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Familial Visceral Neuropathy - Ontology Report - Rat Genome Database

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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:Familial Visceral Neuropathy
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Accession:DOID:9000473 term browser browse the term
Synonyms:xref: MIM:PS243180

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show annotations for term's descendants           Sort by:
Familial Visceral Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Visceral neuropathy, familial ClinVar PMID:25741868 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525 		JBrowse link
autosomal dominant familial visceral neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal | ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant ClinVar PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... NCBI chr 4:117,579,513...117,604,379
Ensembl chr 4:116,021,832...116,046,465 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28292896 NCBI chr13:49,305,693...49,347,970
Ensembl chr13:46,754,033...46,794,900 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:25407000 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459 		JBrowse link
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr 3:165,742,020...165,748,409
Ensembl chr 3:145,281,937...145,288,333 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28602422 NCBI chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
Familial Visceral Neuropathy 2, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28164408 PMID:28492532 PMID:29072371 PMID:33497358 More... NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
neuronal intestinal dysplasia type A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive ClinVar
OMIM		 PMID:25741868 PMID:33497358 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            Familial Visceral Neuropathy 7
              Familial Visceral Neuropathy 2, Autosomal Recessive 1
              autosomal dominant familial visceral neuropathy 5
              neuronal intestinal dysplasia type A 1
paths to the root