Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 prenatal development or birth (HP:0001197)

Parent Node:
Abnormal delivery (HP:0001787)

..Starting node
..Premature rupture of membranes (HP:0001788)

Term ID:

1788

Name:

Premature rupture of membranes

Synonym:

Definition:

Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.

Comments:

Reference:

HP:0001788

Genes and Diseases:

Child Nodes:

........

Premature birth following premature rupture of fetal membranes (HP:0005100)

Sister Nodes:

Breech presentation (HP:0001623)

Caesarian section (HP:0011410)

Cephalohematoma (HP:0012541)

Delivery by Odon device (HP:0030366)

Forceps delivery (HP:0011411)

Induced vaginal delivery (HP:0030369)

Miscarriage (HP:0005268)

Nuchal cord (HP:0012498)

Shoulder dystocia (HP:0011413)

Therapeutic abortion (HP:0030449)

Vaginal birth after Caesarian (HP:0030365)

Ventouse delivery (HP:0011412)

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:0001788	HP:0001788	Premature rupture of membranes	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0001788	HP:0001788	Premature rupture of membranes	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0001788	HP:0001788	Premature rupture of membranes	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0001788	HP:0001788	Premature rupture of membranes	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0001788	HP:0001788	Premature rupture of membranes	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0001788	HP:0001788	Premature rupture of membranes	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0001788	HP:0001788	Premature rupture of membranes	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0001788	HP:0001788	Premature rupture of membranes	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0001788	HP:0001788	Premature rupture of membranes	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001788	HP:0001788	Premature rupture of membranes	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0001788	HP:0001788	Premature rupture of membranes	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0001788	HP:0001788	Premature rupture of membranes	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001788	HP:0001788	Premature rupture of membranes	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0001788	HP:0001788	Premature rupture of membranes	0	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes	.	52
HP:0001788	HP:0001788	Premature rupture of membranes	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0001788	HP:0005100	Premature birth following premature rupture of fetal membranes	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660

Genes (13) :ADAMTS2 ATP6V0A2 COL1A1 COL3A1 COL5A1 COL5A2 DEF6 FGFR3 LEMD2 MED12 PLOD1 SERPINH1 ZMPSTE24

Diseases (13) :OMIM:225410 OMIM:278250 ORPHA:2834 ORPHA:287 OMIM:618343 OMIM:130000 OMIM:619573 OMIM:100800 OMIM:619322 OMIM:301068 OMIM:225400 OMIM:610504 OMIM:275210

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen