DiseaseID 15459
Ghosal 型血骨干骺端发育不良
disease
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
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Disease: 1Symptom: 4Target: 17Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15459
- Core Entity Id
- 73396
- Source Entity Count
- 1
- Preferred Name
- Ghosal Hematodiaphyseal Dysplasia
- Name Cn
- Ghosal 型血骨干骺端发育不良
- Name Pinyin
- Ghosal Xing Xue Gu Gan Hou Duan Fa Yu Bu Liang
- Name En
- Ghosal Hematodiaphyseal Dysplasia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ghosal Hematodiaphyseal Dysplasia
Role
preferred
Name
Diaphyseal Dysplasia-anemia Syndrome
Role
alias
Name
GHDD
Role
alias
Name
GHOSAL SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017303
Omim
231095
Umls
C1856465
Sym Map
SMDE02394
Dis Ge Net
C1856465
Orphanet
1802
Umls Sty
T019
Me Sh Class
C05C15C16
Etcm Disease
Ghosal Hematodiaphyseal Dysplasia
Tcmbank Disease
13041
Itcmdb Generated
ITX-DISEASE-752E4C9114E4
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Ghosal Hematodiaphyseal Dysplasia Details page
Disease Type
disease
Umls Disease Type
Congenital Abnormality
Basic Information
Disease Name
Ghosal Hematodiaphyseal Dysplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases
Disease Definition
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Congenital Abnormality