DiseaseID 2443

Nijmegen断裂综合征样疾病

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: 3Links: 6
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Record Fields

Scalar fields from the final disease record.

Disease Id
2443
Core Entity Id
2758
Source Entity Count
1
Preferred Name
Nijmegen Breakage Syndrome-Like Disorder
Name Cn
Nijmegen断裂综合征样疾病
Name Pinyin
Nijmegen Duan Lie Zong He Zheng Yang Ji Bing
Name En
Nijmegen Breakage Syndrome-Like Disorder
Name Latin
Bilingual Status
complete
Disease Type
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Do Class
Hpo Class
Mesh Class Name
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
Nijmegen Breakage Syndrome-Like Disorder
Role
preferred
Name
MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY
Role
alias
Name
NBS-LIKE DISORDER
Role
alias
Name
NBSLD
Role
alias
Name
RAD50 DEFICIENCY
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS029196
Omim
613078
Umls
C2751318
Sym Map
SMDE03802
Dis Ge Net
C2751318
Umls Sty
T047
Me Sh Class
C05C10C16C18C23

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Umls Disease Type
Disease or Syndrome
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease