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;   ORDO:392
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Holt-Oram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556209
RGD:11554173
G Tbx5 T-box 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
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  disease 14823
    syndrome 4218
      Holt-Oram syndrome 3
Path 2
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Cardiovascular Abnormalities 780
            congenital heart disease 729
              heart septal defect 173
                atrial heart septal defect 60
                  Holt-Oram syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.