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
..Nocturia (HP:0000017)

Term ID:

Name:

Nocturia

Synonym:

Nycturia

Definition:

Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.

Comments:

Reference:

HP:0000017

Genes and Diseases:

Child Nodes:

Sister Nodes:

Detrusor sphincter dyssynergia (HP:0025488)

Dysuria (HP:0100518)

Enuresis (HP:0000805)

Neurogenic bladder (HP:0000011)

Pollakisuria (HP:0100515)

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:0000017	HP:0000017	Nocturia	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0000017	HP:0000017	Nocturia	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional	80
HP:0000017	HP:0000017	Nocturia	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.	80
HP:0000017	HP:0000017	Nocturia	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0000017	HP:0000017	Nocturia	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0000017	HP:0000017	Nocturia	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0000017	HP:0000017	Nocturia	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0000017	HP:0000017	Nocturia	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0000017	HP:0000017	Nocturia	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0000017	HP:0000017	Nocturia	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0000017	HP:0000017	Nocturia	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113

Genes (9) :CLCNKB DBH PLA2G6 POLG POLG2 RRM2B SLC12A3 SLC25A4 TWNK

Diseases (6) :ORPHA:358 ORPHA:230 OMIM:223360 OMIM:612953 ORPHA:254892 OMIM:263800

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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