Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormality of skin morphology (HP:0011121)

Parent Node:
Abnormal epidermal morphology (HP:0011124)

..Starting node
..Epidermal acanthosis (HP:0025092)

Term ID:

25092

Name:

Epidermal acanthosis

Synonym:

Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin

Definition:

Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).

Comments:

Reference:

HP:0025092

Genes and Diseases:

Child Nodes:

........

Sawtooth acanthosis (HP:0025122)

Sister Nodes:

Acantholysis (HP:0100792)

Civatte bodies (HP:0025115)

Rete ridge flattening (HP:0025117)

Scaling skin (HP:0040189)

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:0025092	HP:0025092	Epidermal acanthosis	0	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0025092	HP:0025092	Epidermal acanthosis	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040282 - Frequent	7
HP:0025092	HP:0025092	Epidermal acanthosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0025092	HP:0025092	Epidermal acanthosis	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0025092	HP:0025092	Epidermal acanthosis	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0025092	HP:0025092	Epidermal acanthosis	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis	.	86
HP:0025092	HP:0025092	Epidermal acanthosis	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040281 - Very frequent	86
HP:0025092	HP:0025092	Epidermal acanthosis	0	CARD14 CL E G H	79092	16446	OMIM:602723	PSORIASIS 2; PSORS2		33
HP:0025092	HP:0025092	Epidermal acanthosis	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.	4
HP:0025092	HP:0025092	Epidermal acanthosis	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0025092	HP:0025092	Epidermal acanthosis	0	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9	.	5
HP:0025092	HP:0025092	Epidermal acanthosis	0	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3	.
HP:0025092	HP:0025092	Epidermal acanthosis	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.	11
HP:0025092	HP:0025092	Epidermal acanthosis	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040282 - Frequent	2
HP:0025092	HP:0025092	Epidermal acanthosis	0	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4	HP:0040283 - Occasional	4
HP:0025092	HP:0025092	Epidermal acanthosis	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5	.	54
HP:0025092	HP:0025092	Epidermal acanthosis	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0025092	HP:0025092	Epidermal acanthosis	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0025092	HP:0025092	Epidermal acanthosis	0	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II	.	747
HP:0025092	HP:0025092	Epidermal acanthosis	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0025092	HP:0025092	Epidermal acanthosis	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0025092	HP:0025092	Epidermal acanthosis	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease	.	151
HP:0025092	HP:0025092	Epidermal acanthosis	0	EXPH5 CL E G H	23086	30578	OMIM:615028	Epidermolysis bullosa, nonspecific, autosomal recessive	.	2
HP:0025092	HP:0025092	Epidermal acanthosis	0	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3	.	68
HP:0025092	HP:0025092	Epidermal acanthosis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0025092	HP:0025092	Epidermal acanthosis	0	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1	.	74
HP:0025092	HP:0025092	Epidermal acanthosis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0025092	HP:0025092	Epidermal acanthosis	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.	33
HP:0025092	HP:0025092	Epidermal acanthosis	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0025092	HP:0025092	Epidermal acanthosis	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0025092	HP:0025092	Epidermal acanthosis	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0025092	HP:0025092	Epidermal acanthosis	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4	.	4
HP:0025092	HP:0025092	Epidermal acanthosis	0	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0025092	HP:0025092	Epidermal acanthosis	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0025092	HP:0025092	Epidermal acanthosis	0	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0025092	HP:0025092	Epidermal acanthosis	0	KRT13 CL E G H	3860	6415	OMIM:615785	White sponge nevus 2	.	46
HP:0025092	HP:0025092	Epidermal acanthosis	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0025092	HP:0025092	Epidermal acanthosis	0	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	.	4
HP:0025092	HP:0025092	Epidermal acanthosis	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0025092	HP:0025092	Epidermal acanthosis	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0025092	HP:0025092	Epidermal acanthosis	0	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8	.	1
HP:0025092	HP:0025092	Epidermal acanthosis	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0025092	HP:0025092	Epidermal acanthosis	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0025092	HP:0025092	Epidermal acanthosis	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6	.	60
HP:0025092	HP:0025092	Epidermal acanthosis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0025092	HP:0025092	Epidermal acanthosis	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.	37
HP:0025092	HP:0025092	Epidermal acanthosis	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0025092	HP:0025092	Epidermal acanthosis	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0025092	HP:0025092	Epidermal acanthosis	0	POGLUT1 CL E G H	56983	22954	OMIM:615696	Dowling-Degos disease 4	.	6
HP:0025092	HP:0025092	Epidermal acanthosis	0	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type	.	4
HP:0025092	HP:0025092	Epidermal acanthosis	0	SERPINB8 CL E G H	5271	8952	OMIM:617115	Peeling skin syndrome 5	.	3
HP:0025092	HP:0025092	Epidermal acanthosis	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0025092	HP:0025092	Epidermal acanthosis	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0025092	HP:0025092	Epidermal acanthosis	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome	.	6
HP:0025092	HP:0025092	Epidermal acanthosis	0	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome	.	6
HP:0025092	HP:0025092	Epidermal acanthosis	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040281 - Very frequent	98
HP:0025092	HP:0025092	Epidermal acanthosis	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	.	98
HP:0025092	HP:0025092	Epidermal acanthosis	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.	71
HP:0025092	HP:0025092	Epidermal acanthosis	0	ZNF750 CL E G H	79755	25843	OMIM:610227	Seborrhea-Like dermatitis with psoriasiform elements		2
HP:0025092	HP:0025122	Sawtooth acanthosis	1	CL E G H

Genes (53) :AAGAB AKT1 ALOX12B ALOXE3 ATP2A2 CARD14 CAST CDSN CERS3 CIB1 CLDN1 COL14A1 CSTA CYP4F22 DSC3 DSG1 DSP EGFR ELOVL1 ENPP1 EXPH5 GJA1 GJB2 GJB3 GJB6 GRHL2 IL1RN IL36RN JUP KDSR KRT1 KRT10 KRT13 KRT16 KRT6C KRT74 KRT9 LIPN LORICRIN MBTPS2 NIPAL4 NLRP1 NSDHL PERP POGLUT1 SERPINB7 SERPINB8 SLC27A4 SLURP1 SMARCAD1 TGM1 WNT10A ZNF750

Diseases (52) :OMIM:148600 ORPHA:79501 OMIM:176920 OMIM:242100 OMIM:101900 ORPHA:79151 OMIM:602723 OMIM:616295 ORPHA:90368 OMIM:615023 OMIM:618267 OMIM:607626 OMIM:607936 OMIM:604777 OMIM:613102 OMIM:148700 OMIM:612908 OMIM:616069 OMIM:618527 OMIM:615522 OMIM:615028 OMIM:617525 ORPHA:477 OMIM:133200 OMIM:616029 OMIM:612852 OMIM:614204 OMIM:601214 OMIM:617526 OMIM:113800 ORPHA:2199 OMIM:615785 OMIM:615735 OMIM:613943 ORPHA:79395 OMIM:300918 OMIM:612281 OMIM:617388 OMIM:615225 OMIM:308050 OMIM:619208 OMIM:615696 OMIM:615598 OMIM:617115 OMIM:608649 ORPHA:87503 OMIM:129200 OMIM:181600 ORPHA:100976 OMIM:242300 OMIM:257980 OMIM:610227

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen