DiseaseID 17176

脊柱发育不良伴性早熟

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: 1Formula: 5Herb: 2Symptom: 1Target: 19Links: 32
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Record Fields

Scalar fields from the final disease record.

Disease Id
17176
Core Entity Id
75362
Source Entity Count
1
Preferred Name
Spondylodysplasia And Premature Pubarche
Name Cn
脊柱发育不良伴性早熟
Name Pinyin
Ji Zhu Fa Yu Bu Liang Ban Xing Zao Shu
Name En
Spondylodysplasia And Premature Pubarche
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Congenital Abnormality
Disgenet Type
disease
Mesh Class
Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Do Class
disease of anatomical entity; genetic disease
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Hpo Class Name
Do Class Name
genetic disease; disease of anatomical entity
Disease Definition
Version
v1
Suppressed
No

Names

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

Name
Spondylodysplasia And Premature Pubarche
Role
preferred
Name
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Role
preferred
Name
Spondyloepimetaphyseal Dysplasia, Pakistani Type
Role
preferred
Name
BCYM4
Role
alias
Name
SEMD, PAKISTANI TYPE
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS019761HBDIS019762
Omim
612847
Umls
C2748515C2748516
Sym Map
SMDE00241
Do Class
DOID:630DOID:7
Dis Ge Net
C2748515C2748516
Umls Sty
T019T047
Me Sh Class
C05C16C19C23
Etcm Disease
Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes
Tcmbank Disease
159631534
Itcmdb Generated
ITX-DISEASE-0136B28A54A3ITX-DISEASE-464AA7765559

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Page Title
Disease Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Me Sh Disease Class
Endocrine System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome