Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the plantar skin of foot (HP:0100872)

Grandparent Node:
Hyperkeratosis (HP:0000962)

Parent Node:
Palmar hyperkeratosis (HP:0010765)

Parent Node:
Plantar hyperkeratosis (HP:0007556)

..Starting node
..Palmoplantar hyperkeratosis (HP:0000972)

Term ID:

972

Name:

Palmoplantar hyperkeratosis

Synonym:

Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles

Definition:

Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.

Comments:

Reference:

HP:0000972

Genes and Diseases:

Child Nodes:

........

Diffuse palmoplantar hyperkeratosis (HP:0007447)

........

Focal friction-related palmoplantar hyperkeratosis (HP:0007497)

........

Punctate palmoplantar hyperkeratosis (HP:0007530)

........

Congenital palmoplantar keratosis (HP:0007545)

........

Palmoplantar keratosis with erythema and scale (HP:0007548)

........

Congenital symmetrical palmoplantar keratosis (HP:0007553)

........

Spinous keratoses of palms and soles (HP:0007613)

Sister Nodes:

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:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome		57
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	7
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma		5
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf		86
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease		86
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris		33
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	.	71
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	2
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4		4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome		50
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent	50
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome	.	50
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige		16
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma		16
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		747
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome		747
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma		747
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	HP:0040281 - Very frequent	68
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis		68
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3		68
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans		199
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness	.	199
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness		199
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		199
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome		199
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis		74
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis		12
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2		12
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome		24
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis		55
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease		222
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis		4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4	.	4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia		4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis	.	100
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin		100
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic	.	100
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma		100
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis	.	45
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular	.	45
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis	.	45
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040282 - Frequent	110
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.	110
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.	110
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome		110
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1	.	27
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT16 CL E G H	3868	6423	OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal 1		27
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.	23
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis		67
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.	173
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4		4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse		4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT83 CL E G H	3889	6460	OMIM:617756	Erythrokeratodermia variabilis et progressiva 5	.	65
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia		65
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic	.	66
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040283 - Occasional	4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		60
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement		759
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		47
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10		47
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		2
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	POMP CL E G H	51371	20330	ORPHA:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome		2
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome		80
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0000972	HP:0000972	Palmoplantar 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:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	RSPO1 CL E G H	284654	21679	ORPHA:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome		3
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma		1
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SDR9C7 CL E G H	121214	29958	OMIM:617574	Ichthyosis, congenital, autosomal recessive 13	.	2
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SERPINA12 CL E G H	145264	18359	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type		4
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis		13
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SLURP1 CL E G H	57152	18746	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type		15
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome		6
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome		6
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2		43
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis	HP:0040283 - Occasional	98
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		98
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	HP:0040283 - Occasional	98
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome		27
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia		124
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques		151
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TRPV3 CL E G H	162514	18084	OMIM:616400	Palmoplantar keratoderma, nonepidermolytic, focal 2		151
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome		71
HP:0000972	HP:0000972	Palmoplantar hyperkeratosis	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0000972	HP:0007613	Spinous keratoses of palms and soles	1	CL E G H
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent	57
HP:0000972	HP:0007530	Punctate palmoplantar hyperkeratosis	1	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	7
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	130
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A	.	130
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	254
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	208
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	307
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	75
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	63
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3	HP:0040283 - Occasional	63
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	95
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma	HP:0040281 - Very frequent	5
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0000972	HP:0007530	Punctate palmoplantar hyperkeratosis	1	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0000972	HP:0007530	Punctate palmoplantar hyperkeratosis	1	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040282 - Frequent	86
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040282 - Frequent	86
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	204
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris	HP:0040281 - Very frequent	33
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.	4
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	5
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040281 - Very frequent	1371
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent	2
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	46
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	104
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4	.	4
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent	10
HP:0000972	HP:0007545	Congenital palmoplantar hyperkeratosis	1	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome	.	50
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040281 - Very frequent	50
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5	HP:0040283 - Occasional	54
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	263
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1496
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	55
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.	268
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	.	16
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040281 - Very frequent	16
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	358
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.	747
HP:0000972	HP:0005588	Patchy palmoplantar hyperkeratosis	1	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome	HP:0040281 - Very frequent	747
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	747
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II	.	747
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040281 - Very frequent	747
HP:0000972	HP:0007530	Punctate palmoplantar hyperkeratosis	1	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease	.	151
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040281 - Very frequent	136
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	36
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	184
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	35
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	HP:0040281 - Very frequent	68
HP:0000972	HP:0005588	Patchy palmoplantar hyperkeratosis	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent	68
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3	.	68
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0000972	HP:0007465	Honeycomb palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040281 - Very frequent	199
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040282 - Frequent	199
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness		199
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	HP:0040282 - Frequent	199
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome	HP:0040281 - Very frequent	199
HP:0000972	HP:0007465	Honeycomb palmoplantar hyperkeratosis	1	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0000972	HP:0005588	Patchy palmoplantar hyperkeratosis	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent	74
HP:0000972	HP:0005588	Patchy palmoplantar hyperkeratosis	1	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1	.	74
HP:0000972	HP:0005588	Patchy palmoplantar hyperkeratosis	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent	12
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2	.	12
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia	HP:0040282 - Frequent	56
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040282 - Frequent	56
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent	24
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	2
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040281 - Very frequent	222
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.	222
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair	.	1
HP:0000972	HP:0005588	Patchy palmoplantar hyperkeratosis	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent	4
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	4
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	100
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin	HP:0040281 - Very frequent	100
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0000972	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040280 - Obligate	100
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040281 - Very frequent	100
HP:0000972	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	1	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma	HP:0040281 - Very frequent	100
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional	45
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	110
HP:0000972	HP:0007497	Focal friction-related palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome	.	110
HP:0000972	HP:0007530	Punctate palmoplantar hyperkeratosis	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	27
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT16 CL E G H	3868	6423	OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal 1	.	27
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	23
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040281 - Very frequent	67
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040281 - Very frequent	173
HP:0000972	HP:0007530	Punctate palmoplantar hyperkeratosis	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.	173
HP:0000972	HP:0007497	Focal friction-related palmoplantar hyperkeratosis	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	41
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3	.	41
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	4
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4	.	4
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	.	4
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	65
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	279
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	286
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional	68
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	645
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0000972	HP:0007465	Honeycomb palmoplantar hyperkeratosis	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis	HP:0040281 - Very frequent
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	22
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	.	22
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional	78
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1143
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	452
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1269
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	217
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	167
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	60
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6	.	60
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	.	37
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040281 - Very frequent	107
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	57
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	47
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10	.	47
HP:0000972	HP:0007465	Honeycomb palmoplantar hyperkeratosis	1	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	.	2
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	POMP CL E G H	51371	20330	ORPHA:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	HP:0040281 - Very frequent	2
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	148
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	241
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	59
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	212
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	363
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040281 - Very frequent	80
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer	.	80
HP:0000972	HP:0000982	Palmoplantar keratoderma	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:0000972	HP:0000982	Palmoplantar keratoderma	1	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:0000972	HP:0000982	Palmoplantar keratoderma	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	.	1
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1134
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	304
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	SERPINA12 CL E G H	145264	18359	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	HP:0040281 - Very frequent
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type	HP:0040281 - Very frequent	4
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	223
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	13
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	SLURP1 CL E G H	57152	18746	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	HP:0040281 - Very frequent	15
HP:0000972	HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	1	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0000972	HP:0007553	Congenital symmetrical palmoplantar keratosis	1	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0000972	HP:0007545	Congenital palmoplantar hyperkeratosis	1	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome		6
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome	HP:0040281 - Very frequent	6
HP:0000972	HP:0007447	Diffuse palmoplantar hyperkeratosis	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent	94
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional	80
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040281 - Very frequent	43
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	78
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma	HP:0040282 - Frequent	98
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	136
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	73
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	180
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	230
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent	27
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome	HP:0040281 - Very frequent
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent	124
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent	151
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques	.	151
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TRPV3 CL E G H	162514	18084	OMIM:616400	Palmoplantar keratoderma, nonepidermolytic, focal 2	.	151
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	7128
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	85
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0000972	HP:0007545	Congenital palmoplantar hyperkeratosis	1	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome	HP:0040281 - Very frequent	71
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome	.	71
HP:0000972	HP:0000982	Palmoplantar keratoderma	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40

Genes (164) :AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 AKT1 ALOX12B ALOXE3 ANKRD1 AP1B1 AQP5 ATP2A2 BAG3 BAG5 BRAF CAP2 CARD14 CAST CD28 CERS3 CFTR COG6 COL14A1 COL17A1 COL7A1 CRYAB CSRP3 CSTA CTC1 CTLA4 CTSC CYP4F22 DES DKC1 DMD DOLK DSC2 DSG1 DSG2 DSP ENPP1 FERMT1 FGFR2 FHL2 FIG4 FKTN GATAD1 GJA1 GJB2 GJB3 GJB4 GJB6 GMPPA HAND2 HPGD ITGB4 JUP KANK2 KDSR KLHL24 KLLN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LEMD3 LMNA LORICRIN MAP2K1 MAP2K2 MBTPS2 MCOLN1 MTX2 MYBPC3 MYH6 MYH7 MYPN NECTIN1 NEXN NHP2 NIPAL4 NLRP1 NOP10 NPM1 PARN PEPD PERP PIGL PIK3CA PKP1 PLEC PLN PNPLA1 POMP PPCS PRDM16 PSEN1 PSEN2 PTEN RAF1 RBM20 RHBDF2 RSPO1 RTEL1 SASH1 SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SERPINA12 SERPINB7 SGCD SLCO2A1 SLURP1 SMARCAD1 SNAP29 SRD5A3 STS TAF1A TAFAZZIN TAT TCAP TERC TERT TGM1 TINF2 TMPO TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAPPC11 TRNS1 TRPM4 TRPV3 TTN TXNRD2 TYMS USB1 USF3 VCL VPS33B WNT10A WRAP53

Diseases (158) :OMIM:231550 ORPHA:869 OMIM:148600 ORPHA:79501 ORPHA:79394 OMIM:601277 ORPHA:154 ORPHA:201 OMIM:615109 OMIM:242100 OMIM:606545 OMIM:242150 ORPHA:2337 OMIM:600231 OMIM:101900 ORPHA:79151 ORPHA:218 ORPHA:1340 OMIM:173200 ORPHA:2897 OMIM:616295 ORPHA:3162 ORPHA:498359 ORPHA:363523 OMIM:615328 ORPHA:79402 ORPHA:158673 OMIM:607936 ORPHA:1775 OMIM:245010 ORPHA:678 OMIM:245000 OMIM:604777 OMIM:610476 OMIM:615508 OMIM:148700 ORPHA:50942 OMIM:605676 OMIM:615821 ORPHA:65282 OMIM:612908 OMIM:607655 OMIM:615522 ORPHA:2908 OMIM:173650 ORPHA:1555 OMIM:216340 ORPHA:1010 ORPHA:317 OMIM:617525 ORPHA:2710 OMIM:104100 OMIM:602540 ORPHA:494 OMIM:148350 ORPHA:477 OMIM:149200 ORPHA:2698 ORPHA:2202 OMIM:124500 OMIM:133200 OMIM:617524 OMIM:129500 ORPHA:189 OMIM:259100 ORPHA:2796 OMIM:601214 ORPHA:34217 OMIM:616099 OMIM:617526 ORPHA:316 OMIM:617294 ORPHA:312 OMIM:113800 ORPHA:2199 ORPHA:79503 OMIM:607654 ORPHA:530838 OMIM:144200 OMIM:600962 OMIM:609165 OMIM:607602 ORPHA:79396 ORPHA:89838 OMIM:125595 OMIM:131760 OMIM:131900 ORPHA:79400 OMIM:161000 ORPHA:69087 ORPHA:2309 OMIM:167200 OMIM:613000 OMIM:167210 ORPHA:455 OMIM:619555 OMIM:131960 OMIM:615726 OMIM:615728 OMIM:615735 OMIM:617756 ORPHA:1306 ORPHA:79395 OMIM:615280 OMIM:308800 ORPHA:659 OMIM:300918 ORPHA:578 OMIM:619127 OMIM:225060 ORPHA:3253 OMIM:224230 OMIM:612281 OMIM:617388 OMIM:615225 ORPHA:742 OMIM:619209 OMIM:619208 OMIM:280000 OMIM:615108 ORPHA:158668 OMIM:604536 OMIM:226670 ORPHA:79401 OMIM:615024 OMIM:601952 ORPHA:281201 OMIM:158350 ORPHA:2198 OMIM:148500 OMIM:610644 ORPHA:85112 OMIM:618373 OMIM:617574 ORPHA:86923 ORPHA:140966 ORPHA:87503 OMIM:248300 OMIM:129200 OMIM:181600 ORPHA:384 ORPHA:66631 OMIM:609528 ORPHA:324737 OMIM:308100 ORPHA:28378 OMIM:613989 ORPHA:100976 OMIM:242300 OMIM:106260 OMIM:129400 OMIM:614594 OMIM:616400 OMIM:604173 OMIM:620009 OMIM:257980 ORPHA:50944 OMIM:224750

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

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