Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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
..Dysuria (HP:0100518)

Term ID:

100518

Name:

Dysuria

Synonym:

Dull burning sensation with urination; Painful or difficult urination

Definition:

Painful or difficult urination.

Comments:

Reference:

HP:0100518

Genes and Diseases:

Child Nodes:

Sister Nodes:

Detrusor sphincter dyssynergia (HP:0025488)

Enuresis (HP:0000805)

Neurogenic bladder (HP:0000011)

Nocturia (HP:0000017)

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:0100518	HP:0100518	Dysuria	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040282 - Frequent	260
HP:0100518	HP:0100518	Dysuria	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional	95
HP:0100518	HP:0100518	Dysuria	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0100518	HP:0100518	Dysuria	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040282 - Frequent	19
HP:0100518	HP:0100518	Dysuria	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare	22
HP:0100518	HP:0100518	Dysuria	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0100518	HP:0100518	Dysuria	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	3
HP:0100518	HP:0100518	Dysuria	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040283 - Occasional	5
HP:0100518	HP:0100518	Dysuria	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0100518	HP:0100518	Dysuria	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare	81
HP:0100518	HP:0100518	Dysuria	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0100518	HP:0100518	Dysuria	0	HOGA1 CL E G H	112817	25155	ORPHA:93600	Primary hyperoxaluria type 3	HP:0040281 - Very frequent	83
HP:0100518	HP:0100518	Dysuria	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0100518	HP:0100518	Dysuria	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0100518	HP:0100518	Dysuria	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0100518	HP:0100518	Dysuria	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0100518	HP:0100518	Dysuria	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0100518	HP:0100518	Dysuria	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0100518	HP:0100518	Dysuria	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	389

Genes (18) :AGXT AIP ALMS1 APRT BNC2 CARMIL2 CISD2 GPR101 HLA-B HMBS HOGA1 HPRT1 IKZF1 LAMA3 LAMB3 LAMC2 SPART WFS1

Diseases (14) :ORPHA:93598 ORPHA:963 ORPHA:64 ORPHA:976 ORPHA:93110 OMIM:618131 ORPHA:3463 ORPHA:36426 ORPHA:79276 OMIM:176000 ORPHA:93600 ORPHA:79233 ORPHA:79404 ORPHA:101000

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen