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

Grandparent Node:
Abnormal large intestine physiology (HP:0012700)

Grandparent Node:
Impaired continence (HP:0031064)

Parent Node:
Bowel incontinence (HP:0002607)

..Starting node
..Encopresis (HP:0040183)

Term ID:

40183

Name:

Encopresis

Synonym:

Stool holding; Stool soiling

Definition:

Comments:

Reference:

HP:0040183

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:0040183	HP:0040183	Encopresis	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy	152
HP:0040183	HP:0040183	Encopresis	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities

Genes (2) :DMPK MAPK8IP3

Diseases (2) :ORPHA:589821 OMIM:618443

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