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:
Abnormal autonomic nervous system physiology (HP:0012332)

Parent Node:
obsolete Dysautonomia (HP:0002459)

..Starting node
..Autonomic bladder dysfunction (HP:0005341)

Term ID:

5341

Name:

Autonomic bladder dysfunction

Synonym:

Definition:

Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.

Comments:

Reference:

HP:0005341

Genes and Diseases:

Child Nodes:

Sister Nodes:

Autonomic erectile dysfunction (HP:0008652)

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:0005341	HP:0005341	Autonomic bladder dysfunction	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0005341	HP:0005341	Autonomic bladder dysfunction	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0005341	HP:0005341	Autonomic bladder dysfunction	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0005341	HP:0005341	Autonomic bladder dysfunction	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0005341	HP:0005341	Autonomic bladder dysfunction	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138

Genes (3) :COQ2 LMNB1 POLR3A

Diseases (5) :ORPHA:227510 ORPHA:98933 ORPHA:99027 OMIM:169500 ORPHA:447896

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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