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:0011368	HP:0011368	Epidermal thickening	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0011368	HP:0011368	Epidermal thickening	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome		57
HP:0011368	HP:0011368	Epidermal thickening	0	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0011368	HP:0011368	Epidermal thickening	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0011368	HP:0011368	Epidermal thickening	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0011368	HP:0011368	Epidermal thickening	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis		130
HP:0011368	HP:0011368	Epidermal thickening	0	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0011368	HP:0011368	Epidermal thickening	0	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B		130
HP:0011368	HP:0011368	Epidermal thickening	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis		130
HP:0011368	HP:0011368	Epidermal thickening	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0011368	HP:0011368	Epidermal thickening	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome		90
HP:0011368	HP:0011368	Epidermal thickening	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0011368	HP:0011368	Epidermal thickening	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0011368	HP:0011368	Epidermal thickening	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0011368	HP:0011368	Epidermal thickening	0	ADAM10 CL E G H	102	188	OMIM:615537	Reticulate acropigmentation of kitamura		7
HP:0011368	HP:0011368	Epidermal thickening	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0011368	HP:0011368	Epidermal thickening	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0011368	HP:0011368	Epidermal thickening	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0011368	HP:0011368	Epidermal thickening	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0011368	HP:0011368	Epidermal thickening	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome		5
HP:0011368	HP:0011368	Epidermal thickening	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0011368	HP:0011368	Epidermal thickening	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0011368	HP:0011368	Epidermal thickening	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0011368	HP:0011368	Epidermal thickening	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0011368	HP:0011368	Epidermal thickening	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0011368	HP:0011368	Epidermal thickening	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy		12
HP:0011368	HP:0011368	Epidermal thickening	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome		87
HP:0011368	HP:0011368	Epidermal thickening	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome		87
HP:0011368	HP:0011368	Epidermal thickening	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0011368	HP:0011368	Epidermal thickening	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0011368	HP:0011368	Epidermal thickening	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0011368	HP:0011368	Epidermal thickening	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0011368	HP:0011368	Epidermal thickening	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis		75
HP:0011368	HP:0011368	Epidermal thickening	0	ALOX12B CL E G H	242	430	ORPHA:281122	Self-improving collodion baby		75
HP:0011368	HP:0011368	Epidermal thickening	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0011368	HP:0011368	Epidermal thickening	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0011368	HP:0011368	Epidermal thickening	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0011368	HP:0011368	Epidermal thickening	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis		63
HP:0011368	HP:0011368	Epidermal thickening	0	ALOXE3 CL E G H	59344	13743	ORPHA:281122	Self-improving collodion baby		63
HP:0011368	HP:0011368	Epidermal thickening	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0011368	HP:0011368	Epidermal thickening	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0011368	HP:0011368	Epidermal thickening	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0011368	HP:0011368	Epidermal thickening	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0011368	HP:0011368	Epidermal thickening	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011368	HP:0011368	Epidermal thickening	0	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome
HP:0011368	HP:0011368	Epidermal thickening	0	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome		1
HP:0011368	HP:0011368	Epidermal thickening	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma		1
HP:0011368	HP:0011368	Epidermal thickening	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma		5
HP:0011368	HP:0011368	Epidermal thickening	0	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0011368	HP:0011368	Epidermal thickening	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0011368	HP:0011368	Epidermal thickening	0	ASPRV1 CL E G H	151516	26321	OMIM:146750	Ichthyosis, lamellar, autosomal dominant		1
HP:0011368	HP:0011368	Epidermal thickening	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis		1
HP:0011368	HP:0011368	Epidermal thickening	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0011368	HP:0011368	Epidermal thickening	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0011368	HP:0011368	Epidermal thickening	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF		5
HP:0011368	HP:0011368	Epidermal thickening	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0011368	HP:0011368	Epidermal thickening	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf		86
HP:0011368	HP:0011368	Epidermal thickening	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease		86
HP:0011368	HP:0011368	Epidermal thickening	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0011368	HP:0011368	Epidermal thickening	0	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus		56
HP:0011368	HP:0011368	Epidermal thickening	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0011368	HP:0011368	Epidermal thickening	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0011368	HP:0011368	Epidermal thickening	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0011368	HP:0011368	Epidermal thickening	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0011368	HP:0011368	Epidermal thickening	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0011368	HP:0011368	Epidermal thickening	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0011368	HP:0011368	Epidermal thickening	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0011368	HP:0011368	Epidermal thickening	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0011368	HP:0011368	Epidermal thickening	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0011368	HP:0011368	Epidermal thickening	0	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris		33
HP:0011368	HP:0011368	Epidermal thickening	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0011368	HP:0011368	Epidermal thickening	0	CARD14 CL E G H	79092	16446	OMIM:602723	PSORIASIS 2; PSORS2		33
HP:0011368	HP:0011368	Epidermal thickening	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0011368	HP:0011368	Epidermal thickening	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0011368	HP:0011368	Epidermal thickening	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		4
HP:0011368	HP:0011368	Epidermal thickening	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0011368	HP:0011368	Epidermal thickening	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0011368	HP:0011368	Epidermal thickening	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0011368	HP:0011368	Epidermal thickening	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0011368	HP:0011368	Epidermal thickening	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0011368	HP:0011368	Epidermal thickening	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0011368	HP:0011368	Epidermal thickening	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0011368	HP:0011368	Epidermal thickening	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration		87
HP:0011368	HP:0011368	Epidermal thickening	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0011368	HP:0011368	Epidermal thickening	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0011368	HP:0011368	Epidermal thickening	0	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0011368	HP:0011368	Epidermal thickening	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0011368	HP:0011368	Epidermal thickening	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0011368	HP:0011368	Epidermal thickening	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type		53
HP:0011368	HP:0011368	Epidermal thickening	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy		8
HP:0011368	HP:0011368	Epidermal thickening	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0011368	HP:0011368	Epidermal thickening	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis		11
HP:0011368	HP:0011368	Epidermal thickening	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome		11
HP:0011368	HP:0011368	Epidermal thickening	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis		3
HP:0011368	HP:0011368	Epidermal thickening	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0011368	HP:0011368	Epidermal thickening	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0011368	HP:0011368	Epidermal thickening	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:0011368	HP:0011368	Epidermal thickening	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0011368	HP:0011368	Epidermal thickening	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0011368	HP:0011368	Epidermal thickening	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0011368	HP:0011368	Epidermal thickening	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked		678
HP:0011368	HP:0011368	Epidermal thickening	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0011368	HP:0011368	Epidermal thickening	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0011368	HP:0011368	Epidermal thickening	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0011368	HP:0011368	Epidermal thickening	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0011368	HP:0011368	Epidermal thickening	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0011368	HP:0011368	Epidermal thickening	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0011368	HP:0011368	Epidermal thickening	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa		263
HP:0011368	HP:0011368	Epidermal thickening	0	COL7A1 CL E G H	1294	2214	OMIM:131850	Epidermolysis bullosa dystrophica, pretibial		263
HP:0011368	HP:0011368	Epidermal thickening	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0011368	HP:0011368	Epidermal thickening	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form		263
HP:0011368	HP:0011368	Epidermal thickening	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011368	HP:0011368	Epidermal thickening	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0011368	HP:0011368	Epidermal thickening	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0011368	HP:0011368	Epidermal thickening	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0011368	HP:0011368	Epidermal thickening	0	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4		4
HP:0011368	HP:0011368	Epidermal thickening	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0011368	HP:0011368	Epidermal thickening	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides		10
HP:0011368	HP:0011368	Epidermal thickening	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0011368	HP:0011368	Epidermal thickening	0	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome		50
HP:0011368	HP:0011368	Epidermal thickening	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0011368	HP:0011368	Epidermal thickening	0	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome		50
HP:0011368	HP:0011368	Epidermal thickening	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0011368	HP:0011368	Epidermal thickening	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0011368	HP:0011368	Epidermal thickening	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency		60
HP:0011368	HP:0011368	Epidermal thickening	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0011368	HP:0011368	Epidermal thickening	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis		54
HP:0011368	HP:0011368	Epidermal thickening	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0011368	HP:0011368	Epidermal thickening	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum		30
HP:0011368	HP:0011368	Epidermal thickening	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0011368	HP:0011368	Epidermal thickening	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0011368	HP:0011368	Epidermal thickening	0	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type		4
HP:0011368	HP:0011368	Epidermal thickening	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0011368	HP:0011368	Epidermal thickening	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0011368	HP:0011368	Epidermal thickening	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3		5
HP:0011368	HP:0011368	Epidermal thickening	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0011368	HP:0011368	Epidermal thickening	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0011368	HP:0011368	Epidermal thickening	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0011368	HP:0011368	Epidermal thickening	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0011368	HP:0011368	Epidermal thickening	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0011368	HP:0011368	Epidermal thickening	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0011368	HP:0011368	Epidermal thickening	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige		16
HP:0011368	HP:0011368	Epidermal thickening	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0011368	HP:0011368	Epidermal thickening	0	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma		16
HP:0011368	HP:0011368	Epidermal thickening	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0011368	HP:0011368	Epidermal thickening	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6		63
HP:0011368	HP:0011368	Epidermal thickening	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix		63
HP:0011368	HP:0011368	Epidermal thickening	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0011368	HP:0011368	Epidermal thickening	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		747
HP:0011368	HP:0011368	Epidermal thickening	0	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome		747
HP:0011368	HP:0011368	Epidermal thickening	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0011368	HP:0011368	Epidermal thickening	0	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0011368	HP:0011368	Epidermal thickening	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0011368	HP:0011368	Epidermal thickening	0	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma		747
HP:0011368	HP:0011368	Epidermal thickening	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0011368	HP:0011368	Epidermal thickening	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0011368	HP:0011368	Epidermal thickening	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0011368	HP:0011368	Epidermal thickening	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0011368	HP:0011368	Epidermal thickening	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0011368	HP:0011368	Epidermal thickening	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis		14
HP:0011368	HP:0011368	Epidermal thickening	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0011368	HP:0011368	Epidermal thickening	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0011368	HP:0011368	Epidermal thickening	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome		3
HP:0011368	HP:0011368	Epidermal thickening	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0011368	HP:0011368	Epidermal thickening	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation		62
HP:0011368	HP:0011368	Epidermal thickening	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0011368	HP:0011368	Epidermal thickening	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0011368	HP:0011368	Epidermal thickening	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0011368	HP:0011368	Epidermal thickening	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease		3
HP:0011368	HP:0011368	Epidermal thickening	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0011368	HP:0011368	Epidermal thickening	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0011368	HP:0011368	Epidermal thickening	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum		106
HP:0011368	HP:0011368	Epidermal thickening	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0011368	HP:0011368	Epidermal thickening	0	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive		54
HP:0011368	HP:0011368	Epidermal thickening	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum		54
HP:0011368	HP:0011368	Epidermal thickening	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum		158
HP:0011368	HP:0011368	Epidermal thickening	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum		83
HP:0011368	HP:0011368	Epidermal thickening	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0011368	HP:0011368	Epidermal thickening	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0011368	HP:0011368	Epidermal thickening	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0011368	HP:0011368	Epidermal thickening	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance		13
HP:0011368	HP:0011368	Epidermal thickening	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0011368	HP:0011368	Epidermal thickening	0	EXPH5 CL E G H	23086	30578	OMIM:615028	Epidermolysis bullosa, nonspecific, autosomal recessive		2
HP:0011368	HP:0011368	Epidermal thickening	0	FDPS CL E G H	2224	3631	ORPHA:79152	Disseminated superficial actinic porokeratosis		4
HP:0011368	HP:0011368	Epidermal thickening	0	FDPS CL E G H	2224	3631	OMIM:616631	Porokeratosis 9, multiple types		4
HP:0011368	HP:0011368	Epidermal thickening	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0011368	HP:0011368	Epidermal thickening	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0011368	HP:0011368	Epidermal thickening	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0011368	HP:0011368	Epidermal thickening	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0011368	HP:0011368	Epidermal thickening	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans		145
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome		145
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA		145
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome		145
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0011368	HP:0011368	Epidermal thickening	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2		145
HP:0011368	HP:0011368	Epidermal thickening	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0011368	HP:0011368	Epidermal thickening	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0011368	HP:0011368	Epidermal thickening	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0011368	HP:0011368	Epidermal thickening	0	FITM2 CL E G H	128486	16135	OMIM:618635	SIDDIQI SYNDROME; SIDDIS
HP:0011368	HP:0011368	Epidermal thickening	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0011368	HP:0011368	Epidermal thickening	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0011368	HP:0011368	Epidermal thickening	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0011368	HP:0011368	Epidermal thickening	0	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0011368	HP:0011368	Epidermal thickening	0	FLG CL E G H	2312	3748	ORPHA:461	Recessive X-linked ichthyosis		63
HP:0011368	HP:0011368	Epidermal thickening	0	FLG2 CL E G H	388698	33276	OMIM:618084	Peeling skin syndrome 6
HP:0011368	HP:0011368	Epidermal thickening	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0011368	HP:0011368	Epidermal thickening	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1		90
HP:0011368	HP:0011368	Epidermal thickening	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease		90
HP:0011368	HP:0011368	Epidermal thickening	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0011368	HP:0011368	Epidermal thickening	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis		43
HP:0011368	HP:0011368	Epidermal thickening	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0011368	HP:0011368	Epidermal thickening	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0011368	HP:0011368	Epidermal thickening	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011368	HP:0011368	Epidermal thickening	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55
HP:0011368	HP:0011368	Epidermal thickening	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011368	HP:0011368	Epidermal thickening	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis		68
HP:0011368	HP:0011368	Epidermal thickening	0	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3		68
HP:0011368	HP:0011368	Epidermal thickening	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0011368	HP:0011368	Epidermal thickening	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0011368	HP:0011368	Epidermal thickening	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0011368	HP:0011368	Epidermal thickening	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant		199
HP:0011368	HP:0011368	Epidermal thickening	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans		199
HP:0011368	HP:0011368	Epidermal thickening	0	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness		199
HP:0011368	HP:0011368	Epidermal thickening	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011368	HP:0011368	Epidermal thickening	0	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness		199
HP:0011368	HP:0011368	Epidermal thickening	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		199
HP:0011368	HP:0011368	Epidermal thickening	0	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome		199
HP:0011368	HP:0011368	Epidermal thickening	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0011368	HP:0011368	Epidermal thickening	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis		74
HP:0011368	HP:0011368	Epidermal thickening	0	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0011368	HP:0011368	Epidermal thickening	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis		12
HP:0011368	HP:0011368	Epidermal thickening	0	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2		12
HP:0011368	HP:0011368	Epidermal thickening	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0011368	HP:0011368	Epidermal thickening	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0011368	HP:0011368	Epidermal thickening	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011368	HP:0011368	Epidermal thickening	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease		37
HP:0011368	HP:0011368	Epidermal thickening	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0011368	HP:0011368	Epidermal thickening	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0011368	HP:0011368	Epidermal thickening	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0011368	HP:0011368	Epidermal thickening	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome		24
HP:0011368	HP:0011368	Epidermal thickening	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011368	HP:0011368	Epidermal thickening	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0011368	HP:0011368	Epidermal thickening	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0011368	HP:0011368	Epidermal thickening	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome		33
HP:0011368	HP:0011368	Epidermal thickening	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0011368	HP:0011368	Epidermal thickening	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0011368	HP:0011368	Epidermal thickening	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0011368	HP:0011368	Epidermal thickening	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0011368	HP:0011368	Epidermal thickening	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0011368	HP:0011368	Epidermal thickening	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type		2
HP:0011368	HP:0011368	Epidermal thickening	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0011368	HP:0011368	Epidermal thickening	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis		4
HP:0011368	HP:0011368	Epidermal thickening	0	HLA-DRA CL E G H	3122	4947	ORPHA:505	Graham Little-Piccardi-Lassueur syndrome
HP:0011368	HP:0011368	Epidermal thickening	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1		55
HP:0011368	HP:0011368	Epidermal thickening	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis		55
HP:0011368	HP:0011368	Epidermal thickening	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0011368	HP:0011368	Epidermal thickening	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0011368	HP:0011368	Epidermal thickening	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0011368	HP:0011368	Epidermal thickening	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0011368	HP:0011368	Epidermal thickening	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2		5
HP:0011368	HP:0011368	Epidermal thickening	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0011368	HP:0011368	Epidermal thickening	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0011368	HP:0011368	Epidermal thickening	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis		14
HP:0011368	HP:0011368	Epidermal thickening	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis		196
HP:0011368	HP:0011368	Epidermal thickening	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis		4
HP:0011368	HP:0011368	Epidermal thickening	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0011368	HP:0011368	Epidermal thickening	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0011368	HP:0011368	Epidermal thickening	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0011368	HP:0011368	Epidermal thickening	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011368	HP:0011368	Epidermal thickening	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0011368	HP:0011368	Epidermal thickening	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A		229
HP:0011368	HP:0011368	Epidermal thickening	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0011368	HP:0011368	Epidermal thickening	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities		229
HP:0011368	HP:0011368	Epidermal thickening	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0011368	HP:0011368	Epidermal thickening	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0011368	HP:0011368	Epidermal thickening	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome		8
HP:0011368	HP:0011368	Epidermal thickening	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease		222
HP:0011368	HP:0011368	Epidermal thickening	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0011368	HP:0011368	Epidermal thickening	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0011368	HP:0011368	Epidermal thickening	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0011368	HP:0011368	Epidermal thickening	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0011368	HP:0011368	Epidermal thickening	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type		1
HP:0011368	HP:0011368	Epidermal thickening	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis		4
HP:0011368	HP:0011368	Epidermal thickening	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4		4
HP:0011368	HP:0011368	Epidermal thickening	0	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia		4
HP:0011368	HP:0011368	Epidermal thickening	0	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0011368	HP:0011368	Epidermal thickening	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0011368	HP:0011368	Epidermal thickening	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0011368	HP:0011368	Epidermal thickening	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0011368	HP:0011368	Epidermal thickening	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	OMIM:146590	Ichthyosis hystrix, Curth-Macklin type		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma		100
HP:0011368	HP:0011368	Epidermal thickening	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0011368	HP:0011368	Epidermal thickening	0	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis		45
HP:0011368	HP:0011368	Epidermal thickening	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0011368	HP:0011368	Epidermal thickening	0	KRT10 CL E G H	3858	6413	OMIM:146600	Ichthyosis hystrix gravior		45
HP:0011368	HP:0011368	Epidermal thickening	0	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis		45
HP:0011368	HP:0011368	Epidermal thickening	0	KRT13 CL E G H	3860	6415	OMIM:615785	White sponge nevus 2		46
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0011368	HP:0011368	Epidermal thickening	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0011368	HP:0011368	Epidermal thickening	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0011368	HP:0011368	Epidermal thickening	0	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1		27
HP:0011368	HP:0011368	Epidermal thickening	0	KRT16 CL E G H	3868	6423	OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal 1		27
HP:0011368	HP:0011368	Epidermal thickening	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0011368	HP:0011368	Epidermal thickening	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0011368	HP:0011368	Epidermal thickening	0	KRT2 CL E G H	3849	6439	OMIM:146800	Ichthyosis, Bullous type		67
HP:0011368	HP:0011368	Epidermal thickening	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis		67
HP:0011368	HP:0011368	Epidermal thickening	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		173
HP:0011368	HP:0011368	Epidermal thickening	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0011368	HP:0011368	Epidermal thickening	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease		173
HP:0011368	HP:0011368	Epidermal thickening	0	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0011368	HP:0011368	Epidermal thickening	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema		173
HP:0011368	HP:0011368	Epidermal thickening	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0011368	HP:0011368	Epidermal thickening	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0011368	HP:0011368	Epidermal thickening	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0011368	HP:0011368	Epidermal thickening	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0011368	HP:0011368	Epidermal thickening	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0011368	HP:0011368	Epidermal thickening	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0011368	HP:0011368	Epidermal thickening	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0011368	HP:0011368	Epidermal thickening	0	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4		4
HP:0011368	HP:0011368	Epidermal thickening	0	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse		4
HP:0011368	HP:0011368	Epidermal thickening	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0011368	HP:0011368	Epidermal thickening	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix		3
HP:0011368	HP:0011368	Epidermal thickening	0	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX		3
HP:0011368	HP:0011368	Epidermal thickening	0	KRT83 CL E G H	3889	6460	OMIM:617756	Erythrokeratodermia variabilis et progressiva 5		65
HP:0011368	HP:0011368	Epidermal thickening	0	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX		65
HP:0011368	HP:0011368	Epidermal thickening	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix		65
HP:0011368	HP:0011368	Epidermal thickening	0	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia		65
HP:0011368	HP:0011368	Epidermal thickening	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix		10
HP:0011368	HP:0011368	Epidermal thickening	0	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX		10
HP:0011368	HP:0011368	Epidermal thickening	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0011368	HP:0011368	Epidermal thickening	0	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0011368	HP:0011368	Epidermal thickening	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0011368	HP:0011368	Epidermal thickening	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0011368	HP:0011368	Epidermal thickening	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0011368	HP:0011368	Epidermal thickening	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0011368	HP:0011368	Epidermal thickening	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0011368	HP:0011368	Epidermal thickening	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0011368	HP:0011368	Epidermal thickening	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency		35
HP:0011368	HP:0011368	Epidermal thickening	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0011368	HP:0011368	Epidermal thickening	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy		7
HP:0011368	HP:0011368	Epidermal thickening	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0011368	HP:0011368	Epidermal thickening	0	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8		1
HP:0011368	HP:0011368	Epidermal thickening	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis		1
HP:0011368	HP:0011368	Epidermal thickening	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0011368	HP:0011368	Epidermal thickening	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0011368	HP:0011368	Epidermal thickening	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0011368	HP:0011368	Epidermal thickening	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0011368	HP:0011368	Epidermal thickening	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0011368	HP:0011368	Epidermal thickening	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0011368	HP:0011368	Epidermal thickening	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type		645
HP:0011368	HP:0011368	Epidermal thickening	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0011368	HP:0011368	Epidermal thickening	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0011368	HP:0011368	Epidermal thickening	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011368	HP:0011368	Epidermal thickening	0	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia
HP:0011368	HP:0011368	Epidermal thickening	0	LORICRIN CL E G H	4014	6663	OMIM:604117	Vohwinkel syndrome, variant form
HP:0011368	HP:0011368	Epidermal thickening	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata		4
HP:0011368	HP:0011368	Epidermal thickening	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome		2
HP:0011368	HP:0011368	Epidermal thickening	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4		2
HP:0011368	HP:0011368	Epidermal thickening	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0011368	HP:0011368	Epidermal thickening	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0011368	HP:0011368	Epidermal thickening	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0011368	HP:0011368	Epidermal thickening	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3		134
HP:0011368	HP:0011368	Epidermal thickening	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0011368	HP:0011368	Epidermal thickening	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0011368	HP:0011368	Epidermal thickening	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0011368	HP:0011368	Epidermal thickening	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome		22
HP:0011368	HP:0011368	Epidermal thickening	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome		22
HP:0011368	HP:0011368	Epidermal thickening	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome		22
HP:0011368	HP:0011368	Epidermal thickening	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0011368	HP:0011368	Epidermal thickening	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0011368	HP:0011368	Epidermal thickening	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked		22
HP:0011368	HP:0011368	Epidermal thickening	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency		54
HP:0011368	HP:0011368	Epidermal thickening	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0011368	HP:0011368	Epidermal thickening	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0011368	HP:0011368	Epidermal thickening	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0011368	HP:0011368	Epidermal thickening	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0011368	HP:0011368	Epidermal thickening	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0011368	HP:0011368	Epidermal thickening	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0011368	HP:0011368	Epidermal thickening	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011368	HP:0011368	Epidermal thickening	0	MVD CL E G H	4597	7529	ORPHA:79152	Disseminated superficial actinic porokeratosis		2
HP:0011368	HP:0011368	Epidermal thickening	0	MVD CL E G H	4597	7529	OMIM:614714	POROKERATOSIS 7, MULTIPLE TYPES; POROK7		2
HP:0011368	HP:0011368	Epidermal thickening	0	MVK CL E G H	4598	7530	ORPHA:79152	Disseminated superficial actinic porokeratosis		150
HP:0011368	HP:0011368	Epidermal thickening	0	MVK CL E G H	4598	7530	OMIM:175900	Porokeratosis 3, multiple types		150
HP:0011368	HP:0011368	Epidermal thickening	0	MVK CL E G H	4598	7530	ORPHA:735	Porokeratosis of Mibelli		150
HP:0011368	HP:0011368	Epidermal thickening	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0011368	HP:0011368	Epidermal thickening	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0011368	HP:0011368	Epidermal thickening	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0011368	HP:0011368	Epidermal thickening	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0011368	HP:0011368	Epidermal thickening	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1		47
HP:0011368	HP:0011368	Epidermal thickening	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2		47
HP:0011368	HP:0011368	Epidermal thickening	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0011368	HP:0011368	Epidermal thickening	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0011368	HP:0011368	Epidermal thickening	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0011368	HP:0011368	Epidermal thickening	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0011368	HP:0011368	Epidermal thickening	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0011368	HP:0011368	Epidermal thickening	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome		9
HP:0011368	HP:0011368	Epidermal thickening	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0011368	HP:0011368	Epidermal thickening	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0011368	HP:0011368	Epidermal thickening	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0011368	HP:0011368	Epidermal thickening	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0011368	HP:0011368	Epidermal thickening	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		60
HP:0011368	HP:0011368	Epidermal thickening	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0011368	HP:0011368	Epidermal thickening	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis		60
HP:0011368	HP:0011368	Epidermal thickening	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0011368	HP:0011368	Epidermal thickening	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0011368	HP:0011368	Epidermal thickening	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0011368	HP:0011368	Epidermal thickening	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0011368	HP:0011368	Epidermal thickening	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0011368	HP:0011368	Epidermal thickening	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0011368	HP:0011368	Epidermal thickening	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0011368	HP:0011368	Epidermal thickening	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0011368	HP:0011368	Epidermal thickening	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0011368	HP:0011368	Epidermal thickening	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0011368	HP:0011368	Epidermal thickening	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome		19
HP:0011368	HP:0011368	Epidermal thickening	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0011368	HP:0011368	Epidermal thickening	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency		65
HP:0011368	HP:0011368	Epidermal thickening	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type		28
HP:0011368	HP:0011368	Epidermal thickening	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0011368	HP:0011368	Epidermal thickening	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0011368	HP:0011368	Epidermal thickening	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0011368	HP:0011368	Epidermal thickening	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0011368	HP:0011368	Epidermal thickening	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0011368	HP:0011368	Epidermal thickening	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease		169
HP:0011368	HP:0011368	Epidermal thickening	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease		75
HP:0011368	HP:0011368	Epidermal thickening	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease		4
HP:0011368	HP:0011368	Epidermal thickening	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease		65
HP:0011368	HP:0011368	Epidermal thickening	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease		66
HP:0011368	HP:0011368	Epidermal thickening	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease		46
HP:0011368	HP:0011368	Epidermal thickening	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease		59
HP:0011368	HP:0011368	Epidermal thickening	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease		62
HP:0011368	HP:0011368	Epidermal thickening	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease		82
HP:0011368	HP:0011368	Epidermal thickening	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease		106
HP:0011368	HP:0011368	Epidermal thickening	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease		47
HP:0011368	HP:0011368	Epidermal thickening	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease		99
HP:0011368	HP:0011368	Epidermal thickening	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0011368	HP:0011368	Epidermal thickening	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease		98
HP:0011368	HP:0011368	Epidermal thickening	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B		72
HP:0011368	HP:0011368	Epidermal thickening	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease		72
HP:0011368	HP:0011368	Epidermal thickening	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease		72
HP:0011368	HP:0011368	Epidermal thickening	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0011368	HP:0011368	Epidermal thickening	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0011368	HP:0011368	Epidermal thickening	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease		45
HP:0011368	HP:0011368	Epidermal thickening	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease		45
HP:0011368	HP:0011368	Epidermal thickening	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0011368	HP:0011368	Epidermal thickening	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0011368	HP:0011368	Epidermal thickening	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome		36
HP:0011368	HP:0011368	Epidermal thickening	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0011368	HP:0011368	Epidermal thickening	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0011368	HP:0011368	Epidermal thickening	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0011368	HP:0011368	Epidermal thickening	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0011368	HP:0011368	Epidermal thickening	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0011368	HP:0011368	Epidermal thickening	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0011368	HP:0011368	Epidermal thickening	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0011368	HP:0011368	Epidermal thickening	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0011368	HP:0011368	Epidermal thickening	0	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy		759
HP:0011368	HP:0011368	Epidermal thickening	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement		759
HP:0011368	HP:0011368	Epidermal thickening	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0011368	HP:0011368	Epidermal thickening	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0011368	HP:0011368	Epidermal thickening	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0011368	HP:0011368	Epidermal thickening	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0011368	HP:0011368	Epidermal thickening	0	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types		3
HP:0011368	HP:0011368	Epidermal thickening	0	PMVK CL E G H	10654	9141	ORPHA:735	Porokeratosis of Mibelli		3
HP:0011368	HP:0011368	Epidermal thickening	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		47
HP:0011368	HP:0011368	Epidermal thickening	0	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10		47
HP:0011368	HP:0011368	Epidermal thickening	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease		2
HP:0011368	HP:0011368	Epidermal thickening	0	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2		2
HP:0011368	HP:0011368	Epidermal thickening	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease		6
HP:0011368	HP:0011368	Epidermal thickening	0	POGLUT1 CL E G H	56983	22954	OMIM:615696	Dowling-Degos disease 4		6
HP:0011368	HP:0011368	Epidermal thickening	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0011368	HP:0011368	Epidermal thickening	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0011368	HP:0011368	Epidermal thickening	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency		27
HP:0011368	HP:0011368	Epidermal thickening	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		2
HP:0011368	HP:0011368	Epidermal thickening	0	POMP CL E G H	51371	20330	ORPHA:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome		2
HP:0011368	HP:0011368	Epidermal thickening	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0011368	HP:0011368	Epidermal thickening	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0011368	HP:0011368	Epidermal thickening	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0011368	HP:0011368	Epidermal thickening	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0011368	HP:0011368	Epidermal thickening	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0011368	HP:0011368	Epidermal thickening	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome		9
HP:0011368	HP:0011368	Epidermal thickening	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome		34
HP:0011368	HP:0011368	Epidermal thickening	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0011368	HP:0011368	Epidermal thickening	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0011368	HP:0011368	Epidermal thickening	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0011368	HP:0011368	Epidermal thickening	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0011368	HP:0011368	Epidermal thickening	0	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease		2
HP:0011368	HP:0011368	Epidermal thickening	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease		2
HP:0011368	HP:0011368	Epidermal thickening	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0011368	HP:0011368	Epidermal thickening	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0011368	HP:0011368	Epidermal thickening	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0011368	HP:0011368	Epidermal thickening	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0011368	HP:0011368	Epidermal thickening	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0011368	HP:0011368	Epidermal thickening	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease		948
HP:0011368	HP:0011368	Epidermal thickening	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0011368	HP:0011368	Epidermal thickening	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0011368	HP:0011368	Epidermal thickening	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0011368	HP:0011368	Epidermal thickening	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0011368	HP:0011368	Epidermal thickening	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome		80
HP:0011368	HP:0011368	Epidermal thickening	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0011368	HP:0011368	Epidermal thickening	0	RIGI CL E G H	23586	19102	OMIM:616298	Singleton-Merten syndrome 2
HP:0011368	HP:0011368	Epidermal thickening	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0011368	HP:0011368	Epidermal thickening	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0011368	HP:0011368	Epidermal thickening	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0011368	HP:0011368	Epidermal thickening	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0011368	HP:0011368	Epidermal thickening	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0011368	HP:0011368	Epidermal thickening	0	RSPO1 CL E G H	284654	21679	ORPHA:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome		3
HP:0011368	HP:0011368	Epidermal thickening	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0011368	HP:0011368	Epidermal thickening	0	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma		1
HP:0011368	HP:0011368	Epidermal thickening	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0011368	HP:0011368	Epidermal thickening	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0011368	HP:0011368	Epidermal thickening	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0011368	HP:0011368	Epidermal thickening	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0011368	HP:0011368	Epidermal thickening	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0011368	HP:0011368	Epidermal thickening	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0011368	HP:0011368	Epidermal thickening	0	SDR9C7 CL E G H	121214	29958	OMIM:617574	Ichthyosis, congenital, autosomal recessive 13		2
HP:0011368	HP:0011368	Epidermal thickening	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis		2
HP:0011368	HP:0011368	Epidermal thickening	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0011368	HP:0011368	Epidermal thickening	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome		14
HP:0011368	HP:0011368	Epidermal thickening	0	SERPINA12 CL E G H	145264	18359	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0011368	HP:0011368	Epidermal thickening	0	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0011368	HP:0011368	Epidermal thickening	0	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type		4
HP:0011368	HP:0011368	Epidermal thickening	0	SERPINB8 CL E G H	5271	8952	OMIM:617115	Peeling skin syndrome 5		3
HP:0011368	HP:0011368	Epidermal thickening	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0011368	HP:0011368	Epidermal thickening	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0011368	HP:0011368	Epidermal thickening	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0011368	HP:0011368	Epidermal thickening	0	SLC17A9 CL E G H	63910	16192	ORPHA:79152	Disseminated superficial actinic porokeratosis		3
HP:0011368	HP:0011368	Epidermal thickening	0	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type		3
HP:0011368	HP:0011368	Epidermal thickening	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0011368	HP:0011368	Epidermal thickening	0	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome		26
HP:0011368	HP:0011368	Epidermal thickening	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0011368	HP:0011368	Epidermal thickening	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis		13
HP:0011368	HP:0011368	Epidermal thickening	0	SLURP1 CL E G H	57152	18746	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type		15
HP:0011368	HP:0011368	Epidermal thickening	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0011368	HP:0011368	Epidermal thickening	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0011368	HP:0011368	Epidermal thickening	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0011368	HP:0011368	Epidermal thickening	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0011368	HP:0011368	Epidermal thickening	0	SMARCAD1 CL E G H	56916	18398	OMIM:136000	Fingerprints, absence of		6
HP:0011368	HP:0011368	Epidermal thickening	0	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome		6
HP:0011368	HP:0011368	Epidermal thickening	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome		6
HP:0011368	HP:0011368	Epidermal thickening	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0011368	HP:0011368	Epidermal thickening	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0011368	HP:0011368	Epidermal thickening	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0011368	HP:0011368	Epidermal thickening	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome		61
HP:0011368	HP:0011368	Epidermal thickening	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0011368	HP:0011368	Epidermal thickening	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0011368	HP:0011368	Epidermal thickening	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome		100
HP:0011368	HP:0011368	Epidermal thickening	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome		5
HP:0011368	HP:0011368	Epidermal thickening	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0011368	HP:0011368	Epidermal thickening	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0011368	HP:0011368	Epidermal thickening	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0011368	HP:0011368	Epidermal thickening	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0011368	HP:0011368	Epidermal thickening	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1
HP:0011368	HP:0011368	Epidermal thickening	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0011368	HP:0011368	Epidermal thickening	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0011368	HP:0011368	Epidermal thickening	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0011368	HP:0011368	Epidermal thickening	0	ST14 CL E G H	6768	11344	ORPHA:91132	Ichthyosis-hypotrichosis syndrome		4
HP:0011368	HP:0011368	Epidermal thickening	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome		31
HP:0011368	HP:0011368	Epidermal thickening	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome		31
HP:0011368	HP:0011368	Epidermal thickening	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0011368	HP:0011368	Epidermal thickening	0	STS CL E G H	412	11425	ORPHA:461	Recessive X-linked ichthyosis		19
HP:0011368	HP:0011368	Epidermal thickening	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis		19
HP:0011368	HP:0011368	Epidermal thickening	0	SULT2B1 CL E G H	6820	11459	OMIM:617571	Ichthyosis, congenital, autosomal recessive 14		4
HP:0011368	HP:0011368	Epidermal thickening	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis		4
HP:0011368	HP:0011368	Epidermal thickening	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency		80
HP:0011368	HP:0011368	Epidermal thickening	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency		80
HP:0011368	HP:0011368	Epidermal thickening	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0011368	HP:0011368	Epidermal thickening	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0011368	HP:0011368	Epidermal thickening	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome		34
HP:0011368	HP:0011368	Epidermal thickening	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0011368	HP:0011368	Epidermal thickening	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0011368	HP:0011368	Epidermal thickening	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0011368	HP:0011368	Epidermal thickening	0	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0011368	HP:0011368	Epidermal thickening	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2		43
HP:0011368	HP:0011368	Epidermal thickening	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0011368	HP:0011368	Epidermal thickening	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0011368	HP:0011368	Epidermal thickening	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0011368	HP:0011368	Epidermal thickening	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0011368	HP:0011368	Epidermal thickening	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011368	HP:0011368	Epidermal thickening	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby		98
HP:0011368	HP:0011368	Epidermal thickening	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis		98
HP:0011368	HP:0011368	Epidermal thickening	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		98
HP:0011368	HP:0011368	Epidermal thickening	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1		98
HP:0011368	HP:0011368	Epidermal thickening	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis		98
HP:0011368	HP:0011368	Epidermal thickening	0	TGM1 CL E G H	7051	11777	ORPHA:281122	Self-improving collodion baby		98
HP:0011368	HP:0011368	Epidermal thickening	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0011368	HP:0011368	Epidermal thickening	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0011368	HP:0011368	Epidermal thickening	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0011368	HP:0011368	Epidermal thickening	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0011368	HP:0011368	Epidermal thickening	0	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome		65
HP:0011368	HP:0011368	Epidermal thickening	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0011368	HP:0011368	Epidermal thickening	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0011368	HP:0011368	Epidermal thickening	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0011368	HP:0011368	Epidermal thickening	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0011368	HP:0011368	Epidermal thickening	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0011368	HP:0011368	Epidermal thickening	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0011368	HP:0011368	Epidermal thickening	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0011368	HP:0011368	Epidermal thickening	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0011368	HP:0011368	Epidermal thickening	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0011368	HP:0011368	Epidermal thickening	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0011368	HP:0011368	Epidermal thickening	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis		4
HP:0011368	HP:0011368	Epidermal thickening	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome		27
HP:0011368	HP:0011368	Epidermal thickening	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		4
HP:0011368	HP:0011368	Epidermal thickening	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type		4
HP:0011368	HP:0011368	Epidermal thickening	0	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0011368	HP:0011368	Epidermal thickening	0	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6		124
HP:0011368	HP:0011368	Epidermal thickening	0	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia		124
HP:0011368	HP:0011368	Epidermal thickening	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0011368	HP:0011368	Epidermal thickening	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques		151
HP:0011368	HP:0011368	Epidermal thickening	0	TRPV3 CL E G H	162514	18084	OMIM:616400	Palmoplantar keratoderma, nonepidermolytic, focal 2		151
HP:0011368	HP:0011368	Epidermal thickening	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0011368	HP:0011368	Epidermal thickening	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0011368	HP:0011368	Epidermal thickening	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0011368	HP:0011368	Epidermal thickening	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A		146
HP:0011368	HP:0011368	Epidermal thickening	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0011368	HP:0011368	Epidermal thickening	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0011368	HP:0011368	Epidermal thickening	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0011368	HP:0011368	Epidermal thickening	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0011368	HP:0011368	Epidermal thickening	0	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID		4
HP:0011368	HP:0011368	Epidermal thickening	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2		27
HP:0011368	HP:0011368	Epidermal thickening	0	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0011368	HP:0011368	Epidermal thickening	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0011368	HP:0011368	Epidermal thickening	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome		10
HP:0011368	HP:0011368	Epidermal thickening	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0011368	HP:0011368	Epidermal thickening	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0011368	HP:0011368	Epidermal thickening	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome		71
HP:0011368	HP:0011368	Epidermal thickening	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0011368	HP:0011368	Epidermal thickening	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0011368	HP:0011368	Epidermal thickening	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0011368	HP:0011368	Epidermal thickening	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum		34
HP:0011368	HP:0011368	Epidermal thickening	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum		86
HP:0011368	HP:0011368	Epidermal thickening	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9
HP:0011368	HP:0011368	Epidermal thickening	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0011368	HP:0011368	Epidermal thickening	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0011368	HP:0011368	Epidermal thickening	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0011368	HP:0011368	Epidermal thickening	0	ZNF750 CL E G H	79755	25843	OMIM:610227	Seborrhea-Like dermatitis with psoriasiform elements		2
HP:0011368	HP:0007439	Generalized keratosis follicularis	1	CL E G H
HP:0011368	HP:0000962	Hyperkeratosis	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0011368	HP:0000962	Hyperkeratosis	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome		57
HP:0011368	HP:0000962	Hyperkeratosis	1	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0011368	HP:0025114	Hypergranulosis	1	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0011368	HP:0040162	Orthokeratosis	1	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0011368	HP:0040162	Orthokeratosis	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040282 - Frequent	7
HP:0011368	HP:0000962	Hyperkeratosis	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0011368	HP:0025114	Hypergranulosis	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040282 - Frequent	7
HP:0011368	HP:0008064	Ichthyosis	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	130
HP:0011368	HP:0000962	Hyperkeratosis	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0011368	HP:0008064	Ichthyosis	1	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040281 - Very frequent	130
HP:0011368	HP:0000962	Hyperkeratosis	1	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040281 - Very frequent	130
HP:0011368	HP:0000962	Hyperkeratosis	1	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0011368	HP:0008064	Ichthyosis	1	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0011368	HP:0008064	Ichthyosis	1	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B		130
HP:0011368	HP:0000962	Hyperkeratosis	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	130
HP:0011368	HP:0008064	Ichthyosis	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	130
HP:0011368	HP:0000962	Hyperkeratosis	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0011368	HP:0008064	Ichthyosis	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome		90
HP:0011368	HP:0008064	Ichthyosis	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0011368	HP:0000962	Hyperkeratosis	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0011368	HP:0000962	Hyperkeratosis	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0011368	HP:0000962	Hyperkeratosis	1	ADAM10 CL E G H	102	188	OMIM:615537	Reticulate acropigmentation of kitamura	.	7
HP:0011368	HP:0000962	Hyperkeratosis	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0011368	HP:0000956	Acanthosis nigricans	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0011368	HP:0000956	Acanthosis nigricans	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0011368	HP:0000956	Acanthosis nigricans	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0011368	HP:0008064	Ichthyosis	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent	5
HP:0011368	HP:0000956	Acanthosis nigricans	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional	95
HP:0011368	HP:0000962	Hyperkeratosis	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0011368	HP:0000962	Hyperkeratosis	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0011368	HP:0000962	Hyperkeratosis	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0011368	HP:0000962	Hyperkeratosis	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0011368	HP:0000956	Acanthosis nigricans	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0011368	HP:0000962	Hyperkeratosis	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040281 - Very frequent	87
HP:0011368	HP:0008064	Ichthyosis	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040281 - Very frequent	87
HP:0011368	HP:0008064	Ichthyosis	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.	87
HP:0011368	HP:0000956	Acanthosis nigricans	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0011368	HP:0000956	Acanthosis nigricans	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0011368	HP:0008064	Ichthyosis	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	75
HP:0011368	HP:0000962	Hyperkeratosis	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0011368	HP:0000962	Hyperkeratosis	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0011368	HP:0008064	Ichthyosis	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0011368	HP:0025114	Hypergranulosis	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0011368	HP:0008064	Ichthyosis	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	75
HP:0011368	HP:0000962	Hyperkeratosis	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	75
HP:0011368	HP:0008064	Ichthyosis	1	ALOX12B CL E G H	242	430	ORPHA:281122	Self-improving collodion baby	HP:0040281 - Very frequent	75
HP:0011368	HP:0008064	Ichthyosis	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040281 - Very frequent	63
HP:0011368	HP:0000962	Hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0011368	HP:0008064	Ichthyosis	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0011368	HP:0000962	Hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0011368	HP:0025114	Hypergranulosis	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0011368	HP:0008064	Ichthyosis	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0011368	HP:0000962	Hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	.	63
HP:0011368	HP:0008064	Ichthyosis	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	63
HP:0011368	HP:0000962	Hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040281 - Very frequent	63
HP:0011368	HP:0008064	Ichthyosis	1	ALOXE3 CL E G H	59344	13743	ORPHA:281122	Self-improving collodion baby	HP:0040281 - Very frequent	63
HP:0011368	HP:0200044	Porokeratosis	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0011368	HP:0000962	Hyperkeratosis	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1		2
HP:0011368	HP:0000962	Hyperkeratosis	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0011368	HP:0000962	Hyperkeratosis	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0011368	HP:0008064	Ichthyosis	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0011368	HP:0000962	Hyperkeratosis	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0011368	HP:0008064	Ichthyosis	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0011368	HP:0008064	Ichthyosis	1	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome	HP:0040281 - Very frequent
HP:0011368	HP:0000962	Hyperkeratosis	1	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome	HP:0040281 - Very frequent
HP:0011368	HP:0000962	Hyperkeratosis	1	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome	HP:0040281 - Very frequent	1
HP:0011368	HP:0008064	Ichthyosis	1	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome	HP:0040281 - Very frequent	1
HP:0011368	HP:0008064	Ichthyosis	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0011368	HP:0000962	Hyperkeratosis	1	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma		5
HP:0011368	HP:0000962	Hyperkeratosis	1	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0011368	HP:0008064	Ichthyosis	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0011368