DiseaseID 11224
斯科特综合征
disease
JABL99:A craniodigital syndrome characterized by abnormalities of the skull and fingers consisting of micrognathia, thin alae nasi and broad bridge, thin upper lip, and syndactyly in association with mild forms of mental
Relationship Network
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Disease: 1Target: 11Links: 11
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11224
- Core Entity Id
- 68588
- Source Entity Count
- 1
- Preferred Name
- Scott Syndrome
- Name Cn
- 斯科特综合征
- Name Pinyin
- Si Ke Te Zong He Zheng
- Name En
- Scott Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Hemic and Lymphatic Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- JABL99:A craniodigital syndrome characterized by abnormalities of the skull and fingers consisting of micrognathia, thin alae nasi and broad bridge, thin upper lip, and syndactyly in association with mild forms of mental retardation.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Scott Syndrome
Role
preferred
Name
BDPLT7
Role
alias
Name
BLEEDING ABNORMALITY DUE TO DEFICIENCY OF PLATELET BINDING OF FACTOR X
Role
alias
Name
BLEEDING DISORDER, PLATELET-TYPE, 7
Role
alias
Name
PROTHROMBIN CONSUMPTION DEFICIENCY
Role
alias
Name
PROTHROMBIN CONSUMPTION INHIBITOR, FAMILIAL
Role
alias
Name
PROTHROMBIN CONVERSION DEFECT, FAMILIAL
Role
alias
Name
SCTS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011702
Omim
262890
Umls
C0796149
Sym Map
SMDE02774
Do Class
DOID:630DOID:7
Dis Ge Net
C0796149
Umls Sty
T047
Me Sh Class
C15
Tcmbank Disease
22094
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
JABL99:A craniodigital syndrome characterized by abnormalities of the skull and fingers consisting of micrognathia, thin alae nasi and broad bridge, thin upper lip, and syndactyly in association with mild forms of mental retardation.
Me Sh Disease Class
Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome