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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: 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;   congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency;   trapezoidocephaly synostosis syndrome
 primary_id: MESH:D054882
 alt_id: OMIM:613571
 xref: NCI:C174439
For additional species annotation, visit the Alliance of Genome Resources.


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Antley-Bixler syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
ClinVar Annotator: match by term: Antley-Bixler Syndrome, Autosomal Dominant
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8651276 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9462761 PMID:9605588 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 PMID:18391498 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:24656465 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570, PMID:10633130 RGD:12801485 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613571
OMIM
ClinVar
CTD
PMID:9360545 PMID:12116245 PMID:14758361 PMID:15220035 PMID:15483095 PMID:15793702 PMID:16467261 PMID:16470797 PMID:16906539 PMID:17827787 PMID:18230729 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:20124576 PMID:20732302 PMID:20940534 PMID:21084761 PMID:21741353 PMID:21843508 PMID:22162478 PMID:22462747 PMID:24847272 PMID:25712184 PMID:25741868 PMID:27496950 PMID:28492532 PMID:28841001 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency ClinVar NCBI chr12:23,989,596...23,998,257
Ensembl chr12:23,989,596...23,998,254
JBrowse link
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
ClinVar Annotator: match by OMIM:201750
OMIM
ClinVar
PMID:9360545 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 PMID:15483095 PMID:15793702 PMID:16470797 PMID:18559916 PMID:20124576 PMID:20940534 PMID:25741868 PMID:28492532 PMID:28841001 PMID:31837199 NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
ClinVar Annotator: match by term: Antley-bixler syndrome without genital anomalies or disordered steroidogenesis
OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8651276 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9605588 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:12884424 PMID:12884434 PMID:14499350 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 PMID:18391498 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:24656465 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25759925 PMID:25867380 PMID:26362256 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Antley-Bixler syndrome 3
        ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS 2
        Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              dysostosis 344
                synostosis 229
                  Antley-Bixler syndrome 3
                    ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS 2
                    Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 1
paths to the root