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:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome		57
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf		86
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease		86
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		90
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris		33
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form		263
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome		50
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome		50
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige		16
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSG1 CL E G H	1828	3048	OMIM:148700	Keratosis palmoplantaris striata I		16
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSG1 CL E G H	1828	3048	ORPHA:50942	Striate palmoplantar keratoderma		16
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma		747
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis		747
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome		747
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSP CL E G H	1832	3052	OMIM:607655	Skin fragility-woolly hair syndrome		747
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	DSP CL E G H	1832	3052	ORPHA:50942	Striate palmoplantar keratoderma		747
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa		136
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FGF9 CL E G H	2254	3687	ORPHA:3237	Multiple synostoses syndrome		75
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		52
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GDF5 CL E G H	8200	4220	ORPHA:3237	Multiple synostoses syndrome		52
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis		68
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJA1 CL E G H	2697	4274	OMIM:617525	Erythrokeratodermia variabilis et progressiva 3		68
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans		199
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB2 CL E G H	2706	4284	OMIM:148350	Keratoderma, palmoplantar, with deafness		199
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB2 CL E G H	2706	4284	OMIM:149200	Knuckle pads, leukonychia, and sensorineural deafness		199
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		199
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB2 CL E G H	2706	4284	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome		199
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis		74
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis		12
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB4 CL E G H	127534	4286	OMIM:617524	Erythrokeratodermia variabilis et progressiva 2		12
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome		56
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome		24
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1		55
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis		55
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease		222
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type		141
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KDSR CL E G H	2531	4021	OMIM:617526	Erythrokeratodermia variabilis et progressiva 4		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT1 CL E G H	3848	6412	OMIM:113800	Epidermolytic hyperkeratosis		100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT1 CL E G H	3848	6412	ORPHA:2199	Epidermolytic palmoplantar keratoderma		100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT1 CL E G H	3848	6412	ORPHA:79503	Ichthyosis hystrix of Curth-Macklin		100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT1 CL E G H	3848	6412	OMIM:144200	Palmoplantar keratoderma, epidermolytic		100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT1 CL E G H	3848	6412	OMIM:600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK		100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT1 CL E G H	3848	6412	ORPHA:50942	Striate palmoplantar keratoderma		100
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis		45
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT10 CL E G H	3858	6413	OMIM:113800	Epidermolytic hyperkeratosis		45
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT10 CL E G H	3858	6413	OMIM:607602	Ichthyosis, cyclic, with epidermolytic hyperkeratosis		45
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	OMIM:131800	Epidermolysis bullosa simplex, Weber-Cockayne type		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome		110
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT16 CL E G H	3868	6423	ORPHA:2199	Epidermolytic palmoplantar keratoderma		27
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1		27
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT16 CL E G H	3868	6423	OMIM:613000	Palmoplantar keratoderma, nonepidermolytic, focal 1		27
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis		67
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	OMIM:619555	EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	OMIM:619588	EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	OMIM:619594	EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex		173
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3		41
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT6B CL E G H	3854	6444	OMIM:615728	Pachyonychia congenita 4		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT83 CL E G H	3889	6460	OMIM:617756	Erythrokeratodermia variabilis et progressiva 5		65
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia		65
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT9 CL E G H	3857	6447	ORPHA:2199	Epidermolytic palmoplantar keratoderma		66
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	KRT9 CL E G H	3857	6447	OMIM:144200	Palmoplantar keratoderma, epidermolytic		66
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		22
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MBTPS2 CL E G H	51360	15455	OMIM:300918	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked		22
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MYH3 CL E G H	4621	7573	ORPHA:1147	Sheldon-Hall syndrome		166
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NALCN CL E G H	259232	19082	ORPHA:1147	Sheldon-Hall syndrome		48
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		27
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NIPAL4 CL E G H	348938	28018	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		60
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NIPAL4 CL E G H	348938	28018	OMIM:612281	Ichthyosis, congenital, autosomal recessive 6		60
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing		37
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NOG CL E G H	9241	7866	ORPHA:3237	Multiple synostoses syndrome		22
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1		17
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PERP CL E G H	64065	17637	OMIM:619209	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B		98
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3		77
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome		77
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement		759
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PNPLA1 CL E G H	285848	21246	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		47
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PNPLA1 CL E G H	285848	21246	OMIM:615024	Ichthyosis, congenital, autosomal recessive 10		47
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome		103
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	POMP CL E G H	51371	20330	ORPHA:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome		665
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome		40
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome		80
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	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:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RSPO1 CL E G H	284654	21679	ORPHA:85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SDR9C7 CL E G H	121214	29958	OMIM:617574	Ichthyosis, congenital, autosomal recessive 13		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SERPINA12 CL E G H	145264	18359	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SERPINB7 CL E G H	8710	13902	ORPHA:140966	Palmoplantar keratoderma, Nagashima type		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SERPINB7 CL E G H	8710	13902	OMIM:615598	Palmoplantar keratoderma, Nagashima type		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis		13
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SLURP1 CL E G H	57152	18746	ORPHA:86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type		146
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMARCAD1 CL E G H	56916	18398	OMIM:136000	Fingerprints, absence of		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome		9
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome		124
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2		43
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder		12
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TGM1 CL E G H	7051	11777	ORPHA:100976	Bathing suit ichthyosis		98
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TGM1 CL E G H	7051	11777	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		98
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1		98
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome		5
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TNNI2 CL E G H	7136	11946	ORPHA:1147	Sheldon-Hall syndrome		37
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TNNT3 CL E G H	7140	11950	ORPHA:1147	Sheldon-Hall syndrome		43
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A		54
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TPM2 CL E G H	7169	12011	ORPHA:1147	Sheldon-Hall syndrome		54
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome		27
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRNS1 CL E G H	4574	7497	ORPHA:2202	Palmoplantar keratoderma-deafness syndrome
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia		124
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques		151
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRPV3 CL E G H	162514	18084	OMIM:614594	Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques		151
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TRPV3 CL E G H	162514	18084	OMIM:616400	Palmoplantar keratoderma, nonepidermolytic, focal 2		151
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	WNT10A CL E G H	80326	13829	ORPHA:50944	Schöpf-Schulz-Passarge syndrome		71
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	WNT10A CL E G H	80326	13829	OMIM:224750	Schopf-Schulz-Passarge syndrome		71
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4		71
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0040211	HP:0040211	Abnormal skin morphology of the palm	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0040211	HP:0025538	Palmar edema	1	CL E G H
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome		57
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	AAGAB CL E G H	79719	25662	OMIM:148600	Palmoplantar keratoderma, punctate type IA		7
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1		7
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ABCA12 CL E G H	26154	14637	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		130
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ABCA12 CL E G H	26154	14637	OMIM:601277	Ichthyosis, congenital, autosomal recessive 4A		130
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0040211	HP:0100869	Palmar telangiectasia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ALOX12B CL E G H	242	430	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		75
HP:0040211	HP:0033252	Palmar hyperlinearity	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		63
HP:0040211	HP:0033252	Palmar hyperlinearity	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0040211	HP:0033252	Palmar hyperlinearity	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3		63
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma		5
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis		86
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf		86
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease		86
HP:0040211	HP:0010610	Palmar pits	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0040211	HP:0007605	Excessive wrinkling of palmar skin	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0040211	HP:0007469	Palmoplantar cutis gyrata	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0040211	HP:0007469	Palmoplantar cutis gyrata	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BHLHA9 CL E G H	727857	35126	OMIM:609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction		4
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		90
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0040211	HP:0007605	Excessive wrinkling of palmar skin	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris		33
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads		4
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0040211	HP:0033004	Palmar warts	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0040211	HP:0006089	Palmar hyperhidrosis	1	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1		7
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CERS3 CL E G H	204219	23752	ORPHA:79394	Congenital non-bullous ichthyosiform erythroderma		5
HP:0040211	HP:0033252	Palmar hyperlinearity	1	CERS3 CL E G H	204219	23752	OMIM:615023	Ichthyosis, congenital, autosomal recessive 9		5
HP:0040211	HP:0006089	Palmar hyperhidrosis	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0040211	HP:0010610	Palmar pits	1	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3	HP:0040284 - Very rare
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome		71
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome		71
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1		2
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form		263
HP:0040211	HP:0007446	Palmoplantar blistering	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent	263
HP:0040211	HP:0007446	Palmoplantar blistering	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0040211	HP:0007605	Excessive wrinkling of palmar skin	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	4
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CSTA CL E G H	1475	2481	OMIM:607936	Peeling skin syndrome 4		4
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome		10
HP:0040211	HP:0006089	Palmar hyperhidrosis	1	CTSB CL E G H	1508	2527	OMIM:148370	Keratolytic winter erythema		1
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome		50
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome		50
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CTSC CL E G H	1075	2528	OMIM:245000	Papillon-Lefevre syndrome		50
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0040211	HP:0033252	Palmar hyperlinearity	1	CYP4F22 CL E G H	126410	26820	OMIM:604777	Ichthyosis, congenital, autosomal recessive 5		54
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0040211	HP:0010765	Palmar hyperkeratosis	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0040211	HP:0001018	Abnormal palmar dermatoglyphics	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy o