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:
Localized skin lesion (HP:0011355)

Parent Node:
Skin plaque (HP:0200035)

..Starting node
..Erythematous plaque (HP:0025474)

Term ID:

25474

Name:

Erythematous plaque

Synonym:

Violaceous plaque

Definition:

A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.

Comments:

Reference:

HP:0025474

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cutaneous sclerotic plaque (HP:0031359)

Urticarial plaque (HP:0030351)

Yellow skin plaque (HP:0031360)

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:0025474	HP:0025474	Erythematous plaque	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0025474	HP:0025474	Erythematous plaque	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0025474	HP:0025474	Erythematous plaque	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0025474	HP:0025474	Erythematous plaque	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0025474	HP:0025474	Erythematous plaque	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0025474	HP:0025474	Erythematous plaque	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent	35
HP:0025474	HP:0025474	Erythematous plaque	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent	281
HP:0025474	HP:0025474	Erythematous plaque	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0025474	HP:0025474	Erythematous plaque	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0025474	HP:0025474	Erythematous plaque	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent	129
HP:0025474	HP:0025474	Erythematous plaque	0	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6		124

Genes (11) :CARD14 COL2A1 COL7A1 EBP HAVCR2 LDHA MEFV MPDU1 RASA1 SDHD TRPM4

Diseases (11) :OMIM:173200 ORPHA:485 ORPHA:158673 ORPHA:35173 ORPHA:86884 ORPHA:284426 ORPHA:3243 ORPHA:79323 ORPHA:90307 ORPHA:100093 OMIM:618531

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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