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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;   HOS;   HOS1;   Heart-Hand Syndrome, Type 1;   Heart-hand syndrome;   Wildervanck syndrome;   atriodigital dysplasia;   ventriculo-radial syndrome
 primary_id: MESH:C535326
 alt_id: OMIM:142900
 xref: GARD:6666;   ICD10CM:Q87.2;   NCI:C125592;   ORDO:392
For additional species annotation, visit the Alliance of Genome Resources.


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Holt-Oram syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:22772368 PMID:23102774 PMID:26854089 PMID:28492532 NCBI chr13:97,626,451...97,657,901
Ensembl chr13:97,626,451...97,657,867
JBrowse link
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 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 ClinVar Annotator: match by term: Holt-Oram syndrome
ClinVar Annotator: match by OMIM:142900
DNA:missense mutations, deletion:cds:multiple
DNA:missense mutation:cds:p.G125R (human)
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 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:1631557 PMID:3476488 PMID:8819159 PMID:9536098 PMID:16199547 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 17207
    syndrome 8126
      Holt-Oram syndrome 4
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Cardiovascular Abnormalities 1138
            congenital heart disease 1080
              heart septal defect 134
                atrial heart septal defect 82
                  Holt-Oram syndrome 4
paths to the root