Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Formula: 5Symptom: 4Target: 17Links: 33
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 16983
- Core Entity Id
- 75138
- Source Entity Count
- 1
- Preferred Name
- Bone Fragility With Contractures, Arterial Rupture, And Deafness
- Name Cn
- 骨脆性伴挛缩、动脉破裂和耳聋
- Name Pinyin
- Gu Cui Xing Ban Luan Suo 、 Dong Mai Po Lie He Er Long
- Name En
- Bone Fragility With Contractures, Arterial Rupture, And Deafness
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Role
preferred
Name
LH3 DEFICIENCY
Role
alias
Name
LYSYL HYDROXYLASE 3 DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS019440
Omim
612394
Umls
C2676285
Sym Map
SMDE01811
Dis Ge Net
C2676285
Umls Sty
T047
Me Sh Class
C05C17C23
Etcm Disease
Bone Fragility with Contractures, Arterial Rupture, and Deafness
Tcmbank Disease
13526
Itcmdb Generated
ITX-DISEASE-F0D959AA6B56
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Bone Fragility with Contractures, Arterial Rupture, and Deafness Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Bone Fragility with Contractures, Arterial Rupture, and Deafness
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Me Sh Disease Class
Musculoskeletal Diseases; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome