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ABS
MCID: ANT003
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Antley-bixler Syndrome malady |
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Sources: 6Disease Ontology, 33OMIM, 22MalaCards See all sources Export this MalaCard |
Disease Ontology: An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the fgfr2 gene.6
MalaCards: Antley-bixler Syndrome, also known as antley bixler syndrome, is related to disordered steroidogenesis and radioulnar synostosis. An important gene associated with Antley-bixler Syndrome is POR (P450 (cytochrome) oxidoreductase), and among its related pathways are Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics and Estrogen Metabolism Pathway. The compounds aminopyrine and 7-ethoxycoumarin have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and homeostasis/metabolism. OMIM: 207410 |
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Sources: 6Disease Ontology, 33OMIM, 8DISEASES, 32Novoseek , 43UMLS, 30NIH Rare Diseases, 16GeneTests, 24MeSH See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 207410
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for antley-bixler syndrome Drug clinical trials:Search ClinicalTrials for antley-bixler syndrome Search NIH Clinical Center for antley-bixler syndrome Search CenterWatch for antley-bixler syndrome |
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to antley-bixler syndrome:25
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Sources: 35PubMed See all sources |
Articles related to antley-bixler syndrome:(show all 21)
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Sources: 1BioGPS See all sources |
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Sources: 34PharmGKB, 41Thomson Reuters, 10EMD Millipore, 20KEGG, 38Reactome See all sources |
Pathways related to antley-bixler syndrome according to GeneDecks:(show top 50) (show all 57)
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Sources: 32Novoseek , 9DrugBank, 42Tocris Bioscience, 18HMDB, 34PharmGKB See all sources |
Compounds related to antley-bixler syndrome according to GeneDecks:(show top 50) (show all 449)
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Sources: 12Gene Ontology See all sources |
Cellular components related to antley-bixler syndrome according to GeneDecks:
Biological processes related to antley-bixler syndrome according to GeneDecks:(show all 24)
Molecular functions related to antley-bixler syndrome according to GeneDecks:(show all 13)
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