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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: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
For additional species annotation, visit the Alliance of Genome Resources.



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juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO DNA:mutations:exon:multiple
DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
OMIM
ClinVar
RGD
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 More... RGD:11062720, RGD:11070199 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      Hereditary Neoplastic Syndromes 1259
        juvenile polyposis syndrome 15
          juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          monogenic disease 10259
            autosomal genetic disease 9395
              autosomal dominant disease 6400
                juvenile polyposis syndrome 15
                  juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
paths to the root