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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: MIM:218600
 xref: GARD:1602;   ORDO:1223


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Baller-Gerold syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap39 Rho GTPase activating protein 39 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:110,326,918...110,419,500
Ensembl chr 7:108,446,282...108,538,831 		JBrowse link
G C7h8orf82 similar to human chromosome 8 open reading frame 82 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:110,324,408...110,326,752
Ensembl chr 7:108,443,782...108,446,121 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:28492532 NCBI chr 7:110,295,599...110,300,134
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 7:110,311,384...110,317,757
Ensembl chr 7:108,430,792...108,437,111 		JBrowse link
G Lrrc24 leucine rich repeat containing 24 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:110,317,935...110,325,201
Ensembl chr 7:108,437,296...108,444,438 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:28492532 NCBI chr 7:110,300,254...110,304,108
Ensembl chr 7:108,421,350...108,423,461 		JBrowse link
G Recql4 RecQ like helicase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis radial aplasia syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Zfp251 zinc finger protein 251 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome ClinVar PMID:12734318 PMID:12952869 PMID:28492532 NCBI chr 7:110,449,194...110,479,218
Ensembl chr 7:108,568,597...108,598,623 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11404
      Baller-Gerold syndrome 8
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      musculoskeletal system disease 8462
        connective tissue disease 5919
          bone disease 4369
            bone development disease 2387
              dysostosis 639
                synostosis 402
                  craniosynostosis 337
                    Baller-Gerold syndrome 8
paths to the root