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
..Pollakisuria (HP:0100515)

Term ID:

100515

Name:

Pollakisuria

Synonym:

Constant urination; Frequent urination

Definition:

Increased frequency of urination.

Comments:

Reference:

HP:0100515

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)

Spastic/hyperactive bladder (HP:0005340)

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:0100515	HP:0100515	Pollakisuria	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0100515	HP:0100515	Pollakisuria	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0100515	HP:0100515	Pollakisuria	0	BNC2 CL E G H	54796	30988	OMIM:618612	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO		22
HP:0100515	HP:0100515	Pollakisuria	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040284 - Very rare	600
HP:0100515	HP:0100515	Pollakisuria	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0100515	HP:0100515	Pollakisuria	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0100515	HP:0100515	Pollakisuria	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent	30
HP:0100515	HP:0100515	Pollakisuria	0	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3	HP:0040281 - Very frequent	83
HP:0100515	HP:0100515	Pollakisuria	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040282 - Frequent	706

Genes (8) :ALDH18A1 BNC2 DYSF FA2H FAR1 FMR1 HOGA1 NBN

Diseases (8) :ORPHA:447753 ORPHA:447760 OMIM:618612 ORPHA:268 ORPHA:171629 ORPHA:93256 ORPHA:93600 ORPHA:647

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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