ONTOLOGY REPORT - ANNOTATIONS


Term:Antley-Bixler syndrome
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Accession:DOID:0050462 term browser browse the term
Definition: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).
Synonyms:exact_synonym: Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency;   Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis;   Antley Bixler Syndrome with Disordered Steroidogenesis;   Antley Bixler Syndrome, Autosomal Dominant;   Antley Bixler syndrome phenotype;   Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase;   Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency;   Cytochrome P450 Oxidoreductase Deficiency;   DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY;   Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency;   Multisynostotic Osteodysgenesis;   Multisynostotic Osteodysgenesis With Long Bone Fractures;   Osteodysgenesis, Multisynostotic, With Fractures;   POR Deficiency;   Trapezoidocephaly-Synostosis Syndromes;   trapezoidocephaly synostosis syndrome
 primary_id: MESH:D054882
 alt_id: OMIM:613571;   RDO:0003682
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Antley-Bixler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
RGD:8554872
RGD:12801485
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
RGD:11554173
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
G Tmem120a transmembrane protein 120A JBrowse link 12 23,989,596 23,998,257 RGD:8554872
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        Musculoskeletal Abnormalities 1191
          synostosis 148
            Antley-Bixler syndrome 3
              ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS 2
              Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  Antley-Bixler syndrome 3
                    ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS 2
                    Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 2
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