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
..Hyperpigmented papule (HP:0025473)

Term ID:

25473

Name:

Hyperpigmented papule

Synonym:

Definition:

A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.

Comments:

Reference:

HP:0025473

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythematous papule (HP:0030350)

Gottron's papules (HP:0025508)

Hyperkeratotic papule (HP:0045059)

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:0025473	HP:0025473	Hyperpigmented papule	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0025473	HP:0025473	Hyperpigmented papule	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0025473	HP:0025473	Hyperpigmented papule	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0025473	HP:0025473	Hyperpigmented papule	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0025473	HP:0025473	Hyperpigmented papule	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0025473	HP:0025473	Hyperpigmented papule	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0025473	HP:0025473	Hyperpigmented papule	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2

Genes (7) :FLNA IDH1 KIT KRT5 POFUT1 POGLUT1 PSENEN

Diseases (4) :ORPHA:88630 ORPHA:99646 ORPHA:79455 ORPHA:79145

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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