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ONTOLOGY REPORT - ANNOTATIONS


Term:Holt-Oram syndrome
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Accession:DOID:0060468 term browser browse the term
Definition:An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb. (DO)
Synonyms:exact_synonym: Atrio-Digital Syndrome;   Atriodigital dysplasia;   Cardiac-Limb Syndrome;   Cervico-Oculo-Acoustic Syndrome;   HOS;   HOS1;   Heart-Hand Syndrome, Type 1;   Heart-hand syndrome;   Ventriculo-Radial Syndrome;   Wildervanck syndrome
 primary_id: MESH:C535326;   RDO:0000379
 alt_id: OMIM:142900
 xref: GARD:6666;   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 JBrowse Chr Start Stop Reference
G Lyplal1 lysophospholipase-like 1 JBrowse link 13 104,049,263 104,080,680 RGD:8554872
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556209
RGD:11554173
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:7240710
RGD:8554872
RGD:7327217
RGD:7327219
RGD:1578428
RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Holt-Oram syndrome 4
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        Congenital Abnormalities 3598
          Cardiovascular Abnormalities 916
            congenital heart disease 863
              heart septal defect 171
                atrial heart septal defect 58
                  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.