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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		 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: 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 18969
    syndrome 10886
      Holt-Oram syndrome 3
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        Congenital Abnormalities 7577
          Cardiovascular Abnormalities 1548
            congenital heart disease 1349
              heart septal defect 215
                atrial heart septal defect 121
                  Holt-Oram syndrome 3
paths to the root