Human Phenotype Ontology

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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

..Starting node
..Pancolitis (HP:0033256)

Term ID:

33256

Name:

Pancolitis

Synonym:

Definition:

Inflammation of the entire colon.

Comments:

Reference:

HP:0033256

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033256	HP:0033256	Pancolitis	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30	1
HP:0033256	HP:0033256	Pancolitis	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25	29
HP:0033256	HP:0033256	Pancolitis	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE	13

Genes (3) :CARD8 IL10RB TGFB1

Diseases (3) :OMIM:619079 OMIM:612567 OMIM:618213

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