Garcia-Lurie syndrome and this disorder share many common clinical features.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Chromosome 13Q Deletion Syndrome
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0265451
Sym Map
SMDE07109
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
NCI2016_02D:A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation.|JABL99:Deletion of the long arm of chromosome 13 with a wide spectrum of abnormalities, including retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities. Deletions limited to proximal bands (q13-q31) are marked mainly by growth retardation but no major deformities, those involving band 32q are usually associated with numerous major malformations, and distal deletions are usually complicated by severe mental retardation with comparatively minor abnormalities. Garcia-Lurie syndrome and this disorder share many common clinical features.