DiseaseID 14699

Roifman综合征

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: 3Target: 4Links: 7
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Record Fields

Scalar fields from the final disease record.

Disease Id
14699
Core Entity Id
72527
Source Entity Count
1
Preferred Name
Roifman Syndrome
Name Cn
Roifman综合征
Name Pinyin
Roifman Zong He Zheng
Name En
Roifman Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Immune System Diseases; Musculoskeletal Diseases
Do Class
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular 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
Roifman Syndrome
Role
preferred
Name
RFMN
Role
alias
Name
SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS016269
Omim
616651
Umls
C1846059
Sym Map
SMDE04696
Dis Ge Net
C1846059
Umls Sty
T047
Me Sh Class
C05C10C11C14C16C20
Tcmbank Disease
25267

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
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Immune System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome