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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 chr13:104,049,263...104,080,680
Ensembl chr13:104,049,386...104,080,631
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 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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:8988164, PMID:8988165, PMID:10077612, PMID:10077762, PMID:10842287, PMID:11431700, PMID:11555635, PMID:12499378, PMID:12624158, PMID:12789647, PMID:12818525, PMID:15710732, PMID:15735645, PMID:16183809, PMID:16380715, PMID:17534187, PMID:18706711, PMID:19648116, PMID:20450920, PMID:20519243, PMID:21637475, PMID:21897873, PMID:22333898, PMID:24033266, PMID:24664498, PMID:25260786, PMID:25263169, PMID:25623069, PMID:25680289, PMID:25741868, PMID:25931334, PMID:26219450, PMID:26401820, PMID:26762269, PMID:26859351, PMID:26938784, PMID:28492532, PMID:29755943, PMID:20519243, PMID:18451335, PMID:11572777 RGD:7327217, RGD:7327219, RGD:1578428 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
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:22772368, PMID:22772371, PMID:23102774, PMID:24033266, PMID:24440784, PMID:24465802, PMID:25046559, PMID:25644172, PMID:25741868, PMID:26017485, PMID:26854089, PMID:27782106, PMID:28468283, PMID:28492532, PMID:28633253, PMID:28655553, PMID:29392890, PMID:29510914, PMID:30311386, PMID:31191903 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Holt-Oram syndrome 4
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              heart septal defect 151
                atrial heart septal defect 95
                  Holt-Oram syndrome 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.