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:
Abnormality of fluid regulation (HP:0011032)

Parent Node:
Edema (HP:0000969)

..Starting node
..Peripheral edema (HP:0012398)

Term ID:

12398

Name:

Peripheral edema

Synonym:

Peripheral oedema

Definition:

An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.

Comments:

Reference:

HP:0012398

Genes and Diseases:

Child Nodes:

Sister Nodes:

Angioedema (HP:0100665)

Cerebral edema (HP:0002181)

Corneal stromal edema (HP:0012040)

Edema of the dorsum of feet (HP:0012098)

Edema of the dorsum of hands (HP:0007514)

Edema of the upper limbs (HP:0010742)

Facial edema (HP:0000282)

Generalized edema (HP:0007430)

Genital edema (HP:0031188)

Hydrops fetalis (HP:0001789)

Hyperkeratosis over edematous areas (HP:0007448)

Hypoproteinemic edema (HP:0007609)

Increased nuchal translucency (HP:0010880)

Intestinal edema (HP:0005225)

Joint swelling (HP:0001386)

Laryngeal edema (HP:0012027)

Lymphedema (HP:0001004)

Macular edema (HP:0040049)

Muscular edema (HP:0100748)

Peau d'orange (HP:0025533)

Pedal edema (HP:0010741)

Pharyngeal edema (HP:0011855)

Pleural effusion (HP:0002202)

Pulmonary edema (HP:0100598)

Tongue edema (HP:0040315)

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:0012398	HP:0012398	Peripheral edema	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional	3
HP:0012398	HP:0012398	Peripheral edema	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	197
HP:0012398	HP:0012398	Peripheral edema	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040283 - Occasional	50
HP:0012398	HP:0012398	Peripheral edema	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	276
HP:0012398	HP:0012398	Peripheral edema	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0012398	HP:0012398	Peripheral edema	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	217
HP:0012398	HP:0012398	Peripheral edema	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7
HP:0012398	HP:0012398	Peripheral edema	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0012398	HP:0012398	Peripheral edema	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	180
HP:0012398	HP:0012398	Peripheral edema	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional	248
HP:0012398	HP:0012398	Peripheral edema	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	1

Genes (11) :EPHB4 FLNC FSHR KIF1A KIF20A MYPN SLC34A2 TLL1 TNNI3 TNNT2 ZNHIT3

Diseases (6) :ORPHA:90186 ORPHA:75249 ORPHA:64739 ORPHA:2836 ORPHA:60025 ORPHA:99106

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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