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

Human Phenotype Ontology

Grandparent Node:
Epidermal thickening (HP:0011368)

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Parent Node:
Hyperkeratosis (HP:0000962)

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..Starting node
..Epidermal hyperkeratosis (HP:0007543)

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Term ID:

7543

Name:

Epidermal hyperkeratosis

Synonym:

Increased thickness of skin epidermis

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

Sister Nodes:

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Circumungual hyperkeratosis (HP:0008399)

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Cobblestone-like hyperkeratosis (HP:0031288)

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Follicular hyperkeratosis (HP:0007502)

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Generalized hyperkeratosis (HP:0005595)

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Gingival hyperkeratosis (HP:0000222)

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Hyperkeratosis lenticularis perstans (HP:0007570)

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Hyperkeratosis over edematous areas (HP:0007448)

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Hyperkeratosis with erythema (HP:0007390)

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Hyperkeratotic papule (HP:0045059)

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Hyperparakeratosis (HP:0040009)

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Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490)

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obsolete Hyperkeratosis pilaris (HP:0040180)

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Orthokeratotic hyperkeratosis (HP:0025080)

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Palmar hyperkeratosis (HP:0010765)

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Palmoplantar keratoderma (HP:0000982)

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Perifollicular hyperkeratosis (HP:0007468)

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Plantar hyperkeratosis (HP:0007556)

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Streaks of hyperkeratosis along each finger onto the palm (HP:0007501)

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Subungual hyperkeratosis (HP:0008392)

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Subungual hyperkeratotic fragments (HP:0008410)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3				276
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34				62
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia				68
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma				100
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma				27
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma				66
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent			645
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.			7
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent			83
HP:0007543	HP:0007543	Epidermal hyperkeratosis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.			83

Genes (9) :BRAF ELOVL4 GJA1 KRT1 KRT16 KRT9 LMNA SOX18 ZMPSTE24

Diseases (7) :OMIM:613707 OMIM:133190 OMIM:104100 ORPHA:2199 ORPHA:1662 OMIM:137940 OMIM:275210

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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