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:
Inflammation of the large intestine (HP:0002037)

Parent Node:
Colitis (HP:0002583)

..Starting node
..Chronic colitis (HP:0100281)

Term ID:

100281

Name:

Chronic colitis

Synonym:

Definition:

A chronic inflammatory disease of the large intestine (colon, cecum and rectum).

Comments:

Reference:

HP:0100281

Genes and Diseases:

Child Nodes:

........

Ulcerative colitis (HP:0100279)

Sister Nodes:

Acute colitis (HP:0100282)

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:0100281	HP:0100281	Chronic colitis	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0100281	HP:0100281	Chronic colitis	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0100281	HP:0100281	Chronic colitis	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0100281	HP:0100281	Chronic colitis	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0100281	HP:0100281	Chronic colitis	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease		2
HP:0100281	HP:0100281	Chronic colitis	0	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0100281	HP:0100281	Chronic colitis	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0100281	HP:0100281	Chronic colitis	0	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0100281	HP:0100281	Chronic colitis	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0100281	HP:0100281	Chronic colitis	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease		187
HP:0100281	HP:0100281	Chronic colitis	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0100281	HP:0100281	Chronic colitis	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0100281	HP:0100281	Chronic colitis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0100281	HP:0100281	Chronic colitis	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0100281	HP:0100281	Chronic colitis	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0100281	HP:0100279	Ulcerative colitis	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0100281	HP:0100279	Ulcerative colitis	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0100281	HP:0100279	Ulcerative colitis	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0100281	HP:0100279	Ulcerative colitis	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0100281	HP:0100279	Ulcerative colitis	1	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0100281	HP:0100279	Ulcerative colitis	1	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0100281	HP:0100279	Ulcerative colitis	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0100281	HP:0100279	Ulcerative colitis	1	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0100281	HP:0100279	Ulcerative colitis	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0100281	HP:0100279	Ulcerative colitis	1	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0100281	HP:0100279	Ulcerative colitis	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	HP:0040283 - Occasional	21
HP:0100281	HP:0100279	Ulcerative colitis	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0100281	HP:0100279	Ulcerative colitis	1	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:0100281	HP:0100279	Ulcerative colitis	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0100281	HP:0100279	Ulcerative colitis	1	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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