Human Phenotype Ontology

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:0011124	HP:0011124	Abnormal epidermal morphology	0	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	7
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease		2
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf		86
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus		56
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CARD14 CL E G H	79092	16446	OMIM:602723	PSORIASIS 2; PSORS2		33
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CASP14 CL E G H	23581	1502	OMIM:617320	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12		1
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		4
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CHST8 CL E G H	64377	15993	OMIM:616265	Peeling skin syndrome 3		1
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis		11
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	2
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4		4
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent	2
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome		87
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige		16
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder		747
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease		257
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	EXPH5 CL E G H	23086	30578	OMIM:615028	Epidermolysis bullosa, nonspecific, autosomal recessive		2
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3		68
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome		33
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder		222
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4		4
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis		100
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis		45
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT13 CL E G H	3860	6415	OMIM:615785	White sponge nevus 2		46
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis		67
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse		4
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency		35
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8		1
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent	4
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked		22
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1		5
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	POGLUT1 CL E G H	56983	22954	OMIM:615696	Dowling-Degos disease 4		6
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5		55
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	SERPINB8 CL E G H	5271	8952	OMIM:617115	Peeling skin syndrome 5		3
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome		6
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14		4
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby		98
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis		98
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1		98
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	TGM5 CL E G H	9333	11781	OMIM:609796	Peeling skin syndrome, Acral type		44
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0011124	HP:0011124	Abnormal epidermal morphology	0	ZNF750 CL E G H	79755	25843	OMIM:610227	Seborrhea-Like dermatitis with psoriasiform elements		2
HP:0011124	HP:0025117	Rete ridge flattening	1	CL E G H
HP:0011124	HP:0025092	Epidermal acanthosis	1	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0011124	HP:0025092	Epidermal acanthosis	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040282 - Frequent	7
HP:0011124	HP:0025115	Civatte bodies	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0011124	HP:0040189	Scaling skin	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0011124	HP:0025092	Epidermal acanthosis	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0011124	HP:0025092	Epidermal acanthosis	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0011124	HP:0025092	Epidermal acanthosis	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0011124	HP:0025092	Epidermal acanthosis	1	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis	.	86
HP:0011124	HP:0025092	Epidermal acanthosis	1	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040281 - Very frequent	86
HP:0011124	HP:0100792	Acantholysis	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0011124	HP:0100792	Acantholysis	1	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus	HP:0040281 - Very frequent	56
HP:0011124	HP:0040189	Scaling skin	1	CARD14 CL E G H	79092	16446	OMIM:602723	PSORIASIS 2; PSORS2		33
HP:0011124	HP:0025092	Epidermal acanthosis	1	CARD14 CL E G H	79092	16446	OMIM:602723	PSORIASIS 2; PSORS2		33
HP:0011124	HP:0040189	Scaling skin	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0011124	HP:0040189	Scaling skin	1	CASP14 CL E G H	23581	1502	OMIM:617320	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12		1
HP:0011124	HP:0040189	Scaling skin	1	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.	4
HP:0011124	HP:0025092	Epidermal acanthosis	1	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.	4
HP:0011124	HP:0025092	Epidermal acanthosis	1	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0011124	HP:0040189	Scaling skin	1	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0011124	HP:0040189	Scaling skin	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.	7
HP:0011124	HP:0025092	Epidermal acanthosis	1	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9	.	5
HP:0011124	HP:0040189	Scaling skin	1	CHST8 CL E G H	64377	15993	OMIM:616265	Peeling skin syndrome 3		1
HP:0011124	HP:0025092	Epidermal acanthosis	1	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3	.
HP:0011124	HP:0025092	Epidermal acanthosis	1	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.	11
HP:0011124	HP:0025092	Epidermal acanthosis	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040282 - Frequent	2
HP:0011124	HP:0040189	Scaling skin	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent	4
HP:0011124	HP:0040189	Scaling skin	1	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4	.	4
HP:0011124	HP:0025092	Epidermal acanthosis	1	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4	HP:0040283 - Occasional	4
HP:0011124	HP:0025092	Epidermal acanthosis	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5	.	54
HP:0011124	HP:0040189	Scaling skin	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0011124	HP:0040189	Scaling skin	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040283 - Occasional	87
HP:0011124	HP:0025092	Epidermal acanthosis	1	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0011124	HP:0100792	Acantholysis	1	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.	16
HP:0011124	HP:0025092	Epidermal acanthosis	1	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0011124	HP:0100792	Acantholysis	1	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0011124	HP:0025092	Epidermal acanthosis	1	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II	.	747
HP:0011124	HP:0100792	Acantholysis	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0011124	HP:0040189	Scaling skin	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0011124	HP:0100792	Acantholysis	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome	.	747
HP:0011124	HP:0040189	Scaling skin	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0011124	HP:0025092	Epidermal acanthosis	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0011124	HP:0040189	Scaling skin	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0011124	HP:0025092	Epidermal acanthosis	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0011124	HP:0040189	Scaling skin	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	.	62
HP:0011124	HP:0025092	Epidermal acanthosis	1	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease	.	151
HP:0011124	HP:0025092	Epidermal acanthosis	1	EXPH5 CL E G H	23086	30578	OMIM:615028	Epidermolysis bullosa, nonspecific, autosomal recessive	.	2
HP:0011124	HP:0033806	Abnormal epidermis stratum granulosum morphology	1	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0011124	HP:0040189	Scaling skin	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011124	HP:0025092	Epidermal acanthosis	1	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3	.	68
HP:0011124	HP:0025092	Epidermal acanthosis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011124	HP:0040189	Scaling skin	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011124	HP:0025092	Epidermal acanthosis	1	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1	.	74
HP:0011124	HP:0040189	Scaling skin	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011124	HP:0025092	Epidermal acanthosis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011124	HP:0040189	Scaling skin	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011124	HP:0025092	Epidermal acanthosis	1	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	.	33
HP:0011124	HP:0100792	Acantholysis	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	4
HP:0011124	HP:0100792	Acantholysis	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	8
HP:0011124	HP:0025092	Epidermal acanthosis	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0011124	HP:0040189	Scaling skin	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011124	HP:0025092	Epidermal acanthosis	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011124	HP:0040189	Scaling skin	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0011124	HP:0100792	Acantholysis	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0011124	HP:0100792	Acantholysis	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0011124	HP:0025092	Epidermal acanthosis	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0011124	HP:0025092	Epidermal acanthosis	1	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4	.	4
HP:0011124	HP:0040189	Scaling skin	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0011124	HP:0040189	Scaling skin	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0011124	HP:0025092	Epidermal acanthosis	1	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0011124	HP:0040189	Scaling skin	1	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0011124	HP:0025092	Epidermal acanthosis	1	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0011124	HP:0040189	Scaling skin	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040283 - Occasional	100
HP:0011124	HP:0040189	Scaling skin	1	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0011124	HP:0025092	Epidermal acanthosis	1	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0011124	HP:0040189	Scaling skin	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0011124	HP:0025092	Epidermal acanthosis	1	KRT13 CL E G H	3860	6415	OMIM:615785	White sponge nevus 2	.	46
HP:0011124	HP:0025092	Epidermal acanthosis	1	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0011124	HP:0100792	Acantholysis	1	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040281 - Very frequent	67
HP:0011124	HP:0025092	Epidermal acanthosis	1	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	.	4
HP:0011124	HP:0040189	Scaling skin	1	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0011124	HP:0025092	Epidermal acanthosis	1	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0011124	HP:0025092	Epidermal acanthosis	1	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0011124	HP:0040189	Scaling skin	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent	35
HP:0011124	HP:0025092	Epidermal acanthosis	1	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8	.	1
HP:0011124	HP:0040189	Scaling skin	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0011124	HP:0025092	Epidermal acanthosis	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011124	HP:0040189	Scaling skin	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011124	HP:0040189	Scaling skin	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011124	HP:0040189	Scaling skin	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0011124	HP:0025092	Epidermal acanthosis	1	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0011124	HP:0040189	Scaling skin	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.	32
HP:0011124	HP:0040189	Scaling skin	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0011124	HP:0025092	Epidermal acanthosis	1	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6	.	60
HP:0011124	HP:0040189	Scaling skin	1	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0011124	HP:0025092	Epidermal acanthosis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011124	HP:0025092	Epidermal acanthosis	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.	37
HP:0011124	HP:0025092	Epidermal acanthosis	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0011124	HP:0040189	Scaling skin	1	OSMR CL E G H	9180	8507	OMIM:105250	Amyloidosis, primary localized cutaneous, 1	.	5
HP:0011124	HP:0025092	Epidermal acanthosis	1	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011124	HP:0040189	Scaling skin	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040282 - Frequent	107
HP:0011124	HP:0040189	Scaling skin	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0011124	HP:0025092	Epidermal acanthosis	1	POGLUT1 CL E G H	56983	22954	OMIM:615696	Dowling-Degos disease 4	.	6
HP:0011124	HP:0040189	Scaling skin	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0011124	HP:0040189	Scaling skin	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0011124	HP:0040189	Scaling skin	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0011124	HP:0040189	Scaling skin	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0011124	HP:0025092	Epidermal acanthosis	1	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type	.	4
HP:0011124	HP:0025092	Epidermal acanthosis	1	SERPINB8 CL E G H	5271	8952	OMIM:617115	Peeling skin syndrome 5	.	3
HP:0011124	HP:0025092	Epidermal acanthosis	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0011124	HP:0025092	Epidermal acanthosis	1	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0011124	HP:0025092	Epidermal acanthosis	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome	.	6
HP:0011124	HP:0025092	Epidermal acanthosis	1	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome	.	6
HP:0011124	HP:0040189	Scaling skin	1	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14	.	4
HP:0011124	HP:0040189	Scaling skin	1	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby		98
HP:0011124	HP:0025092	Epidermal acanthosis	1	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040281 - Very frequent	98
HP:0011124	HP:0040189	Scaling skin	1	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040281 - Very frequent	98
HP:0011124	HP:0025092	Epidermal acanthosis	1	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	.	98
HP:0011124	HP:0040189	Scaling skin	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040282 - Frequent	44
HP:0011124	HP:0040189	Scaling skin	1	TGM5 CL E G H	9333	11781	OMIM:609796	Peeling skin syndrome, Acral type	.	44
HP:0011124	HP:0025092	Epidermal acanthosis	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia	.	71
HP:0011124	HP:0025115	Civatte bodies	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0011124	HP:0025115	Civatte bodies	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0011124	HP:0040189	Scaling skin	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0011124	HP:0040189	Scaling skin	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0011124	HP:0025092	Epidermal acanthosis	1	ZNF750 CL E G H	79755	25843	OMIM:610227	Seborrhea-Like dermatitis with psoriasiform elements		2
HP:0011124	HP:0025122	Sawtooth acanthosis	2	CL E G H
HP:0011124	HP:0025526	Psoriasiform lesion	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0011124	HP:0040190	White scaling skin	2	CASP14 CL E G H	23581	1502	OMIM:617320	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12		1
HP:0011124	HP:0040190	White scaling skin	2	CHST8 CL E G H	64377	15993	OMIM:616265	Peeling skin syndrome 3	.	1
HP:0011124	HP:0040190	White scaling skin	2	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0011124	HP:0025524	Palmoplantar scaling skin	2	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0011124	HP:0033807	Absent keratohyalin granules	2	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0011124	HP:0025526	Psoriasiform lesion	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0011124	HP:0025524	Palmoplantar scaling skin	2	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040283 - Occasional	100
HP:0011124	HP:0025526	Psoriasiform lesion	2	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent	35
HP:0011124	HP:0025525	Scaling skin on fingertip	2	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011124	HP:0025526	Psoriasiform lesion	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0011124	HP:0025524	Palmoplantar scaling skin	2	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent	98