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 hands (HP:0007514)

Term ID:

7514

Name:

Edema of the dorsum of hands

Synonym:

Edema of dorsum of hands; Oedema of dorsum of hands; Oedema of the dorsum of hands

Definition:

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

Comments:

Reference:

HP:0007514

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 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:0007514	HP:0007514	Edema of the dorsum of hands	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	96
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5		5
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional	3
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	28
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	13
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6		7
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	11
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional	745
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent	64
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent	98
HP:0007514	HP:0007514	Edema of the dorsum of hands	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1

Genes (15) :ACTA1 ANGPT1 EPHB4 HS3ST6 KLHL40 KLHL41 KNG1 LMOD3 NEB PLAA RBM8A RNF13 SERPING1 TGM1 ZNHIT3

Diseases (11) :ORPHA:171430 OMIM:619361 ORPHA:90186 OMIM:619367 OMIM:619363 ORPHA:521426 OMIM:274000 ORPHA:544503 ORPHA:100050 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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