Antley-Bixler Syndrome Phenotype
"Antley-Bixler Syndrome Phenotype" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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).
| Descriptor ID |
D054882
|
| MeSH Number(s) |
C05.116.099.370.894.115 C05.660.906.181 C16.131.621.906.181 C16.320.565.925.324 C18.452.648.925.324
|
| Concept/Terms |
Antley-Bixler Syndrome Phenotype- Antley-Bixler Syndrome Phenotype
- Antley Bixler Syndrome Phenotype
- Phenotype, Antley-Bixler Syndrome
- Syndrome Phenotype, Antley-Bixler
POR Deficiency- POR Deficiency
- Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis
- Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis
- Cytochrome P450 Oxidoreductase Deficiency
- Antley-Bixler Syndrome with Disordered Steroidogenesis
- Antley Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant- Antley-Bixler Syndrome, Autosomal Dominant
- Antley Bixler Syndrome, Autosomal Dominant
- Trapezoidocephaly-Synostosis Syndrome
- Syndrome, Trapezoidocephaly-Synostosis
- Syndromes, Trapezoidocephaly-Synostosis
- Trapezoidocephaly Synostosis Syndrome
- Trapezoidocephaly-Synostosis Syndromes
- Multisynostotic Osteodysgenesis With Long Bone Fractures
- Osteodysgenesis, Multisynostotic, With Fractures
- Antley-Bixler Syndrome
- Antley Bixler Syndrome
- Syndrome, Antley-Bixler
- Multisynostotic Osteodysgenesis
- Osteodysgenesis, Multisynostotic
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Below are MeSH descriptors whose meaning is more general than "Antley-Bixler Syndrome Phenotype".
Below are MeSH descriptors whose meaning is more specific than "Antley-Bixler Syndrome Phenotype".
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