DiseaseID 14488

脊柱软骨发育不良伴免疫失调

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: 1Symptom: 5Target: 2Links: 7
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Record Fields

Scalar fields from the final disease record.

Disease Id
14488
Core Entity Id
72281
Source Entity Count
1
Preferred Name
Spondyloenchondrodysplasia With Immune Dysregulation
Name Cn
脊柱软骨发育不良伴免疫失调
Name Pinyin
Ji Zhu Ruan Gu Fa Yu Bu Liang Ban Mian Yi Shi Tiao
Name En
Spondyloenchondrodysplasia With Immune Dysregulation
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Do Class
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
Hpo Class Name
Do Class Name
Disease Definition
Version
v1,v2
Suppressed
No

Names

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

Name
Spondyloenchondrodysplasia With Immune Dysregulation
Role
preferred
Name
COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
Role
alias
Name
ROIFMAN IMMUNOSKELETAL SYNDROME
Role
alias
Name
SPENCD
Role
alias
Name
SPENCDI
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS015963
Omim
607944
Umls
C1842763
Sym Map
SMDE01593
Dis Ge Net
C1842763
Umls Sty
T047
Me Sh Class
C05C16C20
Tcmbank Disease
222

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Me Sh Disease Class
Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
Umls Semantic Type Name
Disease or Syndrome