DiseaseID 18012

多关节脱位、身材矮小和颅面畸形伴或不伴先天性心脏缺陷

disease

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Relationship Network

Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

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Disease: 1Formula: 5Target: 20Links: 29
Arranging relationship network...

Record Fields

Scalar fields from the final disease record.

Disease Id
18012
Core Entity Id
76337
Source Entity Count
1
Preferred Name
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Name Cn
多关节脱位、身材矮小和颅面畸形伴或不伴先天性心脏缺陷
Name Pinyin
Duo Guan Jie Tuo Wei 、 Shen Cai Ai Xiao He Lu Mian Ji Xing Ban Huo Bu Ban Xian Tian Xing Xin Zang Que Xian
Name En
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Do Class
genetic disease
Hpo Class
Mesh Class Name
Hpo Class Name
Do Class Name
genetic disease
Disease Definition
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Role
preferred
Name
JDSCD
Role
alias
Name
LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
Role
alias
Name
Larsen-Like Syndrome B3Gat3 Type
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS021176
Omim
245600
Umls
C3278404
Sym Map
SMDE01572
Do Class
DOID:630
Dis Ge Net
C3278404
Umls Sty
T047
Etcm Disease
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects
Tcmbank Disease
13182
Itcmdb Generated
ITX-DISEASE-01601B9E2399

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Page Title
Disease Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Cardiovascular diseases
Dis Ge Net Disease Type
disease
Umls Semantic Type Name
Disease or Syndrome