DiseaseID 26291
45,X/46,XY混合型性腺发育不全
45,X/46,Xy Mixed Gonadal Dysgenesis
45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to
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Disease: 1Symptom: 6Target: 26Links: 38
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26291
- Core Entity Id
- 118859
- Source Entity Count
- 1
- Preferred Name
- 45,X/46,Xy Mixed Gonadal Dysgenesis
- Name Cn
- 45,X/46,XY混合型性腺发育不全
- Name Pinyin
- 45,x/46,xy Hun He Xing Xing Xian Fa Yu Bu Quan
- Name En
- 45,X/46,Xy Mixed Gonadal Dysgenesis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
45,X/46,Xy Mixed Gonadal Dysgenesis
Role
preferred
Name
45,X/46,XY MGD
Role
alias
Name
45,X0/46,XY MGD
Role
alias
Name
45,X0/46,XY Mixed Gonadal Dysgenesis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Icd10
Q98.7
Sym Map
SMDE02848
Orphanet
1772
Etcm Disease
45,x/46,xy Mixed Gonadal Dysgenesis
Itcmdb Generated
ITX-DISEASE-7B31A5C9C714ITX-DISEASE-C0C1FF8C2D1C
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease 45,x/46,xy Mixed Gonadal Dysgenesis Details page
Basic Information
Disease Name
45,x/46,xy Mixed Gonadal Dysgenesis
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Endocrine diseases;Reproductive diseases
Disease Definition
45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to