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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 with disordered steroidogenesis
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Accession:DOID:0050462 term browser browse the term
Definition:An Antley-Bixler syndrome 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. (DO)
Synonyms:exact_synonym: ABS1;   Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis;   Antley-Bixler syndrome like phenotype with disordered steroidogenesis;   Antley-Bixler syndrome, autosomal dominant;   Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase;   Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency;   Multisynostotic Osteodysgenesis;   POR deficiency;   multisynostotic osteodysgenesis with fractures;   trapezoidocephaly synostosis syndrome;   trapezoidocephaly-synostosis syndromes
 primary_id: MIM:201750
 alt_id: DOID:9003979
 xref: NCI:C174439;   NCI:C178415


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Antley-Bixler syndrome with 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: Osteodysgenesis, multisynostotic with fractures ClinVar PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency OMIM
ClinVar		 PMID:9360545 PMID:9536098 PMID:12116245 PMID:14513299 PMID:14758361 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      Antley-Bixler syndrome 3
        Antley-Bixler syndrome with disordered steroidogenesis 2
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              dysostosis 637
                synostosis 402
                  craniosynostosis 337
                    Antley-Bixler syndrome 3
                      Antley-Bixler syndrome with disordered steroidogenesis 2
paths to the root