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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:Baller-Gerold syndrome
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Accession:DOID:0050654 term browser browse the term
Definition:A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. (DO)
Synonyms:exact_synonym: BGS;   craniosynostosis with radial defects;   craniosynostosis-radial aplasia syndrome
 primary_id: MESH:C536788
 alt_id: OMIM:218600
 xref: GARD:1602;   ORDO:1223
For additional species annotation, visit the Alliance of Genome Resources.



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Baller-Gerold syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:28492532 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Lrrc14 leucine rich repeat containing 14 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:108,430,779...108,437,118
Ensembl chr 7:108,430,792...108,437,111
JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:28492532 NCBI chr 7:108,419,644...108,423,469
Ensembl chr 7:108,421,350...108,423,461
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects OMIM
ClinVar
PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Baller-Gerold syndrome 4
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              dysostosis 436
                synostosis 273
                  craniosynostosis 219
                    Baller-Gerold syndrome 4
paths to the root