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:
Prenatal maternal abnormality (HP:0002686)

Parent Node:
Toxemia of pregnancy (HP:0100603)

..Starting node
..Eclampsia (HP:0100601)

Term ID:

100601

Name:

Eclampsia

Synonym:

Definition:

An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.

Comments:

Reference:

HP:0100601

Genes and Diseases:

Child Nodes:

Sister Nodes:

Maternal hypertension (HP:0008071)

Preeclampsia (HP:0100602)

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:0100601	HP:0100601	Eclampsia	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0100601	HP:0100601	Eclampsia	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0100601	HP:0100601	Eclampsia	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0100601	HP:0100601	Eclampsia	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0100601	HP:0100601	Eclampsia	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0100601	HP:0100601	Eclampsia	0	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.	8
HP:0100601	HP:0100601	Eclampsia	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0100601	HP:0100601	Eclampsia	0	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4	.	2

Genes (8) :CD46 CFH CFI HELLPAR LMNA NOS3 PPARG STOX1

Diseases (5) :ORPHA:244242 ORPHA:2348 OMIM:189800 ORPHA:79083 OMIM:609404

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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