Human Phenotype Ontology

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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 vagina morphology (HP:0000142)

Grandparent Node:
Genital hernia (HP:0100823)

Parent Node:
Abnormality of bladder morphology (HP:0025487)

Parent Node:
Pelvic organ prolapse (HP:0031607)

Parent Node:
Vaginal hernia (HP:0100672)

..Starting node
..Cystocele (HP:0100645)

Term ID:

100645

Name:

Cystocele

Synonym:

Bladder hernia; Bladder prolapse; Dropped bladder; Prolapsed bladder

Definition:

Anterior vaginal wall prolapse with bulging of the bladder into the vagina.

Comments:

Reference:

HP:0100645

Genes and Diseases:

Child Nodes:

Sister Nodes:

Rectocele (HP:0100822)

Urethrocele (HP:0100821)

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:0100645	HP:0100645	Cystocele	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0100645	HP:0100645	Cystocele	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0100645	HP:0100645	Cystocele	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (2) :COL3A1 SMAD3

Diseases (3) :OMIM:130050 ORPHA:286 OMIM:613795

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