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:
Abnormality of prenatal development or birth (HP:0001197)

Parent Node:
Premature birth (HP:0001622)

..Starting node
..Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)

Term ID:

5267

Name:

Premature delivery because of cervical insufficiency or membrane fragility

Synonym:

Definition:

Comments:

Reference:

HP:0005267

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0005267	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0005267	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0005267	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83

Genes (3) :COL3A1 LMNA ZMPSTE24

Diseases (2) :OMIM:130050 ORPHA:1662

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