Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Colitis (HP:0002583)

Parent Node:
Chronic colitis (HP:0100281)

..Starting node
..Ulcerative colitis (HP:0100279)

Term ID:

100279

Name:

Ulcerative colitis

Synonym:

Colitis ulcerosa

Definition:

A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.

Comments:

Reference:

HP:0100279

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100279	HP:0100279	Ulcerative colitis	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0100279	HP:0100279	Ulcerative colitis	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0100279	HP:0100279	Ulcerative colitis	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0100279	HP:0100279	Ulcerative colitis	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0100279	HP:0100279	Ulcerative colitis	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0100279	HP:0100279	Ulcerative colitis	0	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0100279	HP:0100279	Ulcerative colitis	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0100279	HP:0100279	Ulcerative colitis	0	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0100279	HP:0100279	Ulcerative colitis	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0100279	HP:0100279	Ulcerative colitis	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0100279	HP:0100279	Ulcerative colitis	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	HP:0040283 - Occasional	21
HP:0100279	HP:0100279	Ulcerative colitis	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0100279	HP:0100279	Ulcerative colitis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent	110
HP:0100279	HP:0100279	Ulcerative colitis	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0100279	HP:0100279	Ulcerative colitis	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65

Genes (15) :BACH2 CYBC1 GPR35 IL37 IL6 INAVA MAP3K7 MASP2 MST1 NOD2 PLCG2 SEMA4D SLC37A4 TCF4 WAS

Diseases (11) :OMIM:618394 OMIM:618935 ORPHA:171 OMIM:619398 OMIM:266600 OMIM:618077 OMIM:617137 OMIM:613791 OMIM:614878 ORPHA:79259 OMIM:301000

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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