Human Phenotype Ontology

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 uterus (HP:0000130)

Parent Node:
Abnormal uterus morphology (HP:0031105)

..Starting node
..Uterine rupture (HP:0100718)

Term ID:

100718

Name:

Uterine rupture

Synonym:

Definition:

Comments:

Reference:

HP:0100718

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal endometrium morphology (HP:0030126)

Bicornuate uterus (HP:0000813)

Bifid uterus (HP:0000136)

Enlarged uterus (HP:0100878)

T-shaped uterus (HP:0031106)

Uterine neoplasm (HP:0010784)

Uterine prolapse (HP:0000139)

Uterine synechiae (HP:0030712)

Uterus didelphys (HP:0003762)

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:0100718	HP:0100718	Uterine rupture	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0100718	HP:0100718	Uterine rupture	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0100718	HP:0100718	Uterine rupture	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent
HP:0100718	HP:0100718	Uterine rupture	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0100718	HP:0100718	Uterine rupture	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent	239
HP:0100718	HP:0100718	Uterine rupture	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent	253

Genes (5) :COL3A1 IPO8 NDP TGFBR1 TGFBR2

Diseases (4) :OMIM:130050 ORPHA:286 ORPHA:60030 ORPHA:649

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