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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: MIM:142900;   MIM: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
CTD
RGD
PMID:30067223 PMID:12843316 RGD:11556209 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
JBrowse link
G Tbx5 T-box transcription factor 5 ISO
ISS
DNA:missense mutations, deletion:cds:multiple
DNA:missense mutation:cds:p.G125R (human)
CTD Direct Evidence: marker/mechanism
OMIM:142900
ClinVar Annotator: match by term: Heart-hand syndrome, type 1 | ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:9536098 More... RGD:7327217, RGD:7327219, RGD:1578428 NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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 chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Holt-Oram syndrome 3
        heart-hand syndrome type 3 0
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        Congenital Abnormalities 7748
          Cardiovascular Abnormalities 1585
            congenital heart disease 1385
              heart septal defect 221
                atrial heart septal defect 127
                  Holt-Oram syndrome 3
                    heart-hand syndrome type 3 0
paths to the root