DiseaseID 25776
安特利-比克斯勒综合征，无生殖器异常或类固醇生成障碍
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
MSH2017_2016_08_12:Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.
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Disease: 1Symptom: 3Target: 16Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25776
- Core Entity Id
- 118344
- Source Entity Count
- 1
- Preferred Name
- Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
- Name Cn
- 安特利-比克斯勒综合征，无生殖器异常或类固醇生成障碍
- Name Pinyin
- An Te Li - Bi Ke Si Lei Zong He Zheng ， Wu Sheng Zhi Qi Yi Chang Huo Lei Gu Chun Sheng Cheng Zhang Ai
- Name En
- Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
- 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
- MSH2017_2016_08_12:Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C2936791
Sym Map
SMDE00295
Etcm Disease
Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis
Itcmdb Generated
ITX-DISEASE-A6A9C7116C7E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis Details page
Basic Information
Disease Name
Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases
Disease Definition
MSH2017_2016_08_12:Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.