DiseaseID 15769
Antley-Bixler综合征表型
disease
MSH2017_2016_08_12:An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal f
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Disease: 1Symptom: 1Target: 9Links: 10
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15769
- Core Entity Id
- 73749
- Source Entity Count
- 1
- Preferred Name
- Antley-Bixler Syndrome Phenotype
- Name Cn
- Antley-Bixler综合征表型
- Name Pinyin
- Antley-bixler Zong He Zheng Biao Xing
- Name En
- Antley-Bixler Syndrome Phenotype
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- MSH2017_2016_08_12:An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Antley-Bixler Syndrome Phenotype
Role
preferred
Name
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Role
preferred
Name
Antley-Bixler Syndrome With Disordered Steroidogenesis
Role
preferred
Name
Antley-Bixler Syndrome, Autosomal Dominant
Role
preferred
Name
ABS1
Role
alias
Name
Antley-Bixler Syndrome
Role
alias
Name
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Role
alias
Name
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017741HBDIS019113HBDIS020436HBDIS020616
Me Sh
D054882
Omim
201750207410613571
Umls
C2350233C3150099
Sym Map
SMDE01171SMDE05964
Do Class
DOID:630
Dis Ge Net
C1860042C2350233C2936791C3150099
Umls Sty
T047
Me Sh Class
C05C16C18
Tcmbank Disease
10225136552531730198
Itcmdb Generated
ITX-DISEASE-BFFD6A270D4F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
MSH2017_2016_08_12:An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome