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:
Papule (HP:0200034)

..Starting node
..Erythematous papule (HP:0030350)

Term ID:

30350

Name:

Erythematous papule

Synonym:

Red-blue papule

Definition:

A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.

Comments:

Reference:

HP:0030350

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gottron's papules (HP:0025508)

Hyperkeratotic papule (HP:0045059)

Hyperpigmented papule (HP:0025473)

Intermittent generalized erythematous papular rash (HP:0007432)

Piezogenic pedal papules (HP:0025509)

Skin-colored papule (HP:0025512)

Verrucous papule (HP:0012500)

White papule (HP:0031289)

Yellow papule (HP:0025507)

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:0030350	HP:0030350	Erythematous papule	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040283 - Occasional	263
HP:0030350	HP:0030350	Erythematous papule	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0030350	HP:0030350	Erythematous papule	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040281 - Very frequent
HP:0030350	HP:0030350	Erythematous papule	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0030350	HP:0030350	Erythematous papule	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare	110
HP:0030350	HP:0030350	Erythematous papule	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0030350	HP:0030350	Erythematous papule	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare	173
HP:0030350	HP:0030350	Erythematous papule	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent	281
HP:0030350	HP:0030350	Erythematous papule	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0030350	HP:0030350	Erythematous papule	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0030350	HP:0030350	Erythematous papule	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2

Genes (10) :COL7A1 DCLRE1C HAVCR2 KIT KRT14 KRT5 MEFV POFUT1 POGLUT1 PSENEN

Diseases (7) :ORPHA:79410 OMIM:602450 ORPHA:86884 ORPHA:79455 ORPHA:79400 ORPHA:79145 ORPHA:3243

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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