Human Phenotype Ontology

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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
..Yellow papule (HP:0025507)

Term ID:

25507

Name:

Yellow papule

Synonym:

Yellow-orange papule

Definition:

A papule with yellow color.

Comments:

Reference:

HP:0025507

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythematous papule (HP:0030350)

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)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025507	HP:0025507	Yellow papule	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	415
HP:0025507	HP:0025507	Yellow papule	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE	415
HP:0025507	HP:0025507	Yellow papule	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	129
HP:0025507	HP:0025507	Yellow papule	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE	14
HP:0025507	HP:0025507	Yellow papule	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE	5

Genes (4) :ABCC6 GGCX XYLT1 XYLT2

Diseases (3) :OMIM:177850 OMIM:264800 OMIM:610842

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.