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
..Edema of the dorsum of feet (HP:0012098)

Term ID:

12098

Name:

Edema of the dorsum of feet

Synonym:

Edema of dorsum of feet; Oedema of dorsum of feet; Oedema of the dorsum of feet

Definition:

An abnormal accumulation of fluid beneath the skin on the back of the feet.

Comments:

Reference:

HP:0012098

Genes and Diseases:

Child Nodes:

Sister Nodes:

Angioedema (HP:0100665)

Cerebral edema (HP:0002181)

Corneal stromal edema (HP:0012040)

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)

Peripheral edema (HP:0012398)

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:0012098	HP:0012098	Edema of the dorsum of feet	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0012098	HP:0012098	Edema of the dorsum of feet	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0012098	HP:0012098	Edema of the dorsum of feet	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012098	HP:0012098	Edema of the dorsum of feet	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent	98
HP:0012098	HP:0012098	Edema of the dorsum of feet	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1

Genes (5) :PLAA RBM8A RNF13 TGM1 ZNHIT3

Diseases (5) :ORPHA:521426 OMIM:274000 ORPHA:544503 ORPHA:281127 OMIM:260565

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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