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:Crohn's disease
go back to main search page
Accession:HP:0100280 term browser browse the term
Definition:A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Synonyms:exact_synonym: Granulomatous enteritis and colitis;   Morbus Crohn
 xref: EFO:0000384;   SNOMEDCT_US:34000006;   UMLS:C0010346


show annotations for term's descendants           Sort by:
Crohn's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACH2 BTB domain and CNC homolog 2 IAGP HPO MIM:618394 NCBI chr 6:89,926,528...90,296,843
Ensembl chr 6:89,926,528...90,296,843 		JBrowse link
G CARD10 caspase recruitment domain family member 10 IAGP HPO MIM:619632 NCBI chr22:37,490,362...37,519,415
Ensembl chr22:37,490,362...37,519,542 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO MIM:616100 ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO MIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G CYLD-AS1 CYLD antisense RNA 1 IAGP ClinVar Annotator: match by term: Crohn's disease ClinVar PMID:11385576 PMID:11385577 PMID:11425413 PMID:11910337 PMID:12019468 More... NCBI chr16:50,727,415...50,742,747
Ensembl chr16:50,727,417...50,742,815 		JBrowse link
G DOCK11 dedicator of cytokinesis 11 IAGP HPO MIM:301109 NCBI chr  X:118,495,815...118,686,147
Ensembl chr  X:118,495,815...118,686,163 		JBrowse link
G FMNL2 formin like 2 IAGP ClinVar Annotator: match by term: Crohn's disease ClinVar NCBI chr 2:152,335,174...152,649,826
Ensembl chr 2:152,335,174...152,649,826 		JBrowse link
G FNIP1 folliculin interacting protein 1 IAGP HPO MIM:619705 NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017 		JBrowse link
G GUCY2C guanylate cyclase 2C IAGP HPO MIM:614616 NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP HPO MIM:613148 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037 		JBrowse link
G IL21 interleukin 21 IAGP HPO MIM:615767 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G IL6 interleukin 6 IAGP HPO MIM:266600 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INAVA innate immunity activator IAGP HPO MIM:618077 NCBI chr 1:200,891,531...200,915,742
Ensembl chr 1:200,891,048...200,915,742 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO MIM:249100 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP ClinVar Annotator: match by term: Crohn's disease
ClinVar Annotator: match by term: Morbus Crohn		 ClinVar
HPO		 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 More... MIM:266600 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO MIM:619621 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO ORPHA:69126 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility IAGP associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) RGD PMID:26084578 RGD:25671421 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G SYK spleen associated tyrosine kinase IAGP HPO MIM:619381 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549 		JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP HPO ORPHA:538934 NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the digestive system 10594
        Abnormality of the gastrointestinal tract 7675
          Functional abnormality of the gastrointestinal tract 4506
            Gastrointestinal inflammation 2924
              Crohn's disease 1092
Path 2
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the immune system 10737
        Abnormality of immune system physiology 8024
          Abnormal inflammatory response 5906
            Increased inflammatory response 5879
              Gastrointestinal inflammation 2924
                Crohn's disease 1092
paths to the root