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:
Constitutional symptom (HP:0025142)

Parent Node:
Impairment of activities of daily living (HP:0031058)

..Starting node
..Impaired toileting ability (HP:0031061)

Term ID:

31061

Name:

Impaired toileting ability

Synonym:

Definition:

This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.

Comments:

Reference:

HP:0031061

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired ability to bathe oneself (HP:0031059)

Impaired ability to dress oneself (HP:0031060)

Impaired continence (HP:0031064)

Impaired feeding ability (HP:0031063)

Impaired transferring ability (HP:0031062)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031061	HP:0031061	Impaired toileting ability	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0031061	HP:0031061	Impaired toileting ability	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS

Genes (2) :DPYSL5 PIGF

Diseases (2) :OMIM:619435 OMIM:619356

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