Antley-Bixler Syndrome Phenotype

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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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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

Below are MeSH descriptors whose meaning is more general than "Antley-Bixler Syndrome Phenotype".

Diseases [C]
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Developmental [C05.116.099]
Dysostoses [C05.116.099.370]
Synostosis [C05.116.099.370.894]
Antley-Bixler Syndrome Phenotype [C05.116.099.370.894.115]
Musculoskeletal Abnormalities [C05.660]
Synostosis [C05.660.906]
Antley-Bixler Syndrome Phenotype [C05.660.906.181]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Musculoskeletal Abnormalities [C16.131.621]
Synostosis [C16.131.621.906]
Antley-Bixler Syndrome Phenotype [C16.131.621.906.181]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Steroid Metabolism, Inborn Errors [C16.320.565.925]
Antley-Bixler Syndrome Phenotype [C16.320.565.925.324]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Steroid Metabolism, Inborn Errors [C18.452.648.925]
Antley-Bixler Syndrome Phenotype [C18.452.648.925.324]

Below are MeSH descriptors whose meaning is related to "Antley-Bixler Syndrome Phenotype".

Below are MeSH descriptors whose meaning is more specific than "Antley-Bixler Syndrome Phenotype".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Antley-Bixler Syndrome Phenotype" by people in UAMS Profiles by year, and whether "Antley-Bixler Syndrome Phenotype" was a major or minor topic of these publications.

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