Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Arterial dissection
go back to main search page
Accession:HP:0005294 term browser browse the term
Definition:A separation (dissection) of the layers of an artery.
Synonyms:narrow_synonym: cervical artery dissection
 xref: EFO:1000059;   SNOMEDCT_US:233992003;   SNOMEDCT_US:26845001;   SNOMEDCT_US:710864009;   SNOMEDCT_US:9406001;   UMLS:C0002949


show annotations for term's descendants           Sort by:
Arterial dissection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP ClinVar Annotator: match by term: Arterial dissection HPO
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Arterial dissection ClinVar NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G GATA5 GATA binding protein 5 IAGP ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:28492532 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G IPO8 importin 8 IAGP HPO ORPHA:60030 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 susceptibility IAGP DNA:SNP:intron:g.13,011,943 >G (rs9349379) RGD PMID:25420145 RGD:401900170 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by term: Arterial dissection ClinVar PMID:28492532 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:60030 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Arterial dissection ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:284984 ORPHA:60030 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:60030 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:60030 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:60030 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:60030 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of the cardiovascular system 15812
        Abnormal cardiovascular system morphology 8672
          Abnormal vascular morphology 7121
            Abnormal blood vessel morphology 6067
              Abnormal systemic arterial morphology 5338
                Arterial dissection 33
                  Extracranial internal carotid artery dissection 0
paths to the root