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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 ClinVar Annotator: match by OMIM:175050
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
DNA:mutations:exon:multiple
ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
OMIM
ClinVar
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10441006 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11583957 PMID:11782434 PMID:11977156 PMID:12116240 PMID:12417513 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:15754356 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20685751 PMID:21465659 PMID:21572342 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22875147 PMID:23239472 PMID:23399955 PMID:24033266 PMID:24398790 PMID:24465802 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25931195 PMID:25980754 PMID:26467025 PMID:26572829 PMID:26619011 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27562837 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28492532 PMID:28528518 PMID:28655553 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29684080 PMID:30426508 PMID:30809044 PMID:30842500 PMID:31159747 PMID:31684910 PMID:32066632 PMID:32573726, PMID:15031030, PMID:20101697 RGD:11070199, RGD:11062720 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      Hereditary Neoplastic Syndromes 912
        juvenile polyposis syndrome 15
          juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                juvenile polyposis syndrome 15
                  juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
paths to the root