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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 the SMAD4 gene 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 IAGP
EXP		 DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
DNA:mutations:exon:multiple
ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI		 ClinVar
OMIM
CTD
RGD		 PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... RGD:11070199, RGD:11062720 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    syndrome 18145
      Hereditary Neoplastic Syndromes 1761
        juvenile polyposis syndrome 71
          juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 35756
    Developmental Disease 28613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24648
        genetic disease 23840
          monogenic disease 18586
            autosomal genetic disease 16857
              autosomal dominant disease 10968
                juvenile polyposis syndrome 71
                  juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
paths to the root