DiseaseID 14522

常染色体显性骨硬化症1型

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: 1Target: 2Links: 3
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Record Fields

Scalar fields from the final disease record.

Disease Id
14522
Core Entity Id
72320
Source Entity Count
1
Preferred Name
Osteopetrosis, Autosomal Dominant 1
Name Cn
常染色体显性骨硬化症1型
Name Pinyin
Chang Ran Se Ti Xian Xing Gu Ying Hua Zheng 1 Xing
Name En
Osteopetrosis, Autosomal Dominant 1
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Musculoskeletal Diseases
Do Class
disease of anatomical entity; genetic disease
Hpo Class
Mesh Class Name
Musculoskeletal Diseases
Hpo Class Name
Do Class Name
genetic disease; disease of anatomical entity
Disease Definition
Version
v1,v2
Suppressed
No

Names

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

Name
Osteopetrosis, Autosomal Dominant 1
Role
preferred
Name
Autosomal Dominant Osteopetrosis 1
Role
alias
Name
OPTA1
Role
alias
Name
OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
Role
alias
Name
Osteopetrosis Autosomal Dominant Type 1
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS016019
Omim
607634
Umls
C1843330
Sym Map
SMDE02466
Do Class
DOID:630DOID:7
Dis Ge Net
C1843330
Umls Sty
T047
Me Sh Class
C05
Tcmbank Disease
5055

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
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
Me Sh Disease Class
Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome