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:
Abnormal delivery (HP:0001787)

Parent Node:
Miscarriage (HP:0005268)

..Starting node
..Recurrent spontaneous abortion (HP:0200067)

Term ID:

200067

Name:

Recurrent spontaneous abortion

Synonym:

Spontaneous abortion, recurrent

Definition:

Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.

Comments:

Reference:

HP:0200067

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0200067	HP:0200067	Recurrent spontaneous abortion	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	ANXA5 CL E G H	308	543	OMIM:614391	Pregnancy loss, recurrent, susceptibility to, 3	.	1
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional	28
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	60
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional	32
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	F2 CL E G H	2147	3535	OMIM:614390	Pregnancy loss, recurrent, susceptibility to, 2	.	44
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	F5 CL E G H	2153	3542	OMIM:614389	Pregnancy loss, recurrent, susceptibility to, 1	.	159
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent	HP:0040283 - Occasional	2
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0200067	HP:0200067	Recurrent spontaneous abortion	0	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4	.	12

Genes (12) :ABCC6 ANXA5 C11ORF80 ENPP1 F12 F13A1 F13B F2 F5 HTR1A SERPINC1 SYCP3

Diseases (10) :ORPHA:51608 OMIM:614391 OMIM:618432 ORPHA:330 ORPHA:331 OMIM:614390 OMIM:614389 OMIM:614674 ORPHA:82 OMIM:270960

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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