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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:Holt-Oram syndrome
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Accession:DOID:0060468 term browser browse the term
Definition:A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. (DO)
Synonyms:exact_synonym: Atrio-Digital Syndrome;   Cardiac-Limb Syndrome;   Cervico-Oculo-Acoustic Syndrome;   CervicoOculoAcoustic Syndrome;   HOS;   HOS1;   Heart-Hand Syndrome, Type 1;   Heart-hand syndrome;   TBX5-RELATED CONDITION;   Wildervanck syndrome;   atriodigital dysplasia;   ventriculo-radial syndrome
 primary_id: MESH:C535326
 alt_id: OMIM:142900;   OMIM:314600
 xref: GARD:6666;   ICD10CM:Q87.2;   NCI:C125592;   ORDO:392



show annotations for term's descendants           Sort by:
Holt-Oram syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 ISO DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12843316 PMID:30067223 RGD:11556209 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287
JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition OMIM
ClinVar
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:9536098 More... NCBI chr26:11,462,541...11,549,699
Ensembl chr26:11,463,653...11,506,446
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:24465802 PMID:25741868 PMID:26017485 PMID:28492532 PMID:28633253 More... NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    syndrome 10014
      Holt-Oram syndrome 3
Path 2
Term Annotations click to browse term
  disease 17775
    Developmental Disease 17563
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17450
        Congenital Abnormalities 7391
          Cardiovascular Abnormalities 1535
            congenital heart disease 1338
              heart septal defect 212
                atrial heart septal defect 121
                  Holt-Oram syndrome 3
paths to the root