ONTOLOGY REPORT - ANNOTATIONS


Term:Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia
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Accession:DOID:9004184 term browser browse the term
Synonyms:exact_synonym: JP/HHT SYNDROME;   JPHHT Syndrome;   JPHT;   JPS/HHT;   JPSHHT;   Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome;   Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation;   Telangiectasia, Hereditary Hemorrhagic, with Juvenile Polyposis Coli
 primary_id: MESH:C563412
 alt_id: OMIM:175050;   RDO:0012674
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Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:11070199
RGD:11062720

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    syndrome 4713
      juvenile polyposis syndrome 14
        Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia 2
Path 2
Term Annotations click to browse term
  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        genetic disease 6388
          monogenic disease 3218
            autosomal genetic disease 2156
              autosomal dominant disease 1111
                juvenile polyposis syndrome 14
                  Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.