Human Phenotype Ontology

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

..Starting node
..Mucoid diarrhea (HP:0033343)

Term ID:

33343

Name:

Mucoid diarrhea

Synonym:

Mucous diarrhea; Mucous diarrhoea

Definition:

Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.

Comments:

Reference:

HP:0033343

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:0033343	HP:0033343	Mucoid diarrhea	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11	3

Genes (1) :IL21

Diseases (1) :OMIM:615767

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