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:0007556	HP:0007556	Plantar hyperkeratosis	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma		5
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf		86
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease		86
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris		33
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome		50
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome		50
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige		16
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma		16
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		747
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome		747
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma		747
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis		68
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3		68
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans		199
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness		199
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness		199
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		199
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome		199
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis		74
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis		12
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2		12
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1		55
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis		55
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease		222
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis		100
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin		100
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic	.	100
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma		100
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis		45
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis		45
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040282 - Frequent	110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis		110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome		110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1		27
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT16 CL E G H	3868	6423	OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal 1		27
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis		67
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040282 - Frequent	173
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	173
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional	173
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3	.	41
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT83 CL E G H	3889	6460	OMIM:617756	Erythrokeratodermia variabilis et progressiva 5		65
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia		65
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic	.	66
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type	.	167
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked		22
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		60
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy	.	759
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement		759
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		47
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10		47
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		2
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	POMP CL E G H	51371	20330	ORPHA:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome		2
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome		80
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0007556	HP:0007556	Plantar hyperkeratosis	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:0007556	HP:0007556	Plantar hyperkeratosis	0	RSPO1 CL E G H	284654	21679	ORPHA:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome		3
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma		1
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SDR9C7 CL E G H	121214	29958	OMIM:617574	Ichthyosis, congenital, autosomal recessive 13		2
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SERPINA12 CL E G H	145264	18359	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type		4
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis		13
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SLURP1 CL E G H	57152	18746	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type		15
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome		6
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome		6
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2		43
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis		98
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		98
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1		98
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia		124
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques		151
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TRPV3 CL E G H	162514	18084	OMIM:616400	Palmoplantar keratoderma, nonepidermolytic, focal 2		151
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome		71
HP:0007556	HP:0007556	Plantar hyperkeratosis	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome		57
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	7
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma		5
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf		86
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease		86
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris		33
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.	71
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	2
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4		4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome		50
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent	50
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome	.	50
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige		16
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma		16
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		747
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome		747
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma		747
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	HP:0040281 - Very frequent	68
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis		68
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3		68
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans		199
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness	.	199
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness		199
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		199
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome		199
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis		74
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis		12
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2		12
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome		24
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis		55
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease		222
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis		4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4	.	4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia		4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin		100
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic	.	100
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma		100
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular	.	45
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis	.	45
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040282 - Frequent	110
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.	110
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.	110
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome		110
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1	.	27
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT16 CL E G H	3868	6423	OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal 1		27
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis		67
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.	173
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4		4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse		4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT83 CL E G H	3889	6460	OMIM:617756	Erythrokeratodermia variabilis et progressiva 5	.	65
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia		65
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic	.	66
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040283 - Occasional	4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		60
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement		759
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		47
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10		47
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		2
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	POMP CL E G H	51371	20330	ORPHA:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome		2
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome		80
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	RSPO1 CL E G H	284654	21679	ORPHA:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome		3
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma		1
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SDR9C7 CL E G H	121214	29958	OMIM:617574	Ichthyosis, congenital, autosomal recessive 13	.	2
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SERPINA12 CL E G H	145264	18359	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type		4
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis		13
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SLURP1 CL E G H	57152	18746	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type		15
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome		6
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome		6
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2		43
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040283 - Occasional	98
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		98
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	HP:0040283 - Occasional	98
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome		27
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia		124
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques		151
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TRPV3 CL E G H	162514	18084	OMIM:616400	Palmoplantar keratoderma, nonepidermolytic, focal 2		151
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome		71
HP:0007556	HP:0000972	Palmoplantar hyperkeratosis	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0007556	HP:0007613	Spinous keratoses of palms and soles	2	CL E G H
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent	57
HP:0007556	HP:0007530	Punctate palmoplantar hyperkeratosis	2	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	7
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	130
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A	.	130
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	254
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	208
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	307
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	75
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	63
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	HP:0040283 - Occasional	63
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	95
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma	HP:0040281 - Very frequent	5
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0007556	HP:0007530	Punctate palmoplantar hyperkeratosis	2	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0007556	HP:0007530	Punctate palmoplantar hyperkeratosis	2	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040282 - Frequent	86
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040282 - Frequent	86
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	204
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris	HP:0040281 - Very frequent	33
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.	4
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	5
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040281 - Very frequent	1371
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	2
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	46
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	104
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4	.	4
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent	10
HP:0007556	HP:0007545	Congenital palmoplantar hyperkeratosis	2	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome	.	50
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent	50
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5	HP:0040283 - Occasional	54
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	263
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1496
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	55
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.	268
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.	16
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040281 - Very frequent	16
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	358
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.	747
HP:0007556	HP:0005588	Patchy palmoplantar hyperkeratosis	2	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome	HP:0040281 - Very frequent	747
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	747
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II	.	747
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040281 - Very frequent	747
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease	.	151
HP:0007556	HP:0007530	Punctate palmoplantar hyperkeratosis	2	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040281 - Very frequent	136
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	36
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	184
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	35
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	HP:0040281 - Very frequent	68
HP:0007556	HP:0005588	Patchy palmoplantar hyperkeratosis	2	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent	68
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3	.	68
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0007556	HP:0007465	Honeycomb palmoplantar hyperkeratosis	2	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040281 - Very frequent	199
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040282 - Frequent	199
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness		199
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	HP:0040282 - Frequent	199
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome	HP:0040281 - Very frequent	199
HP:0007556	HP:0007465	Honeycomb palmoplantar hyperkeratosis	2	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0007556	HP:0005588	Patchy palmoplantar hyperkeratosis	2	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent	74
HP:0007556	HP:0005588	Patchy palmoplantar hyperkeratosis	2	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1	.	74
HP:0007556	HP:0005588	Patchy palmoplantar hyperkeratosis	2	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent	12
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2	.	12
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040282 - Frequent	56
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040282 - Frequent	56
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent	24
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	2
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040281 - Very frequent	222
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.	1
HP:0007556	HP:0005588	Patchy palmoplantar hyperkeratosis	2	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent	4
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	4
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	100
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin	HP:0040281 - Very frequent	100
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040281 - Very frequent	100
HP:0007556	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	2	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040280 - Obligate	100
HP:0007556	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	2	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040281 - Very frequent	100
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	45
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	110
HP:0007556	HP:0007497	Focal friction-related palmoplantar hyperkeratosis	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome	.	110
HP:0007556	HP:0007530	Punctate palmoplantar hyperkeratosis	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	27
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT16 CL E G H	3868	6423	OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal 1	.	27
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	23
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040281 - Very frequent	67
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	173
HP:0007556	HP:0007530	Punctate palmoplantar hyperkeratosis	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.	173
HP:0007556	HP:0007497	Focal friction-related palmoplantar hyperkeratosis	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	41
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3	.	41
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	4
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4	.	4
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	.	4
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	65
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	279
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	286
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional	68
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	645
HP:0007556	HP:0007465	Honeycomb palmoplantar hyperkeratosis	2	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis	HP:0040281 - Very frequent
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	22
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional	78
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1143
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	452
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1269
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	217
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	167
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	60
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6	.	60
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.	37
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040281 - Very frequent	107
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	57
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	47
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10	.	47
HP:0007556	HP:0007465	Honeycomb palmoplantar hyperkeratosis	2	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	.	2
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	POMP CL E G H	51371	20330	ORPHA:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	HP:0040281 - Very frequent	2
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	148
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	241
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	59
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	212
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	363
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040281 - Very frequent	80
HP:0007556	HP:0007447	Diffuse palmoplantar hyperkeratosis	2	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer	.	80
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	RSPO1 CL E G H	284654	21679	ORPHA:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	HP:0040281 - Very frequent	3
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	.	1
HP:0007556	HP:0000982	Palmoplantar keratoderma	2	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1134
HP:0007556