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
..Detrusor sphincter dyssynergia (HP:0025488)

Term ID:

25488

Name:

Detrusor sphincter dyssynergia

Synonym:

Definition:

A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.

Comments:

Reference:

HP:0025488

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysuria (HP:0100518)

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:0025488	HP:0025488	Detrusor sphincter dyssynergia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0025488	HP:0025488	Detrusor sphincter dyssynergia	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36

Genes (2) :ALMS1 FARS2

Diseases (2) :ORPHA:64 ORPHA:466722

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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