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:
Abnormality of the bladder (HP:0000014)

Parent Node:
Functional abnormality of the bladder (HP:0000009)

..Starting node
..Spastic/hyperactive bladder (HP:0005340)

Term ID:

5340

Name:

Spastic/hyperactive bladder

Synonym:

Definition:

Comments:

Reference:

HP:0005340

Genes and Diseases:

Child Nodes:

Sister Nodes:

Detrusor sphincter dyssynergia (HP:0025488)

Dysuria (HP:0100518)

Enuresis (HP:0000805)

Neurogenic bladder (HP:0000011)

Nocturia (HP:0000017)

Pollakisuria (HP:0100515)

Urinary bladder sphincter dysfunction (HP:0002839)

Urinary hesitancy (HP:0000019)

Urinary incontinence (HP:0000020)

Urinary retention (HP:0000016)

Urinary urgency (HP:0000012)

Vesicoureteral reflux (HP:0000076)

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:0005340	HP:0005340	Spastic/hyperactive bladder	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare	60
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	2
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	8
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	221
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040282 - Frequent	60
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	65
HP:0005340	HP:0005340	Spastic/hyperactive bladder	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent	37

Genes (11) :DARS2 DNAJC13 EIF4G1 GBA1 GIGYF2 KIF5A LRIG2 LRRK2 PLP1 SNCA VPS35

Diseases (5) :ORPHA:137898 ORPHA:411602 ORPHA:100991 OMIM:615112 ORPHA:99015

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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