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:
Hernia (HP:0100790)

Parent Node:
Abnormal uterus morphology (HP:0031105)

Parent Node:
Genital hernia (HP:0100823)

..Starting node
..Uterine prolapse (HP:0000139)

Term ID:

139

Name:

Uterine prolapse

Synonym:

Sagging uterus

Definition:

The presence of prolapse of the uterus.

Comments:

Reference:

HP:0000139

Genes and Diseases:

Child Nodes:

Sister Nodes:

Vaginal hernia (HP:0100672)

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:0000139	HP:0000139	Uterine prolapse	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0000139	HP:0000139	Uterine prolapse	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0000139	HP:0000139	Uterine prolapse	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0000139	HP:0000139	Uterine prolapse	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0000139	HP:0000139	Uterine prolapse	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0000139	HP:0000139	Uterine prolapse	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0000139	HP:0000139	Uterine prolapse	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000139	HP:0000139	Uterine prolapse	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0000139	HP:0000139	Uterine prolapse	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (7) :COL1A1 COL3A1 COL5A1 COL5A2 ELN RPS6KA3 SMAD3

Diseases (7) :ORPHA:287 OMIM:130050 ORPHA:286 OMIM:123700 OMIM:303600 ORPHA:284984 OMIM:613795

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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