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ONTOLOGY REPORT - ANNOTATIONS


Term:juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
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Accession:DOID:0111543 term browser browse the term
Definition:A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in SMAD4 on chromosome 18q21.2. (DO)
Synonyms:exact_synonym: JP-HHT;   JP/HHT SYNDROME;   JPHHT Syndrome;   JPHT;   JPS/HHT;   JPSHHT;   Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia;   generalized juvenile polyposis with pulmonary arteriovenous malformation;   hereditary hemorrhagic telangiectasia with juvenile polyposis coli
 primary_id: MESH:C563412
 alt_id: OMIM:175050
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juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:11070199
RGD:11062720

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Term Annotations click to browse term
  disease 16021
    syndrome 6144
      juvenile polyposis syndrome 14
        juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
Path 2
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  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          monogenic disease 5447
            autosomal genetic disease 4411
              autosomal dominant disease 2754
                juvenile polyposis syndrome 14
                  juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.