Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011355	HP:0011355	Localized skin lesion	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1			7
HP:0011355	HP:0011355	Localized skin lesion	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency			191
HP:0011355	HP:0011355	Localized skin lesion	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0011355	HP:0011355	Localized skin lesion	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria			20
HP:0011355	HP:0011355	Localized skin lesion	0	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3			20
HP:0011355	HP:0011355	Localized skin lesion	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0011355	HP:0011355	Localized skin lesion	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0011355	HP:0011355	Localized skin lesion	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0011355	HP:0011355	Localized skin lesion	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0011355	HP:0011355	Localized skin lesion	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0011355	HP:0011355	Localized skin lesion	0	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2			67
HP:0011355	HP:0011355	Localized skin lesion	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0011355	HP:0011355	Localized skin lesion	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0011355	HP:0011355	Localized skin lesion	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0011355	HP:0011355	Localized skin lesion	0	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma			11
HP:0011355	HP:0011355	Localized skin lesion	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011355	HP:0011355	Localized skin lesion	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0011355	HP:0011355	Localized skin lesion	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome			72
HP:0011355	HP:0011355	Localized skin lesion	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0011355	HP:0011355	Localized skin lesion	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011355	HP:0011355	Localized skin lesion	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011355	HP:0011355	Localized skin lesion	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0011355	HP:0011355	Localized skin lesion	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0011355	HP:0011355	Localized skin lesion	0	ADAR CL E G H	103	225	ORPHA:41	Dyschromatosis symmetrica hereditaria			116
HP:0011355	HP:0011355	Localized skin lesion	0	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1			116
HP:0011355	HP:0011355	Localized skin lesion	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011355	HP:0011355	Localized skin lesion	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011355	HP:0011355	Localized skin lesion	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011355	HP:0011355	Localized skin lesion	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0011355	HP:0011355	Localized skin lesion	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0011355	HP:0011355	Localized skin lesion	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0011355	HP:0011355	Localized skin lesion	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0011355	HP:0011355	Localized skin lesion	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1			92
HP:0011355	HP:0011355	Localized skin lesion	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0011355	HP:0011355	Localized skin lesion	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011355	HP:0011355	Localized skin lesion	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6			54
HP:0011355	HP:0011355	Localized skin lesion	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011355	HP:0011355	Localized skin lesion	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0011355	HP:0011355	Localized skin lesion	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0011355	HP:0011355	Localized skin lesion	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011355	HP:0011355	Localized skin lesion	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood			126
HP:0011355	HP:0011355	Localized skin lesion	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0011355	HP:0011355	Localized skin lesion	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011355	HP:0011355	Localized skin lesion	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011355	HP:0011355	Localized skin lesion	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011355	HP:0011355	Localized skin lesion	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina			132
HP:0011355	HP:0011355	Localized skin lesion	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011355	HP:0011355	Localized skin lesion	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2			132
HP:0011355	HP:0011355	Localized skin lesion	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011355	HP:0011355	Localized skin lesion	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011355	HP:0011355	Localized skin lesion	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0011355	HP:0011355	Localized skin lesion	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0011355	HP:0011355	Localized skin lesion	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011355	HP:0011355	Localized skin lesion	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0011355	HP:0011355	Localized skin lesion	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011355	HP:0011355	Localized skin lesion	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0011355	HP:0011355	Localized skin lesion	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0011355	HP:0011355	Localized skin lesion	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0011355	HP:0011355	Localized skin lesion	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011355	HP:0011355	Localized skin lesion	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011355	HP:0011355	Localized skin lesion	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0011355	HP:0011355	Localized skin lesion	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011355	HP:0011355	Localized skin lesion	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011355	HP:0011355	Localized skin lesion	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011355	HP:0011355	Localized skin lesion	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency			40
HP:0011355	HP:0011355	Localized skin lesion	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2			40
HP:0011355	HP:0011355	Localized skin lesion	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1			9
HP:0011355	HP:0011355	Localized skin lesion	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial			7
HP:0011355	HP:0011355	Localized skin lesion	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0011355	HP:0011355	Localized skin lesion	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2			356
HP:0011355	HP:0011355	Localized skin lesion	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0011355	HP:0011355	Localized skin lesion	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0011355	HP:0011355	Localized skin lesion	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0011355	HP:0011355	Localized skin lesion	0	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma			5
HP:0011355	HP:0011355	Localized skin lesion	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia
HP:0011355	HP:0011355	Localized skin lesion	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia			179
HP:0011355	HP:0011355	Localized skin lesion	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0011355	HP:0011355	Localized skin lesion	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011355	HP:0011355	Localized skin lesion	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0011355	HP:0011355	Localized skin lesion	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011355	HP:0011355	Localized skin lesion	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0011355	HP:0011355	Localized skin lesion	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0011355	HP:0011355	Localized skin lesion	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0011355	HP:0011355	Localized skin lesion	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0011355	HP:0011355	Localized skin lesion	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011355	HP:0011355	Localized skin lesion	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0011355	HP:0011355	Localized skin lesion	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0011355	HP:0011355	Localized skin lesion	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011355	HP:0011355	Localized skin lesion	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011355	HP:0011355	Localized skin lesion	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0011355	HP:0011355	Localized skin lesion	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0011355	HP:0011355	Localized skin lesion	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0011355	HP:0011355	Localized skin lesion	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0011355	HP:0011355	Localized skin lesion	0	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis			86
HP:0011355	HP:0011355	Localized skin lesion	0	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf			86
HP:0011355	HP:0011355	Localized skin lesion	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease			86
HP:0011355	HP:0011355	Localized skin lesion	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011355	HP:0011355	Localized skin lesion	0	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus			56
HP:0011355	HP:0011355	Localized skin lesion	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011355	HP:0011355	Localized skin lesion	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0011355	HP:0011355	Localized skin lesion	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0011355	HP:0011355	Localized skin lesion	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011355	HP:0011355	Localized skin lesion	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011355	HP:0011355	Localized skin lesion	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43			8
HP:0011355	HP:0011355	Localized skin lesion	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0011355	HP:0011355	Localized skin lesion	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0011355	HP:0011355	Localized skin lesion	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011355	HP:0011355	Localized skin lesion	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011355	HP:0011355	Localized skin lesion	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011355	HP:0011355	Localized skin lesion	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0011355	HP:0011355	Localized skin lesion	0	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma			184
HP:0011355	HP:0011355	Localized skin lesion	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011355	HP:0011355	Localized skin lesion	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0011355	HP:0011355	Localized skin lesion	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0011355	HP:0011355	Localized skin lesion	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0011355	HP:0011355	Localized skin lesion	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0011355	HP:0011355	Localized skin lesion	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0011355	HP:0011355	Localized skin lesion	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0011355	HP:0011355	Localized skin lesion	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011355	HP:0011355	Localized skin lesion	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0011355	HP:0011355	Localized skin lesion	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011355	HP:0011355	Localized skin lesion	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita			1
HP:0011355	HP:0011355	Localized skin lesion	0	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC			1
HP:0011355	HP:0011355	Localized skin lesion	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011355	HP:0011355	Localized skin lesion	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011355	HP:0011355	Localized skin lesion	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011355	HP:0011355	Localized skin lesion	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011355	HP:0011355	Localized skin lesion	0	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant			276
HP:0011355	HP:0011355	Localized skin lesion	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011355	HP:0011355	Localized skin lesion	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011355	HP:0011355	Localized skin lesion	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011355	HP:0011355	Localized skin lesion	0	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum			276
HP:0011355	HP:0011355	Localized skin lesion	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0011355	HP:0011355	Localized skin lesion	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0011355	HP:0011355	Localized skin lesion	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0011355	HP:0011355	Localized skin lesion	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0011355	HP:0011355	Localized skin lesion	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0011355	HP:0011355	Localized skin lesion	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0011355	HP:0011355	Localized skin lesion	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0011355	HP:0011355	Localized skin lesion	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011355	HP:0011355	Localized skin lesion	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011355	HP:0011355	Localized skin lesion	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0011355	HP:0011355	Localized skin lesion	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0011355	HP:0011355	Localized skin lesion	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0011355	HP:0011355	Localized skin lesion	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0011355	HP:0011355	Localized skin lesion	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011355	HP:0011355	Localized skin lesion	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011355	HP:0011355	Localized skin lesion	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011355	HP:0011355	Localized skin lesion	0	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris			33
HP:0011355	HP:0011355	Localized skin lesion	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris			33
HP:0011355	HP:0011355	Localized skin lesion	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0011355	HP:0011355	Localized skin lesion	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011355	HP:0011355	Localized skin lesion	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0011355	HP:0011355	Localized skin lesion	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis			11
HP:0011355	HP:0011355	Localized skin lesion	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011355	HP:0011355	Localized skin lesion	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011355	HP:0011355	Localized skin lesion	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011355	HP:0011355	Localized skin lesion	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011355	HP:0011355	Localized skin lesion	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0011355	HP:0011355	Localized skin lesion	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011355	HP:0011355	Localized skin lesion	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0011355	HP:0011355	Localized skin lesion	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0011355	HP:0011355	Localized skin lesion	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0011355	HP:0011355	Localized skin lesion	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0011355	HP:0011355	Localized skin lesion	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia			56
HP:0011355	HP:0011355	Localized skin lesion	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive			56
HP:0011355	HP:0011355	Localized skin lesion	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0011355	HP:0011355	Localized skin lesion	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0011355	HP:0011355	Localized skin lesion	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0011355	HP:0011355	Localized skin lesion	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011355	HP:0011355	Localized skin lesion	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0011355	HP:0011355	Localized skin lesion	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0011355	HP:0011355	Localized skin lesion	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011355	HP:0011355	Localized skin lesion	0	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma			145
HP:0011355	HP:0011355	Localized skin lesion	0	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3			145
HP:0011355	HP:0011355	Localized skin lesion	0	CDK4 CL E G H	1019	1773	ORPHA:99971	Well-differentiated liposarcoma			145
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma			289
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma			1
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011355	HP:0011355	Localized skin lesion	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011355	HP:0011355	Localized skin lesion	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011355	HP:0011355	Localized skin lesion	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011355	HP:0011355	Localized skin lesion	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0011355	HP:0011355	Localized skin lesion	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0011355	HP:0011355	Localized skin lesion	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma			1371
HP:0011355	HP:0011355	Localized skin lesion	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011355	HP:0011355	Localized skin lesion	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011355	HP:0011355	Localized skin lesion	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0011355	HP:0011355	Localized skin lesion	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0011355	HP:0011355	Localized skin lesion	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0011355	HP:0011355	Localized skin lesion	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0011355	HP:0011355	Localized skin lesion	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0011355	HP:0011355	Localized skin lesion	0	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0011355	HP:0011355	Localized skin lesion	0	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3
HP:0011355	HP:0011355	Localized skin lesion	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0011355	HP:0011355	Localized skin lesion	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0011355	HP:0011355	Localized skin lesion	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011355	HP:0011355	Localized skin lesion	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0011355	HP:0011355	Localized skin lesion	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0011355	HP:0011355	Localized skin lesion	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0011355	HP:0011355	Localized skin lesion	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0011355	HP:0011355	Localized skin lesion	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0011355	HP:0011355	Localized skin lesion	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0011355	HP:0011355	Localized skin lesion	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0011355	HP:0011355	Localized skin lesion	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0011355	HP:0011355	Localized skin lesion	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1			2
HP:0011355	HP:0011355	Localized skin lesion	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011355	HP:0011355	Localized skin lesion	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011355	HP:0011355	Localized skin lesion	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0011355	HP:0011355	Localized skin lesion	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans			373
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0011355	HP:0011355	Localized skin lesion	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0011355	HP:0011355	Localized skin lesion	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0011355	HP:0011355	Localized skin lesion	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0011355	HP:0011355	Localized skin lesion	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis			284
HP:0011355	HP:0011355	Localized skin lesion	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0011355	HP:0011355	Localized skin lesion	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0011355	HP:0011355	Localized skin lesion	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria			749
HP:0011355	HP:0011355	Localized skin lesion	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011355	HP:0011355	Localized skin lesion	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0011355	HP:0011355	Localized skin lesion	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011355	HP:0011355	Localized skin lesion	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0011355	HP:0011355	Localized skin lesion	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0011355	Localized skin lesion	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0011355	HP:0011355	Localized skin lesion	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0011355	HP:0011355	Localized skin lesion	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0011355	Localized skin lesion	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0011355	HP:0011355	Localized skin lesion	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0011355	HP:0011355	Localized skin lesion	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040281 - Very frequent		263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent		263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0011355	HP:0011355	Localized skin lesion	0	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn			263
HP:0011355	HP:0011355	Localized skin lesion	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0011355	HP:0011355	Localized skin lesion	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011355	HP:0011355	Localized skin lesion	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0011355	HP:0011355	Localized skin lesion	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0011355	HP:0011355	Localized skin lesion	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0011355	HP:0011355	Localized skin lesion	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0011355	HP:0011355	Localized skin lesion	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011355	HP:0011355	Localized skin lesion	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0011355	HP:0011355	Localized skin lesion	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011355	HP:0011355	Localized skin lesion	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011355	HP:0011355	Localized skin lesion	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0011355	HP:0011355	Localized skin lesion	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome			4
HP:0011355	HP:0011355	Localized skin lesion	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011355	HP:0011355	Localized skin lesion	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0011355	HP:0011355	Localized skin lesion	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011355	HP:0011355	Localized skin lesion	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011355	HP:0011355	Localized skin lesion	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0011355	HP:0011355	Localized skin lesion	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0011355	HP:0011355	Localized skin lesion	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0011355	HP:0011355	Localized skin lesion	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0011355	HP:0011355	Localized skin lesion	0	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma			88
HP:0011355	HP:0011355	Localized skin lesion	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0011355	HP:0011355	Localized skin lesion	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011355	HP:0011355	Localized skin lesion	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0011355	HP:0011355	Localized skin lesion	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011355	HP:0011355	Localized skin lesion	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011355	HP:0011355	Localized skin lesion	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0011355	HP:0011355	Localized skin lesion	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0011355	HP:0011355	Localized skin lesion	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0011355	HP:0011355	Localized skin lesion	0	CYLD CL E G H	1540	2584	OMIM:605041	Brooke-Spiegler syndrome			126
HP:0011355	HP:0011355	Localized skin lesion	0	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis			126
HP:0011355	HP:0011355	Localized skin lesion	0	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma			126
HP:0011355	HP:0011355	Localized skin lesion	0	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma			101
HP:0011355	HP:0011355	Localized skin lesion	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV			2
HP:0011355	HP:0011355	Localized skin lesion	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0011355	HP:0011355	Localized skin lesion	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011355	HP:0011355	Localized skin lesion	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0011355	HP:0011355	Localized skin lesion	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011355	HP:0011355	Localized skin lesion	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0011355	HP:0011355	Localized skin lesion	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E			30
HP:0011355	HP:0011355	Localized skin lesion	0	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma
HP:0011355	HP:0011355	Localized skin lesion	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0011355	HP:0011355	Localized skin lesion	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0011355	HP:0011355	Localized skin lesion	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0011355	HP:0011355	Localized skin lesion	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0011355	HP:0011355	Localized skin lesion	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0011355	HP:0011355	Localized skin lesion	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0011355	HP:0011355	Localized skin lesion	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0011355	HP:0011355	Localized skin lesion	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0011355	HP:0011355	Localized skin lesion	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0011355	HP:0011355	Localized skin lesion	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011355	HP:0011355	Localized skin lesion	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011355	HP:0011355	Localized skin lesion	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0011355	HP:0011355	Localized skin lesion	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0011355	HP:0011355	Localized skin lesion	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0011355	HP:0011355	Localized skin lesion	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita			9
HP:0011355	HP:0011355	Localized skin lesion	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0011355	HP:0011355	Localized skin lesion	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011355	HP:0011355	Localized skin lesion	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency			217
HP:0011355	HP:0011355	Localized skin lesion	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0011355	HP:0011355	Localized skin lesion	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0011355	HP:0011355	Localized skin lesion	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011355	HP:0011355	Localized skin lesion	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0011355	HP:0011355	Localized skin lesion	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011355	HP:0011355	Localized skin lesion	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0011355	HP:0011355	Localized skin lesion	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011355	HP:0011355	Localized skin lesion	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0011355	HP:0011355	Localized skin lesion	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011355	HP:0011355	Localized skin lesion	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011355	HP:0011355	Localized skin lesion	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0011355	HP:0011355	Localized skin lesion	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011355	HP:0011355	Localized skin lesion	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0011355	HP:0011355	Localized skin lesion	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0011355	HP:0011355	Localized skin lesion	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0011355	HP:0011355	Localized skin lesion	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011355	HP:0011355	Localized skin lesion	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis			14
HP:0011355	HP:0011355	Localized skin lesion	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011355	HP:0011355	Localized skin lesion	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011355	HP:0011355	Localized skin lesion	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			86
HP:0011355	HP:0011355	Localized skin lesion	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			56
HP:0011355	HP:0011355	Localized skin lesion	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011355	HP:0011355	Localized skin lesion	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B			67
HP:0011355	HP:0011355	Localized skin lesion	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011355	HP:0011355	Localized skin lesion	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2			55
HP:0011355	HP:0011355	Localized skin lesion	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome			55
HP:0011355	HP:0011355	Localized skin lesion	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011355	HP:0011355	Localized skin lesion	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0011355	HP:0011355	Localized skin lesion	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0011355	HP:0011355	Localized skin lesion	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2			257
HP:0011355	HP:0011355	Localized skin lesion	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0011355	HP:0011355	Localized skin lesion	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0011355	HP:0011355	Localized skin lesion	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0011355	HP:0011355	Localized skin lesion	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011355	HP:0011355	Localized skin lesion	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34			62
HP:0011355	HP:0011355	Localized skin lesion	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease			151
HP:0011355	HP:0011355	Localized skin lesion	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0011355	HP:0011355	Localized skin lesion	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0011355	HP:0011355	Localized skin lesion	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011355	HP:0011355	Localized skin lesion	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011355	HP:0011355	Localized skin lesion	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011355	HP:0011355	Localized skin lesion	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0011355	HP:0011355	Localized skin lesion	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0011355	HP:0011355	Localized skin lesion	0	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2			3
HP:0011355	HP:0011355	Localized skin lesion	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease			3
HP:0011355	HP:0011355	Localized skin lesion	0	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1			1
HP:0011355	HP:0011355	Localized skin lesion	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F			158
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0011355	HP:0011355	Localized skin lesion	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0011355	HP:0011355	Localized skin lesion	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0011355	HP:0011355	Localized skin lesion	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0011355	HP:0011355	Localized skin lesion	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia			36
HP:0011355	HP:0011355	Localized skin lesion	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0011355	HP:0011355	Localized skin lesion	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0011355	HP:0011355	Localized skin lesion	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0011355	HP:0011355	Localized skin lesion	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0011355	HP:0011355	Localized skin lesion	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0011355	HP:0011355	Localized skin lesion	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0011355	HP:0011355	Localized skin lesion	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0011355	HP:0011355	Localized skin lesion	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0011355	HP:0011355	Localized skin lesion	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0011355	HP:0011355	Localized skin lesion	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0011355	HP:0011355	Localized skin lesion	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011355	HP:0011355	Localized skin lesion	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency			28
HP:0011355	HP:0011355	Localized skin lesion	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0011355	HP:0011355	Localized skin lesion	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0011355	HP:0011355	Localized skin lesion	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0011355	HP:0011355	Localized skin lesion	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0011355	HP:0011355	Localized skin lesion	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0011355	HP:0011355	Localized skin lesion	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0011355	HP:0011355	Localized skin lesion	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0011355	HP:0011355	Localized skin lesion	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0011355	HP:0011355	Localized skin lesion	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0011355	HP:0011355	Localized skin lesion	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0011355	HP:0011355	Localized skin lesion	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0011355	HP:0011355	Localized skin lesion	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0011355	HP:0011355	Localized skin lesion	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011355	HP:0011355	Localized skin lesion	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0011355	HP:0011355	Localized skin lesion	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0011355	HP:0011355	Localized skin lesion	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0011355	HP:0011355	Localized skin lesion	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0011355	HP:0011355	Localized skin lesion	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0011355	HP:0011355	Localized skin lesion	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0011355	HP:0011355	Localized skin lesion	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0011355	HP:0011355	Localized skin lesion	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0011355	HP:0011355	Localized skin lesion	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0011355	HP:0011355	Localized skin lesion	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0011355	HP:0011355	Localized skin lesion	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0011355	HP:0011355	Localized skin lesion	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0011355	HP:0011355	Localized skin lesion	0	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0011355	HP:0011355	Localized skin lesion	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0011355	HP:0011355	Localized skin lesion	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0011355	HP:0011355	Localized skin lesion	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0011355	HP:0011355	Localized skin lesion	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0011355	HP:0011355	Localized skin lesion	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0011355	HP:0011355	Localized skin lesion	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia			18
HP:0011355	HP:0011355	Localized skin lesion	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia			18
HP:0011355	HP:0011355	Localized skin lesion	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0011355	HP:0011355	Localized skin lesion	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011355	HP:0011355	Localized skin lesion	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011355	HP:0011355	Localized skin lesion	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0011355	HP:0011355	Localized skin lesion	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0011355	HP:0011355	Localized skin lesion	0	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans			145
HP:0011355	HP:0011355	Localized skin lesion	0	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic			145
HP:0011355	HP:0011355	Localized skin lesion	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0011355	HP:0011355	Localized skin lesion	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome			61
HP:0011355	HP:0011355	Localized skin lesion	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0011355	HP:0011355	Localized skin lesion	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome			332
HP:0011355	HP:0011355	Localized skin lesion	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0011355	HP:0011355	Localized skin lesion	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia			493
HP:0011355	HP:0011355	Localized skin lesion	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0011355	HP:0011355	Localized skin lesion	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011355	HP:0011355	Localized skin lesion	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome			493
HP:0011355	HP:0011355	Localized skin lesion	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0011355	HP:0011355	Localized skin lesion	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0011355	HP:0011355	Localized skin lesion	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0011355	HP:0011355	Localized skin lesion	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0011355	HP:0011355	Localized skin lesion	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011355	HP:0011355	Localized skin lesion	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0011355	HP:0011355	Localized skin lesion	0	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma			105
HP:0011355	HP:0011355	Localized skin lesion	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0011355	HP:0011355	Localized skin lesion	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0011355	HP:0011355	Localized skin lesion	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011355	HP:0011355	Localized skin lesion	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0011355	HP:0011355	Localized skin lesion	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011355	HP:0011355	Localized skin lesion	0	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0011355	HP:0011355	Localized skin lesion	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0011355	HP:0011355	Localized skin lesion	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0011355	HP:0011355	Localized skin lesion	0	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0011355	HP:0011355	Localized skin lesion	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0011355	HP:0011355	Localized skin lesion	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease			86
HP:0011355	HP:0011355	Localized skin lesion	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0011355	HP:0011355	Localized skin lesion	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0011355	HP:0011355	Localized skin lesion	0	GGCX CL E G H	2677	4247	ORPHA:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency			129
HP:0011355	HP:0011355	Localized skin lesion	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY			129
HP:0011355	HP:0011355	Localized skin lesion	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa			129
HP:0011355	HP:0011355	Localized skin lesion	0	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1			98
HP:0011355	HP:0011355	Localized skin lesion	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011355	HP:0011355	Localized skin lesion	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0011355	HP:0011355	Localized skin lesion	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0011355	HP:0011355	Localized skin lesion	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011355	HP:0011355	Localized skin lesion	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0011355	HP:0011355	Localized skin lesion	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011355	HP:0011355	Localized skin lesion	0	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0011355	HP:0011355	Localized skin lesion	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0011355	HP:0011355	Localized skin lesion	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0011355	HP:0011355	Localized skin lesion	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011355	HP:0011355	Localized skin lesion	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011355	HP:0011355	Localized skin lesion	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0011355	HP:0011355	Localized skin lesion	0	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040283 - Occasional		37
HP:0011355	HP:0011355	Localized skin lesion	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0011355	HP:0011355	Localized skin lesion	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0011355	HP:0011355	Localized skin lesion	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040282 - Frequent
HP:0011355	HP:0011355	Localized skin lesion	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0011355	HP:0011355	Localized skin lesion	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0011355	HP:0011355	Localized skin lesion	0	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple			7
HP:0011355	HP:0011355	Localized skin lesion	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0011355	HP:0011355	Localized skin lesion	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011355	HP:0011355	Localized skin lesion	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0011355	HP:0011355	Localized skin lesion	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0011355	HP:0011355	Localized skin lesion	0	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive			101
HP:0011355	HP:0011355	Localized skin lesion	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia			101
HP:0011355	HP:0011355	Localized skin lesion	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0011355	HP:0011355	Localized skin lesion	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0011355	HP:0011355	Localized skin lesion	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0011355	HP:0011355	Localized skin lesion	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011355	HP:0011355	Localized skin lesion	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0011355	HP:0011355	Localized skin lesion	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011355	HP:0011355	Localized skin lesion	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011355	HP:0011355	Localized skin lesion	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011355	HP:0011355	Localized skin lesion	0	GPNMB CL E G H	10457	4462	OMIM:617920	Amyloidosis, primary localized cutaneous, 3
HP:0011355	HP:0011355	Localized skin lesion	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0011355	HP:0011355	Localized skin lesion	0	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome			12
HP:0011355	HP:0011355	Localized skin lesion	0	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2			12
HP:0011355	HP:0011355	Localized skin lesion	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0011355	HP:0011355	Localized skin lesion	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011355	HP:0011355	Localized skin lesion	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0011355	HP:0011355	Localized skin lesion	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0011355	HP:0011355	Localized skin lesion	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011355	HP:0011355	Localized skin lesion	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011355	HP:0011355	Localized skin lesion	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011355	HP:0011355	Localized skin lesion	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0011355	HP:0011355	Localized skin lesion	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0011355	HP:0011355	Localized skin lesion	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0011355	HP:0011355	Localized skin lesion	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0011355	HP:0011355	Localized skin lesion	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0011355	HP:0011355	Localized skin lesion	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0011355	HP:0011355	Localized skin lesion	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011355	HP:0011355	Localized skin lesion	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011355	HP:0011355	Localized skin lesion	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0011355	HP:0011355	Localized skin lesion	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0011355	HP:0011355	Localized skin lesion	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011355	HP:0011355	Localized skin lesion	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid			2
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis			2
HP:0011355	HP:0011355	Localized skin lesion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0011355	HP:0011355	Localized skin lesion	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011355	HP:0011355	Localized skin lesion	0	HMGA2 CL E G H	8091	5009	ORPHA:99971	Well-differentiated liposarcoma			2
HP:0011355	HP:0011355	Localized skin lesion	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0011355	HP:0011355	Localized skin lesion	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0011355	HP:0011355	Localized skin lesion	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0011355	HP:0011355	Localized skin lesion	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011355	HP:0011355	Localized skin lesion	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0011355	HP:0011355	Localized skin lesion	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0011355	HP:0011355	Localized skin lesion	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011355	HP:0011355	Localized skin lesion	0	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic			113
HP:0011355	HP:0011355	Localized skin lesion	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011355	HP:0011355	Localized skin lesion	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital			113
HP:0011355	HP:0011355	Localized skin lesion	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011355	HP:0011355	Localized skin lesion	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0011355	HP:0011355	Localized skin lesion	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011355	HP:0011355	Localized skin lesion	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0011355	HP:0011355	Localized skin lesion	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0011355	HP:0011355	Localized skin lesion	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011355	HP:0011355	Localized skin lesion	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease			15
HP:0011355	HP:0011355	Localized skin lesion	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0011355	HP:0011355	Localized skin lesion	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease			29
HP:0011355	HP:0011355	Localized skin lesion	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0011355	HP:0011355	Localized skin lesion	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0011355	HP:0011355	Localized skin lesion	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0011355	HP:0011355	Localized skin lesion	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0011355	HP:0011355	Localized skin lesion	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011355	HP:0011355	Localized skin lesion	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011355	HP:0011355	Localized skin lesion	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0011355	HP:0011355	Localized skin lesion	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0011355	HP:0011355	Localized skin lesion	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011355	HP:0011355	Localized skin lesion	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0011355	HP:0011355	Localized skin lesion	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0011355	HP:0011355	Localized skin lesion	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011355	HP:0011355	Localized skin lesion	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0011355	HP:0011355	Localized skin lesion	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0011355	HP:0011355	Localized skin lesion	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0011355	HP:0011355	Localized skin lesion	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011355	HP:0011355	Localized skin lesion	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0011355	HP:0011355	Localized skin lesion	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0011355	HP:0011355	Localized skin lesion	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0011355	HP:0011355	Localized skin lesion	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0011355	HP:0011355	Localized skin lesion	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0011355	HP:0011355	Localized skin lesion	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0011355	HP:0011355	Localized skin lesion	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0011355	HP:0011355	Localized skin lesion	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0011355	HP:0011355	Localized skin lesion	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0011355	HP:0011355	Localized skin lesion	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0011355	HP:0011355	Localized skin lesion	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0011355	HP:0011355	Localized skin lesion	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0011355	HP:0011355	Localized skin lesion	0	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to			2
HP:0011355	HP:0011355	Localized skin lesion	0	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0011355	HP:0011355	Localized skin lesion	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0011355	HP:0011355	Localized skin lesion	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0011355	HP:0011355	Localized skin lesion	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0011355	HP:0011355	Localized skin lesion	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0011355	HP:0011355	Localized skin lesion	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0011355	HP:0011355	Localized skin lesion	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0011355	HP:0011355	Localized skin lesion	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0011355	HP:0011355	Localized skin lesion	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis			4
HP:0011355	HP:0011355	Localized skin lesion	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0011355	HP:0011355	Localized skin lesion	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus			99
HP:0011355	HP:0011355	Localized skin lesion	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0011355	HP:0011355	Localized skin lesion	0	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome			99
HP:0011355	HP:0011355	Localized skin lesion	0	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1			99
HP:0011355	HP:0011355	Localized skin lesion	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011355	HP:0011355	Localized skin lesion	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0011355	HP:0011355	Localized skin lesion	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0011355	HP:0011355	Localized skin lesion	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I			114
HP:0011355	HP:0011355	Localized skin lesion	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita			124
HP:0011355	HP:0011355	Localized skin lesion	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011355	HP:0011355	Localized skin lesion	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0011355	HP:0011355	Localized skin lesion	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011355	HP:0011355	Localized skin lesion	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0011355	HP:0011355	Localized skin lesion	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011355	HP:0011355	Localized skin lesion	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0011355	HP:0011355	Localized skin lesion	0	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0011355	HP:0011355	Localized skin lesion	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011355	HP:0011355	Localized skin lesion	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011355	HP:0011355	Localized skin lesion	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011355	HP:0011355	Localized skin lesion	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0011355	HP:0011355	Localized skin lesion	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0011355	HP:0011355	Localized skin lesion	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011355	HP:0011355	Localized skin lesion	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0011355	HP:0011355	Localized skin lesion	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0011355	HP:0011355	Localized skin lesion	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0011355	HP:0011355	Localized skin lesion	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			1
HP:0011355	HP:0011355	Localized skin lesion	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011355	HP:0011355	Localized skin lesion	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0011355	HP:0011355	Localized skin lesion	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011355	HP:0011355	Localized skin lesion	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011355	HP:0011355	Localized skin lesion	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0011355	HP:0011355	Localized skin lesion	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0011355	HP:0011355	Localized skin lesion	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0011355	HP:0011355	Localized skin lesion	0	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia			4
HP:0011355	HP:0011355	Localized skin lesion	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0011355	HP:0011355	Localized skin lesion	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0011355	HP:0011355	Localized skin lesion	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0011355	HP:0011355	Localized skin lesion	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0011355	HP:0011355	Localized skin lesion	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0011355	HP:0011355	Localized skin lesion	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0011355	HP:0011355	Localized skin lesion	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA			202
HP:0011355	HP:0011355	Localized skin lesion	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0011355	HP:0011355	Localized skin lesion	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0011355	HP:0011355	Localized skin lesion	0	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous			327
HP:0011355	HP:0011355	Localized skin lesion	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0011355	HP:0011355	Localized skin lesion	0	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011355	HP:0011355	Localized skin lesion	0	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive			9
HP:0011355	HP:0011355	Localized skin lesion	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2			9
HP:0011355	HP:0011355	Localized skin lesion	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0011355	HP:0011355	Localized skin lesion	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011355	HP:0011355	Localized skin lesion	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0011355	HP:0011355	Localized skin lesion	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0011355	HP:0011355	Localized skin lesion	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011355	HP:0011355	Localized skin lesion	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011355	HP:0011355	Localized skin lesion	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0011355	HP:0011355	Localized skin lesion	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011355	HP:0011355	Localized skin lesion	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011355	HP:0011355	Localized skin lesion	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0011355	HP:0011355	Localized skin lesion	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011355	HP:0011355	Localized skin lesion	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011355	HP:0011355	Localized skin lesion	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0011355	HP:0011355	Localized skin lesion	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0011355	HP:0011355	Localized skin lesion	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0011355	HP:0011355	Localized skin lesion	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			100
HP:0011355	HP:0011355	Localized skin lesion	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis			45
HP:0011355	HP:0011355	Localized skin lesion	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			110
HP:0011355	HP:0011355	Localized skin lesion	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011355	HP:0011355	Localized skin lesion	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011355	HP:0011355	Localized skin lesion	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			110
HP:0011355	HP:0011355	Localized skin lesion	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0011355	HP:0011355	Localized skin lesion	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0011355	HP:0011355	Localized skin lesion	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011355	HP:0011355	Localized skin lesion	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita			27
HP:0011355	HP:0011355	Localized skin lesion	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita			23
HP:0011355	HP:0011355	Localized skin lesion	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011355	HP:0011355	Localized skin lesion	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis			67
HP:0011355	HP:0011355	Localized skin lesion	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			173
HP:0011355	HP:0011355	Localized skin lesion	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011355	HP:0011355	Localized skin lesion	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease			173
HP:0011355	HP:0011355	Localized skin lesion	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema			173
HP:0011355	HP:0011355	Localized skin lesion	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011355	HP:0011355	Localized skin lesion	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011355	HP:0011355	Localized skin lesion	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0011355	HP:0011355	Localized skin lesion	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0011355	HP:0011355	Localized skin lesion	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita			41
HP:0011355	HP:0011355	Localized skin lesion	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita			4
HP:0011355	HP:0011355	Localized skin lesion	0	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia			65
HP:0011355	HP:0011355	Localized skin lesion	0	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0011355	HP:0011355	Localized skin lesion	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011355	HP:0011355	Localized skin lesion	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome			116
HP:0011355	HP:0011355	Localized skin lesion	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0011355	HP:0011355	Localized skin lesion	0	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0011355	HP:0011355	Localized skin lesion	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011355	HP:0011355	Localized skin lesion	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0011355	HP:0011355	Localized skin lesion	0	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0011355	HP:0011355	Localized skin lesion	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011355	HP:0011355	Localized skin lesion	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0011355	HP:0011355	Localized skin lesion	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0011355	HP:0011355	Localized skin lesion	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0011355	HP:0011355	Localized skin lesion	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0011355	HP:0011355	Localized skin lesion	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0011355	HP:0011355	Localized skin lesion	0	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1			2157
HP:0011355	HP:0011355	Localized skin lesion	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0011355	HP:0011355	Localized skin lesion	0	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive			73
HP:0011355	HP:0011355	Localized skin lesion	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011355	HP:0011355	Localized skin lesion	0	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome			68
HP:0011355	HP:0011355	Localized skin lesion	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0011355	HP:0011355	Localized skin lesion	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0011355	HP:0011355	Localized skin lesion	0	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0011355	HP:0011355	Localized skin lesion	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0011355	HP:0011355	Localized skin lesion	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0011355	HP:0011355	Localized skin lesion	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011355	HP:0011355	Localized skin lesion	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY			35
HP:0011355	HP:0011355	Localized skin lesion	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency			35
HP:0011355	HP:0011355	Localized skin lesion	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7			12
HP:0011355	HP:0011355	Localized skin lesion	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0011355	HP:0011355	Localized skin lesion	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0011355	HP:0011355	Localized skin lesion	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0011355	HP:0011355	Localized skin lesion	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0011355	HP:0011355	Localized skin lesion	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0011355	HP:0011355	Localized skin lesion	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011355	HP:0011355	Localized skin lesion	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0011355	HP:0011355	Localized skin lesion	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0011355	HP:0011355	Localized skin lesion	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0011355	HP:0011355	Localized skin lesion	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011355	HP:0011355	Localized skin lesion	0	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia
HP:0011355	HP:0011355	Localized skin lesion	0	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8			8
HP:0011355	HP:0011355	Localized skin lesion	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0011355	HP:0011355	Localized skin lesion	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3			106
HP:0011355	HP:0011355	Localized skin lesion	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0011355	HP:0011355	Localized skin lesion	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0011355	HP:0011355	Localized skin lesion	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011355	HP:0011355	Localized skin lesion	0	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011355	HP:0011355	Localized skin lesion	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0011355	HP:0011355	Localized skin lesion	0	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma			123
HP:0011355	HP:0011355	Localized skin lesion	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome			239
HP:0011355	HP:0011355	Localized skin lesion	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011355	HP:0011355	Localized skin lesion	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011355	HP:0011355	Localized skin lesion	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011355	HP:0011355	Localized skin lesion	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0011355	HP:0011355	Localized skin lesion	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011355	HP:0011355	Localized skin lesion	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0011355	HP:0011355	Localized skin lesion	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011355	HP:0011355	Localized skin lesion	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011355	HP:0011355	Localized skin lesion	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia
HP:0011355	HP:0011355	Localized skin lesion	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011355	HP:0011355	Localized skin lesion	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011355	HP:0011355	Localized skin lesion	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011355	HP:0011355	Localized skin lesion	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011355	HP:0011355	Localized skin lesion	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0011355	HP:0011355	Localized skin lesion	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0011355	HP:0011355	Localized skin lesion	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011355	HP:0011355	Localized skin lesion	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011355	HP:0011355	Localized skin lesion	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0011355	HP:0011355	Localized skin lesion	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA			84
HP:0011355	HP:0011355	Localized skin lesion	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0011355	HP:0011355	Localized skin lesion	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011355	HP:0011355	Localized skin lesion	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0011355	HP:0011355	Localized skin lesion	0	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma			124
HP:0011355	HP:0011355	Localized skin lesion	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011355	HP:0011355	Localized skin lesion	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011355	HP:0011355	Localized skin lesion	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011355	HP:0011355	Localized skin lesion	0	MDM2 CL E G H	4193	6973	ORPHA:99971	Well-differentiated liposarcoma			1
HP:0011355	HP:0011355	Localized skin lesion	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011355	HP:0011355	Localized skin lesion	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0011355	HP:0011355	Localized skin lesion	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011355	HP:0011355	Localized skin lesion	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011355	HP:0011355	Localized skin lesion	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011355	HP:0011355	Localized skin lesion	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011355	HP:0011355	Localized skin lesion	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011355	HP:0011355	Localized skin lesion	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0011355	HP:0011355	Localized skin lesion	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0011355	HP:0011355	Localized skin lesion	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0011355	HP:0011355	Localized skin lesion	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011355	HP:0011355	Localized skin lesion	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011355	HP:0011355	Localized skin lesion	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0011355	HP:0011355	Localized skin lesion	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma			3
HP:0011355	HP:0011355	Localized skin lesion	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0011355	HP:0011355	Localized skin lesion	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011355	HP:0011355	Localized skin lesion	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0011355	HP:0011355	Localized skin lesion	0	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma			91
HP:0011355	HP:0011355	Localized skin lesion	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2			91
HP:0011355	HP:0011355	Localized skin lesion	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011355	HP:0011355	Localized skin lesion	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0011355	HP:0011355	Localized skin lesion	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011355	HP:0011355	Localized skin lesion	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0011355	HP:0011355	Localized skin lesion	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent		2
HP:0011355	HP:0011355	Localized skin lesion	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0011355	HP:0011355	Localized skin lesion	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent		64
HP:0011355	HP:0011355	Localized skin lesion	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0011355	HP:0011355	Localized skin lesion	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0011355	HP:0011355	Localized skin lesion	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0011355	HP:0011355	Localized skin lesion	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011355	HP:0011355	Localized skin lesion	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011355	HP:0011355	Localized skin lesion	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011355	HP:0011355	Localized skin lesion	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus			12
HP:0011355	HP:0011355	Localized skin lesion	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina			45
HP:0011355	HP:0011355	Localized skin lesion	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina			45
HP:0011355	HP:0011355	Localized skin lesion	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0011355	HP:0011355	Localized skin lesion	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0011355	HP:0011355	Localized skin lesion	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0011355	HP:0011355	Localized skin lesion	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0011355	HP:0011355	Localized skin lesion	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0011355	HP:0011355	Localized skin lesion	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0011355	HP:0011355	Localized skin lesion	0	MVK CL E G H	4598	7530	ORPHA:735	Porokeratosis of Mibelli			150
HP:0011355	HP:0011355	Localized skin lesion	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0011355	HP:0011355	Localized skin lesion	0	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma			47
HP:0011355	HP:0011355	Localized skin lesion	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0011355	HP:0011355	Localized skin lesion	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011355	HP:0011355	Localized skin lesion	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0011355	HP:0011355	Localized skin lesion	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0011355	HP:0011355	Localized skin lesion	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0011355	HP:0011355	Localized skin lesion	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0011355	HP:0011355	Localized skin lesion	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011355	HP:0011355	Localized skin lesion	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0011355	HP:0011355	Localized skin lesion	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011355	HP:0011355	Localized skin lesion	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0011355	HP:0011355	Localized skin lesion	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0011355	HP:0011355	Localized skin lesion	0	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial			5
HP:0011355	HP:0011355	Localized skin lesion	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0011355	HP:0011355	Localized skin lesion	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0011355	HP:0011355	Localized skin lesion	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus			4
HP:0011355	HP:0011355	Localized skin lesion	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia			30
HP:0011355	HP:0011355	Localized skin lesion	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0011355	HP:0011355	Localized skin lesion	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome			9
HP:0011355	HP:0011355	Localized skin lesion	0	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC			9
HP:0011355	HP:0011355	Localized skin lesion	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011355	HP:0011355	Localized skin lesion	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011355	HP:0011355	Localized skin lesion	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011355	HP:0011355	Localized skin lesion	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011355	HP:0011355	Localized skin lesion	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0011355	HP:0011355	Localized skin lesion	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011355	HP:0011355	Localized skin lesion	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011355	HP:0011355	Localized skin lesion	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011355	HP:0011355	Localized skin lesion	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0011355	HP:0011355	Localized skin lesion	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011355	HP:0011355	Localized skin lesion	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0011355	HP:0011355	Localized skin lesion	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0011355	HP:0011355	Localized skin lesion	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0011355	HP:0011355	Localized skin lesion	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0011355	HP:0011355	Localized skin lesion	0	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0011355	HP:0011355	Localized skin lesion	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0011355	HP:0011355	Localized skin lesion	0	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP			37
HP:0011355	HP:0011355	Localized skin lesion	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0011355	HP:0011355	Localized skin lesion	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0011355	HP:0011355	Localized skin lesion	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0011355	HP:0011355	Localized skin lesion	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011355	HP:0011355	Localized skin lesion	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0011355	HP:0011355	Localized skin lesion	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0011355	HP:0011355	Localized skin lesion	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011355	HP:0011355	Localized skin lesion	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0011355	HP:0011355	Localized skin lesion	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0011355	HP:0011355	Localized skin lesion	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0011355	HP:0011355	Localized skin lesion	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0011355	HP:0011355	Localized skin lesion	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0011355	HP:0011355	Localized skin lesion	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011355	HP:0011355	Localized skin lesion	0	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic			102
HP:0011355	HP:0011355	Localized skin lesion	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011355	HP:0011355	Localized skin lesion	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011355	HP:0011355	Localized skin lesion	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital			102
HP:0011355	HP:0011355	Localized skin lesion	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic			102
HP:0011355	HP:0011355	Localized skin lesion	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011355	HP:0011355	Localized skin lesion	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011355	HP:0011355	Localized skin lesion	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0011355	HP:0011355	Localized skin lesion	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0011355	HP:0011355	Localized skin lesion	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011355	HP:0011355	Localized skin lesion	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0011355	Localized skin lesion	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0011355	Localized skin lesion	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011355	HP:0011355	Localized skin lesion	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0011355	HP:0011355	Localized skin lesion	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011355	HP:0011355	Localized skin lesion	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0011355	HP:0011355	Localized skin lesion	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011355	HP:0011355	Localized skin lesion	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011355	HP:0011355	Localized skin lesion	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0011355	HP:0011355	Localized skin lesion	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011355	HP:0011355	Localized skin lesion	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0011355	HP:0011355	Localized skin lesion	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0011355	HP:0011355	Localized skin lesion	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0011355	HP:0011355	Localized skin lesion	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011355	HP:0011355	Localized skin lesion	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0011355	HP:0011355	Localized skin lesion	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011355	HP:0011355	Localized skin lesion	0	OTULIN CL E G H	90268	25118	OMIM:619986				3
HP:0011355	HP:0011355	Localized skin lesion	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0011355	HP:0011355	Localized skin lesion	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome			231
HP:0011355	HP:0011355	Localized skin lesion	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0011355	HP:0011355	Localized skin lesion	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011355	HP:0011355	Localized skin lesion	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0011355	HP:0011355	Localized skin lesion	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011355	HP:0011355	Localized skin lesion	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0011355	HP:0011355	Localized skin lesion	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0011355	HP:0011355	Localized skin lesion	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0011355	HP:0011355	Localized skin lesion	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3			59
HP:0011355	HP:0011355	Localized skin lesion	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0011355	HP:0011355	Localized skin lesion	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011355	HP:0011355	Localized skin lesion	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011355	HP:0011355	Localized skin lesion	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0011355	HP:0011355	Localized skin lesion	0	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3			178
HP:0011355	HP:0011355	Localized skin lesion	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011355	HP:0011355	Localized skin lesion	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0011355	HP:0011355	Localized skin lesion	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011355	HP:0011355	Localized skin lesion	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0011355	HP:0011355	Localized skin lesion	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0011355	HP:0011355	Localized skin lesion	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0011355	HP:0011355	Localized skin lesion	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0011355	HP:0011355	Localized skin lesion	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011355	HP:0011355	Localized skin lesion	0	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans			9
HP:0011355	HP:0011355	Localized skin lesion	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0011355	HP:0011355	Localized skin lesion	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0011355	HP:0011355	Localized skin lesion	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011355	HP:0011355	Localized skin lesion	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0011355	HP:0011355	Localized skin lesion	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0011355	HP:0011355	Localized skin lesion	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0011355	HP:0011355	Localized skin lesion	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011355	HP:0011355	Localized skin lesion	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011355	HP:0011355	Localized skin lesion	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011355	HP:0011355	Localized skin lesion	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0011355	HP:0011355	Localized skin lesion	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011355	HP:0011355	Localized skin lesion	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011355	HP:0011355	Localized skin lesion	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0011355	HP:0011355	Localized skin lesion	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011355	HP:0011355	Localized skin lesion	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5			162
HP:0011355	HP:0011355	Localized skin lesion	0	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic			162
HP:0011355	HP:0011355	Localized skin lesion	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome			162
HP:0011355	HP:0011355	Localized skin lesion	0	PIK3CA CL E G H	5290	8975	OMIM:182000	KERATOSIS, SEBORRHEIC			162
HP:0011355	HP:0011355	Localized skin lesion	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0011355	HP:0011355	Localized skin lesion	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0011355	HP:0011355	Localized skin lesion	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011355	HP:0011355	Localized skin lesion	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0011355	HP:0011355	Localized skin lesion	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita			759
HP:0011355	HP:0011355	Localized skin lesion	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011355	HP:0011355	Localized skin lesion	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011355	HP:0011355	Localized skin lesion	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011355	HP:0011355	Localized skin lesion	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011355	HP:0011355	Localized skin lesion	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0011355	HP:0011355	Localized skin lesion	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement			759
HP:0011355	HP:0011355	Localized skin lesion	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0011355	HP:0011355	Localized skin lesion	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0011355	HP:0011355	Localized skin lesion	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0011355	HP:0011355	Localized skin lesion	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011355	HP:0011355	Localized skin lesion	0	PMVK CL E G H	10654	9141	ORPHA:735	Porokeratosis of Mibelli			3
HP:0011355	HP:0011355	Localized skin lesion	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0011355	Localized skin lesion	0	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2			2
HP:0011355	HP:0011355	Localized skin lesion	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease			6
HP:0011355	HP:0011355	Localized skin lesion	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0011355	HP:0011355	Localized skin lesion	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant			155
HP:0011355	HP:0011355	Localized skin lesion	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type			155
HP:0011355	HP:0011355	Localized skin lesion	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011355	HP:0011355	Localized skin lesion	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0011355	HP:0011355	Localized skin lesion	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011355	HP:0011355	Localized skin lesion	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011355	HP:0011355	Localized skin lesion	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011355	HP:0011355	Localized skin lesion	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0011355	HP:0011355	Localized skin lesion	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0011355	HP:0011355	Localized skin lesion	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0011355	HP:0011355	Localized skin lesion	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011355	HP:0011355	Localized skin lesion	0	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma			23
HP:0011355	HP:0011355	Localized skin lesion	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0011355	HP:0011355	Localized skin lesion	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional		41
HP:0011355	HP:0011355	Localized skin lesion	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011355	HP:0011355	Localized skin lesion	0	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1			2
HP:0011355	HP:0011355	Localized skin lesion	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0011355	HP:0011355	Localized skin lesion	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011355	HP:0011355	Localized skin lesion	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011355	HP:0011355	Localized skin lesion	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0011355	HP:0011355	Localized skin lesion	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0011355	HP:0011355	Localized skin lesion	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0011355	HP:0011355	Localized skin lesion	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011355	HP:0011355	Localized skin lesion	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0011355	HP:0011355	Localized skin lesion	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0011355	HP:0011355	Localized skin lesion	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011355	HP:0011355	Localized skin lesion	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011355	HP:0011355	Localized skin lesion	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011355	HP:0011355	Localized skin lesion	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency			65
HP:0011355	HP:0011355	Localized skin lesion	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0011355	HP:0011355	Localized skin lesion	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency			75
HP:0011355	HP:0011355	Localized skin lesion	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0011355	HP:0011355	Localized skin lesion	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0011355	HP:0011355	Localized skin lesion	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0011355	HP:0011355	Localized skin lesion	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0011355	HP:0011355	Localized skin lesion	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0011355	HP:0011355	Localized skin lesion	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0011355	HP:0011355	Localized skin lesion	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011355	HP:0011355	Localized skin lesion	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0011355	HP:0011355	Localized skin lesion	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0011355	HP:0011355	Localized skin lesion	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0011355	Localized skin lesion	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011355	HP:0011355	Localized skin lesion	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0011355	HP:0011355	Localized skin lesion	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome			96
HP:0011355	HP:0011355	Localized skin lesion	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0011355	HP:0011355	Localized skin lesion	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011355	HP:0011355	Localized skin lesion	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0011355	HP:0011355	Localized skin lesion	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011355	HP:0011355	Localized skin lesion	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011355	HP:0011355	Localized skin lesion	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0011355	HP:0011355	Localized skin lesion	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0011355	HP:0011355	Localized skin lesion	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0011355	HP:0011355	Localized skin lesion	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0011355	HP:0011355	Localized skin lesion	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011355	HP:0011355	Localized skin lesion	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011355	HP:0011355	Localized skin lesion	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011355	HP:0011355	Localized skin lesion	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011355	HP:0011355	Localized skin lesion	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0011355	HP:0011355	Localized skin lesion	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome			948
HP:0011355	HP:0011355	Localized skin lesion	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease			58
HP:0011355	HP:0011355	Localized skin lesion	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0011355	HP:0011355	Localized skin lesion	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011355	HP:0011355	Localized skin lesion	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011355	HP:0011355	Localized skin lesion	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011355	HP:0011355	Localized skin lesion	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0011355	HP:0011355	Localized skin lesion	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0011355	HP:0011355	Localized skin lesion	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0011355	HP:0011355	Localized skin lesion	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011355	HP:0011355	Localized skin lesion	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011355	HP:0011355	Localized skin lesion	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0011355	HP:0011355	Localized skin lesion	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0011355	HP:0011355	Localized skin lesion	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011355	HP:0011355	Localized skin lesion	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0011355	HP:0011355	Localized skin lesion	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0011355	HP:0011355	Localized skin lesion	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0011355	HP:0011355	Localized skin lesion	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011355	HP:0011355	Localized skin lesion	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011355	HP:0011355	Localized skin lesion	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011355	HP:0011355	Localized skin lesion	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0011355	HP:0011355	Localized skin lesion	0	RASA1 CL E G H	5921	9871	OMIM:608354	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1			88
HP:0011355	HP:0011355	Localized skin lesion	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0011355	HP:0011355	Localized skin lesion	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011355	HP:0011355	Localized skin lesion	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0011355	HP:0011355	Localized skin lesion	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0011355	HP:0011355	Localized skin lesion	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011355	HP:0011355	Localized skin lesion	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0011355	HP:0011355	Localized skin lesion	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0011355	HP:0011355	Localized skin lesion	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0011355	HP:0011355	Localized skin lesion	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011355	HP:0011355	Localized skin lesion	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0011355	HP:0011355	Localized skin lesion	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011355	HP:0011355	Localized skin lesion	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011355	HP:0011355	Localized skin lesion	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0011355	HP:0011355	Localized skin lesion	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011355	HP:0011355	Localized skin lesion	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011355	HP:0011355	Localized skin lesion	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA			572
HP:0011355	HP:0011355	Localized skin lesion	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0011355	HP:0011355	Localized skin lesion	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0011355	HP:0011355	Localized skin lesion	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0011355	HP:0011355	Localized skin lesion	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011355	HP:0011355	Localized skin lesion	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0011355	HP:0011355	Localized skin lesion	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0011355	HP:0011355	Localized skin lesion	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011355	HP:0011355	Localized skin lesion	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome			69
HP:0011355	HP:0011355	Localized skin lesion	0	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS			69
HP:0011355	HP:0011355	Localized skin lesion	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011355	HP:0011355	Localized skin lesion	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011355	HP:0011355	Localized skin lesion	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0011355	HP:0011355	Localized skin lesion	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0011355	HP:0011355	Localized skin lesion	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0011355	HP:0011355	Localized skin lesion	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011355	HP:0011355	Localized skin lesion	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011355	HP:0011355	Localized skin lesion	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0011355	HP:0011355	Localized skin lesion	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0011355	HP:0011355	Localized skin lesion	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0011355	HP:0011355	Localized skin lesion	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0011355	HP:0011355	Localized skin lesion	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0011355	HP:0011355	Localized skin lesion	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0011355	HP:0011355	Localized skin lesion	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0011355	HP:0011355	Localized skin lesion	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0011355	HP:0011355	Localized skin lesion	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011355	HP:0011355	Localized skin lesion	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0011355	HP:0011355	Localized skin lesion	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0011355	HP:0011355	Localized skin lesion	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0011355	HP:0011355	Localized skin lesion	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011355	HP:0011355	Localized skin lesion	0	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria			1
HP:0011355	HP:0011355	Localized skin lesion	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011355	HP:0011355	Localized skin lesion	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0011355	HP:0011355	Localized skin lesion	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0011355	HP:0011355	Localized skin lesion	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0011355	HP:0011355	Localized skin lesion	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0011355	HP:0011355	Localized skin lesion	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0011355	HP:0011355	Localized skin lesion	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011355	HP:0011355	Localized skin lesion	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA			237
HP:0011355	HP:0011355	Localized skin lesion	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011355	HP:0011355	Localized skin lesion	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0011355	HP:0011355	Localized skin lesion	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011355	HP:0011355	Localized skin lesion	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA			129
HP:0011355	HP:0011355	Localized skin lesion	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011355	HP:0011355	Localized skin lesion	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011355	HP:0011355	Localized skin lesion	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0011355	HP:0011355	Localized skin lesion	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0011355	HP:0011355	Localized skin lesion	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011355	HP:0011355	Localized skin lesion	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0011355	HP:0011355	Localized skin lesion	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011355	HP:0011355	Localized skin lesion	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011355	HP:0011355	Localized skin lesion	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0011355	HP:0011355	Localized skin lesion	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011355	HP:0011355	Localized skin lesion	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011355	HP:0011355	Localized skin lesion	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011355	HP:0011355	Localized skin lesion	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011355	HP:0011355	Localized skin lesion	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011355	HP:0011355	Localized skin lesion	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0011355	HP:0011355	Localized skin lesion	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0011355	HP:0011355	Localized skin lesion	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0011355	HP:0011355	Localized skin lesion	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0011355	HP:0011355	Localized skin lesion	0	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0011355	HP:0011355	Localized skin lesion	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0011355	HP:0011355	Localized skin lesion	0	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2			10
HP:0011355	HP:0011355	Localized skin lesion	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011355	HP:0011355	Localized skin lesion	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011355	HP:0011355	Localized skin lesion	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011355	HP:0011355	Localized skin lesion	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011355	HP:0011355	Localized skin lesion	0	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type			3
HP:0011355	HP:0011355	Localized skin lesion	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011355	HP:0011355	Localized skin lesion	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0011355	HP:0011355	Localized skin lesion	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0011355	HP:0011355	Localized skin lesion	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0011355	HP:0011355	Localized skin lesion	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0011355	HP:0011355	Localized skin lesion	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0011355	HP:0011355	Localized skin lesion	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0011355	HP:0011355	Localized skin lesion	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0011355	HP:0011355	Localized skin lesion	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0011355	HP:0011355	Localized skin lesion	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0011355	HP:0011355	Localized skin lesion	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0011355	HP:0011355	Localized skin lesion	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0011355	HP:0011355	Localized skin lesion	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0011355	HP:0011355	Localized skin lesion	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0011355	HP:0011355	Localized skin lesion	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0011355	HP:0011355	Localized skin lesion	0	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda			15
HP:0011355	HP:0011355	Localized skin lesion	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0011355	HP:0011355	Localized skin lesion	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0011355	HP:0011355	Localized skin lesion	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0011355	HP:0011355	Localized skin lesion	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0011355	HP:0011355	Localized skin lesion	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0011355	HP:0011355	Localized skin lesion	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011355	HP:0011355	Localized skin lesion	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0011355	HP:0011355	Localized skin lesion	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0011355	HP:0011355	Localized skin lesion	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011355	HP:0011355	Localized skin lesion	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011355	HP:0011355	Localized skin lesion	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011355	HP:0011355	Localized skin lesion	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome			22
HP:0011355	HP:0011355	Localized skin lesion	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0011355	HP:0011355	Localized skin lesion	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0011355	HP:0011355	Localized skin lesion	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2			19
HP:0011355	HP:0011355	Localized skin lesion	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0011355	HP:0011355	Localized skin lesion	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011355	HP:0011355	Localized skin lesion	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011355	HP:0011355	Localized skin lesion	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011355	HP:0011355	Localized skin lesion	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0011355	HP:0011355	Localized skin lesion	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0011355	HP:0011355	Localized skin lesion	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2			61
HP:0011355	HP:0011355	Localized skin lesion	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011355	HP:0011355	Localized skin lesion	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C			61
HP:0011355	HP:0011355	Localized skin lesion	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0011355	HP:0011355	Localized skin lesion	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011355	HP:0011355	Localized skin lesion	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0011355	HP:0011355	Localized skin lesion	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011355	HP:0011355	Localized skin lesion	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011355	HP:0011355	Localized skin lesion	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011355	HP:0011355	Localized skin lesion	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011355	HP:0011355	Localized skin lesion	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0011355	Localized skin lesion	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011355	HP:0011355	Localized skin lesion	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0011355	HP:0011355	Localized skin lesion	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0011355	HP:0011355	Localized skin lesion	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011355	HP:0011355	Localized skin lesion	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0011355	HP:0011355	Localized skin lesion	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0011355	HP:0011355	Localized skin lesion	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0011355	HP:0011355	Localized skin lesion	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0011355	HP:0011355	Localized skin lesion	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0011355	HP:0011355	Localized skin lesion	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0011355	HP:0011355	Localized skin lesion	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011355	HP:0011355	Localized skin lesion	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0011355	HP:0011355	Localized skin lesion	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0011355	HP:0011355	Localized skin lesion	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0011355	HP:0011355	Localized skin lesion	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0011355	HP:0011355	Localized skin lesion	0	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant			740
HP:0011355	HP:0011355	Localized skin lesion	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0011355	HP:0011355	Localized skin lesion	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0011355	HP:0011355	Localized skin lesion	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011355	HP:0011355	Localized skin lesion	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0011355	HP:0011355	Localized skin lesion	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0011355	HP:0011355	Localized skin lesion	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0011355	HP:0011355	Localized skin lesion	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011355	HP:0011355	Localized skin lesion	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0011355	HP:0011355	Localized skin lesion	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011355	HP:0011355	Localized skin lesion	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I			5
HP:0011355	HP:0011355	Localized skin lesion	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I			17
HP:0011355	HP:0011355	Localized skin lesion	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I			3
HP:0011355	HP:0011355	Localized skin lesion	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011355	HP:0011355	Localized skin lesion	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011355	HP:0011355	Localized skin lesion	0	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0011355	HP:0011355	Localized skin lesion	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0011355	HP:0011355	Localized skin lesion	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011355	HP:0011355	Localized skin lesion	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0011355	HP:0011355	Localized skin lesion	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011355	HP:0011355	Localized skin lesion	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0011355	HP:0011355	Localized skin lesion	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0011355	HP:0011355	Localized skin lesion	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0011355	HP:0011355	Localized skin lesion	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011355	HP:0011355	Localized skin lesion	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011355	HP:0011355	Localized skin lesion	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus			78
HP:0011355	HP:0011355	Localized skin lesion	0	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma			78
HP:0011355	HP:0011355	Localized skin lesion	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0011355	HP:0011355	Localized skin lesion	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0011355	HP:0011355	Localized skin lesion	0	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma
HP:0011355	HP:0011355	Localized skin lesion	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0011355	HP:0011355	Localized skin lesion	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0011355	HP:0011355	Localized skin lesion	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0011355	HP:0011355	Localized skin lesion	0	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma			238
HP:0011355	HP:0011355	Localized skin lesion	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011355	HP:0011355	Localized skin lesion	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011355	HP:0011355	Localized skin lesion	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011355	HP:0011355	Localized skin lesion	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0011355	HP:0011355	Localized skin lesion	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0011355	HP:0011355	Localized skin lesion	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0011355	HP:0011355	Localized skin lesion	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0011355	HP:0011355	Localized skin lesion	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0011355	HP:0011355	Localized skin lesion	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome			44
HP:0011355	HP:0011355	Localized skin lesion	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0011355	HP:0011355	Localized skin lesion	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0011355	HP:0011355	Localized skin lesion	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0011355	HP:0011355	Localized skin lesion	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011355	HP:0011355	Localized skin lesion	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0011355	HP:0011355	Localized skin lesion	0	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis			10
HP:0011355	HP:0011355	Localized skin lesion	0	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis			4
HP:0011355	HP:0011355	Localized skin lesion	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA			131
HP:0011355	HP:0011355	Localized skin lesion	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia			5
HP:0011355	HP:0011355	Localized skin lesion	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0011355	HP:0011355	Localized skin lesion	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0011355	HP:0011355	Localized skin lesion	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0011355	HP:0011355	Localized skin lesion	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0011355	HP:0011355	Localized skin lesion	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0011355	HP:0011355	Localized skin lesion	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1			134
HP:0011355	HP:0011355	Localized skin lesion	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0011355	HP:0011355	Localized skin lesion	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0011355	HP:0011355	Localized skin lesion	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0011355	HP:0011355	Localized skin lesion	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011355	HP:0011355	Localized skin lesion	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011355	HP:0011355	Localized skin lesion	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011355	HP:0011355	Localized skin lesion	0	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome			140
HP:0011355	HP:0011355	Localized skin lesion	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus			140
HP:0011355	HP:0011355	Localized skin lesion	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0011355	HP:0011355	Localized skin lesion	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011355	HP:0011355	Localized skin lesion	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011355	HP:0011355	Localized skin lesion	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0011355	HP:0011355	Localized skin lesion	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0011355	HP:0011355	Localized skin lesion	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1			56
HP:0011355	HP:0011355	Localized skin lesion	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011355	HP:0011355	Localized skin lesion	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011355	HP:0011355	Localized skin lesion	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0011355	HP:0011355	Localized skin lesion	0	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6			124
HP:0011355	HP:0011355	Localized skin lesion	0	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia			124
HP:0011355	HP:0011355	Localized skin lesion	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0011355	HP:0011355	Localized skin lesion	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011355	HP:0011355	Localized skin lesion	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011355	HP:0011355	Localized skin lesion	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011355	HP:0011355	Localized skin lesion	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011355	HP:0011355	Localized skin lesion	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011355	HP:0011355	Localized skin lesion	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011355	HP:0011355	Localized skin lesion	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0011355	HP:0011355	Localized skin lesion	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011355	HP:0011355	Localized skin lesion	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0011355	HP:0011355	Localized skin lesion	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0011355	HP:0011355	Localized skin lesion	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome			7
HP:0011355	HP:0011355	Localized skin lesion	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011355	HP:0011355	Localized skin lesion	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0011355	HP:0011355	Localized skin lesion	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0011355	HP:0011355	Localized skin lesion	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0011355	HP:0011355	Localized skin lesion	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2			146
HP:0011355	HP:0011355	Localized skin lesion	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0011355	HP:0011355	Localized skin lesion	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0011355	HP:0011355	Localized skin lesion	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011355	HP:0011355	Localized skin lesion	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0011355	HP:0011355	Localized skin lesion	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0011355	HP:0011355	Localized skin lesion	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011355	HP:0011355	Localized skin lesion	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011355	HP:0011355	Localized skin lesion	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0011355	HP:0011355	Localized skin lesion	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011355	HP:0011355	Localized skin lesion	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011355	HP:0011355	Localized skin lesion	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011355	HP:0011355	Localized skin lesion	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011355	HP:0011355	Localized skin lesion	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011355	HP:0011355	Localized skin lesion	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0011355	HP:0011355	Localized skin lesion	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0011355	HP:0011355	Localized skin lesion	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011355	HP:0011355	Localized skin lesion	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0011355	Localized skin lesion	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0011355	HP:0011355	Localized skin lesion	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011355	HP:0011355	Localized skin lesion	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011355	HP:0011355	Localized skin lesion	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0011355	HP:0011355	Localized skin lesion	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011355	HP:0011355	Localized skin lesion	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0011355	HP:0011355	Localized skin lesion	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0011355	HP:0011355	Localized skin lesion	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0011355	HP:0011355	Localized skin lesion	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0011355	HP:0011355	Localized skin lesion	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA			490
HP:0011355	HP:0011355	Localized skin lesion	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011355	HP:0011355	Localized skin lesion	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0011355	HP:0011355	Localized skin lesion	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011355	HP:0011355	Localized skin lesion	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011355	HP:0011355	Localized skin lesion	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011355	HP:0011355	Localized skin lesion	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011355	HP:0011355	Localized skin lesion	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0011355	HP:0011355	Localized skin lesion	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011355	HP:0011355	Localized skin lesion	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0011355	HP:0011355	Localized skin lesion	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011355	HP:0011355	Localized skin lesion	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011355	HP:0011355	Localized skin lesion	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011355	HP:0011355	Localized skin lesion	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0011355	HP:0011355	Localized skin lesion	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0011355	HP:0011355	Localized skin lesion	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0011355	HP:0011355	Localized skin lesion	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0011355	HP:0011355	Localized skin lesion	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0011355	HP:0011355	Localized skin lesion	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C			86
HP:0011355	HP:0011355	Localized skin lesion	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0011355	HP:0011355	Localized skin lesion	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0011355	HP:0011355	Localized skin lesion	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0011355	HP:0011355	Localized skin lesion	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011355	HP:0011355	Localized skin lesion	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome			14
HP:0011355	HP:0011355	Localized skin lesion	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0011355	HP:0011355	Localized skin lesion	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0011355	HP:0011355	Localized skin lesion	0	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0011355	HP:0011355	Localized skin lesion	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0011355	HP:0011355	Localized skin lesion	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011355	HP:0011355	Localized skin lesion	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011355	HP:0011355	Localized skin lesion	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011355	HP:0011355	Localized skin lesion	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011355	HP:0011355	Localized skin lesion	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011355	HP:0011355	Localized skin lesion	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0011355	HP:0011355	Localized skin lesion	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011355	HP:0011355	Localized skin lesion	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0011355	HP:0011355	Localized skin lesion	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0011355	HP:0011355	Localized skin lesion	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011355	HP:0011355	Localized skin lesion	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0011355	HP:0011355	Localized skin lesion	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0011355	HP:0025527	Serpiginous cutaneous lesion	1	CL E G H
HP:0011355	HP:0031924	Rope sign	1	CL E G H
HP:0011355	HP:0032026	Anetoderma	1	CL E G H
HP:0011355	HP:0032099	Perioral radial furrowing	1	CL E G H
HP:0011355	HP:0033126	Cutaneous necrosis	1	CL E G H
HP:0011355	HP:0033510	Cutaneous horn	1	CL E G H
HP:0011355	HP:0034400	Circumferential skin creases on extremities	1	CL E G H
HP:0011355	HP:0200034	Papule	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1			7
HP:0011355	HP:0000991	Xanthomatosis	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent		191
HP:0011355	HP:0200036	Skin nodule	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency			191
HP:0011355	HP:0000987	Atypical scarring of skin	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent		20
HP:0011355	HP:0012733	Macule	1	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent		20
HP:0011355	HP:0012733	Macule	1	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3			20
HP:0011355	HP:0200036	Skin nodule	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0011355	HP:0200034	Papule	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0011355	HP:0200034	Papule	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0011355	HP:0012733	Macule	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0011355	HP:0000991	Xanthomatosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		67
HP:0011355	HP:0000991	Xanthomatosis	1	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2			67
HP:0011355	HP:0000991	Xanthomatosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		76
HP:0011355	HP:0000991	Xanthomatosis	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0011355	HP:0200036	Skin nodule	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0011355	HP:0003764	Nevus	1	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		11
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0011355	HP:0012733	Macule	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0011355	HP:0012733	Macule	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome			72
HP:0011355	HP:0200036	Skin nodule	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0011355	HP:0000987	Atypical scarring of skin	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011355	HP:0200035	Skin plaque	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011355	HP:0200042	Skin ulcer	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0011355	HP:0012733	Macule	1	ADAR CL E G H	103	225	ORPHA:41	Dyschromatosis symmetrica hereditaria	HP:0040281 - Very frequent		116
HP:0011355	HP:0012733	Macule	1	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1			116
HP:0011355	HP:0000987	Atypical scarring of skin	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011355	HP:0200034	Papule	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011355	HP:0010781	Skin dimple	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011355	HP:0000987	Atypical scarring of skin	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011355	HP:0010781	Skin dimple	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011355	HP:0000987	Atypical scarring of skin	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0011355	HP:0000987	Atypical scarring of skin	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0011355	HP:0000987	Atypical scarring of skin	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0011355	HP:0001053	Hypopigmented skin patches	1	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040283 - Occasional		92
HP:0011355	HP:0200042	Skin ulcer	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040283 - Occasional		19
HP:0011355	HP:0001053	Hypopigmented skin patches	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0011355	HP:0200034	Papule	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		54
HP:0011355	HP:0200036	Skin nodule	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011355	HP:0003764	Nevus	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011355	HP:0012733	Macule	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		54
HP:0011355	HP:0010609	Skin tags	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0011355	HP:0200036	Skin nodule	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011355	HP:0003764	Nevus	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011355	HP:0012733	Macule	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011355	HP:0003764	Nevus	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011355	HP:0010781	Skin dimple	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood			126
HP:0011355	HP:0010781	Skin dimple	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0011355	HP:0010609	Skin tags	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0011355	HP:0010609	Skin tags	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0011355	HP:0025245	Cutaneous cyst	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011355	HP:0010609	Skin tags	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny			9
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina			132
HP:0011355	HP:0003764	Nevus	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2			132
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011355	HP:0012733	Macule	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011355	HP:0100276	Skin pit	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0011355	HP:0010781	Skin dimple	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0011355	HP:0200042	Skin ulcer	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		150
HP:0011355	HP:0010609	Skin tags	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional		8
HP:0011355	HP:0025245	Cutaneous cyst	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0011355	HP:0010609	Skin tags	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent		8
HP:0011355	HP:0200036	Skin nodule	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0011355	HP:0200036	Skin nodule	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0011355	HP:0200042	Skin ulcer	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0011355	HP:0200034	Papule	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040281 - Very frequent		49
HP:0011355	HP:0200036	Skin nodule	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0011355	HP:0200042	Skin ulcer	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040282 - Frequent		49
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040282 - Frequent		49
HP:0011355	HP:0000987	Atypical scarring of skin	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011355	HP:0025245	Cutaneous cyst	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011355	HP:0025245	Cutaneous cyst	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0011355	HP:0200036	Skin nodule	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0011355	HP:0025245	Cutaneous cyst	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0011355	HP:0000987	Atypical scarring of skin	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011355	HP:0025245	Cutaneous cyst	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0011355	HP:0025245	Cutaneous cyst	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011355	HP:0012733	Macule	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011355	HP:0000991	Xanthomatosis	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent		40
HP:0011355	HP:0200036	Skin nodule	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency			40
HP:0011355	HP:0000991	Xanthomatosis	1	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2			40
HP:0011355	HP:0000991	Xanthomatosis	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1			9
HP:0011355	HP:0200036	Skin nodule	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1			9
HP:0011355	HP:0000991	Xanthomatosis	1	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial			7
HP:0011355	HP:0000991	Xanthomatosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		356
HP:0011355	HP:0000991	Xanthomatosis	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2			356
HP:0011355	HP:0200036	Skin nodule	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2			356
HP:0011355	HP:0000991	Xanthomatosis	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0011355	HP:0000991	Xanthomatosis	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0011355	HP:0200036	Skin nodule	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0011355	HP:0200036	Skin nodule	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0011355	HP:0200034	Papule	1	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent		5
HP:0011355	HP:0200042	Skin ulcer	1	AQP5 CL E G H	362	638	ORPHA:2337	Non-epidermolytic palmoplantar keratoderma	HP:0040282 - Frequent		5
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia			179
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		147
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011355	HP:0000987	Atypical scarring of skin	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0011355	HP:0010609	Skin tags	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011355	HP:0010781	Skin dimple	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011355	HP:0000987	Atypical scarring of skin	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0011355	HP:0000987	Atypical scarring of skin	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0011355	HP:0000987	Atypical scarring of skin	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0011355	HP:0200041	Skin erosion	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent		1
HP:0011355	HP:0003764	Nevus	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent		1
HP:0011355	HP:0012733	Macule	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0200036	Skin nodule	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0011355	HP:0200036	Skin nodule	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0011355	HP:0003764	Nevus	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011355	HP:0003764	Nevus	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011355	HP:0025104	Capillary malformation	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011355	HP:0025104	Capillary malformation	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011355	HP:0010781	Skin dimple	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0011355	HP:0003764	Nevus	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0011355	HP:0025104	Capillary malformation	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011355	HP:0200042	Skin ulcer	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		71
HP:0011355	HP:0200042	Skin ulcer	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		5
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040283 - Occasional		3267
HP:0011355	HP:0012733	Macule	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0011355	HP:0012733	Macule	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0011355	HP:0200034	Papule	1	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis			86
HP:0011355	HP:0200036	Skin nodule	1	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis			86
HP:0011355	HP:0200035	Skin plaque	1	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040282 - Frequent		86
HP:0011355	HP:0200034	Papule	1	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf			86
HP:0011355	HP:0100276	Skin pit	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease			86
HP:0011355	HP:0200037	Skin vesicle	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040283 - Occasional		86
HP:0011355	HP:0200036	Skin nodule	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease			86
HP:0011355	HP:0012733	Macule	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040283 - Occasional		86
HP:0011355	HP:0100276	Skin pit	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011355	HP:0200036	Skin nodule	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011355	HP:0012733	Macule	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease			86
HP:0011355	HP:0200037	Skin vesicle	1	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus	HP:0040281 - Very frequent		56
HP:0011355	HP:0200041	Skin erosion	1	ATP2C1 CL E G H	27032	13211	ORPHA:2841	Familial benign chronic pemphigus	HP:0040281 - Very frequent		56
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome			5
HP:0011355	HP:0000987	Atypical scarring of skin	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent		192
HP:0011355	HP:0000987	Atypical scarring of skin	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0011355	HP:0200042	Skin ulcer	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011355	HP:0100276	Skin pit	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011355	HP:0200036	Skin nodule	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43			8
HP:0011355	HP:0000987	Atypical scarring of skin	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0011355	HP:0100276	Skin pit	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0011355	HP:0010609	Skin tags	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0011355	HP:0010781	Skin dimple	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0011355	HP:0100276	Skin pit	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011355	HP:0000987	Atypical scarring of skin	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011355	HP:0000987	Atypical scarring of skin	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011355	HP:0010781	Skin dimple	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0011355	HP:0003764	Nevus	1	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		184
HP:0011355	HP:0010781	Skin dimple	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011355	HP:0003764	Nevus	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0011355	HP:0000987	Atypical scarring of skin	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0011355	HP:0000987	Atypical scarring of skin	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0011355	HP:0200036	Skin nodule	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		1
HP:0011355	HP:0200036	Skin nodule	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		1
HP:0011355	HP:0003764	Nevus	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0011355	HP:0010609	Skin tags	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0011355	HP:0000987	Atypical scarring of skin	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0011355	HP:0001053	Hypopigmented skin patches	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0011355	HP:0012733	Macule	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0011355	HP:0012733	Macule	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011355	HP:0003764	Nevus	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011355	HP:0200042	Skin ulcer	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent		1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC			1
HP:0011355	HP:0012733	Macule	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011355	HP:0003764	Nevus	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011355	HP:0012733	Macule	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011355	HP:0200042	Skin ulcer	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011355	HP:0003764	Nevus	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011355	HP:0012733	Macule	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011355	HP:0003764	Nevus	1	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant			276
HP:0011355	HP:0012733	Macule	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011355	HP:0003764	Nevus	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011355	HP:0200036	Skin nodule	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011355	HP:0003764	Nevus	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011355	HP:0012733	Macule	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011355	HP:0200034	Papule	1	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040281 - Very frequent		276
HP:0011355	HP:0200036	Skin nodule	1	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum			276
HP:0011355	HP:0003764	Nevus	1	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum			276
HP:0011355	HP:0001053	Hypopigmented skin patches	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		5769
HP:0011355	HP:0012733	Macule	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0011355	HP:0001053	Hypopigmented skin patches	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		7642
HP:0011355	HP:0012733	Macule	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0011355	HP:0012733	Macule	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0011355	HP:0010609	Skin tags	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011355	HP:0001053	Hypopigmented skin patches	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1086
HP:0011355	HP:0012733	Macule	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0011355	HP:0012733	Macule	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0011355	HP:0001053	Hypopigmented skin patches	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional		109
HP:0011355	HP:0200042	Skin ulcer	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent		109
HP:0011355	HP:0200035	Skin plaque	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0011355	HP:0200036	Skin nodule	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0011355	HP:0012733	Macule	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011355	HP:0012733	Macule	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011355	HP:0012733	Macule	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011355	HP:0003764	Nevus	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0011355	HP:0000987	Atypical scarring of skin	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0011355	HP:0000987	Atypical scarring of skin	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0011355	HP:0012733	Macule	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0011355	HP:0000987	Atypical scarring of skin	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0011355	HP:0012733	Macule	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0011355	HP:0200034	Papule	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0011355	HP:0200036	Skin nodule	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0011355	HP:0000987	Atypical scarring of skin	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0011355	HP:0003764	Nevus	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011355	HP:0010781	Skin dimple	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011355	HP:0010781	Skin dimple	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011355	HP:0200035	Skin plaque	1	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris			33
HP:0011355	HP:0200034	Papule	1	CARD14 CL E G H	79092	16446	ORPHA:2897	Pityriasis rubra pilaris	HP:0040281 - Very frequent		33
HP:0011355	HP:0000987	Atypical scarring of skin	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0011355	HP:0012733	Macule	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0011355	HP:0200042	Skin ulcer	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent		11
HP:0011355	HP:0200042	Skin ulcer	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011355	HP:0003764	Nevus	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011355	HP:0012733	Macule	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011355	HP:0010609	Skin tags	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011355	HP:0010781	Skin dimple	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0011355	HP:0200042	Skin ulcer	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0011355	HP:0200042	Skin ulcer	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011355	HP:0200034	Papule	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0200036	Skin nodule	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0011355	HP:0200042	Skin ulcer	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0011355	HP:0200042	Skin ulcer	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011355	HP:0200042	Skin ulcer	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040281 - Very frequent		56
HP:0011355	HP:0200042	Skin ulcer	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive			56
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0011355	HP:0200035	Skin plaque	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0011355	HP:0200042	Skin ulcer	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0011355	HP:0010781	Skin dimple	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0011355	HP:0003764	Nevus	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0011355	HP:0003764	Nevus	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0011355	HP:0025245	Cutaneous cyst	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0011355	HP:0003764	Nevus	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0011355	HP:0200042	Skin ulcer	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011355	HP:0003764	Nevus	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0011355	HP:0000987	Atypical scarring of skin	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0011355	HP:0003764	Nevus	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011355	HP:0025104	Capillary malformation	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011355	HP:0010781	Skin dimple	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011355	HP:0003764	Nevus	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011355	HP:0025104	Capillary malformation	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011355	HP:0003764	Nevus	1	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		145
HP:0011355	HP:0003764	Nevus	1	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3			145
HP:0011355	HP:0200036	Skin nodule	1	CDK4 CL E G H	1019	1773	ORPHA:99971	Well-differentiated liposarcoma			145
HP:0011355	HP:0012733	Macule	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011355	HP:0012733	Macule	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011355	HP:0012733	Macule	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011355	HP:0003764	Nevus	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0011355	HP:0025104	Capillary malformation	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0011355	HP:0012733	Macule	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0011355	HP:0003764	Nevus	1	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		289
HP:0011355	HP:0003764	Nevus	1	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		1
HP:0011355	HP:0012733	Macule	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011355	HP:0012733	Macule	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011355	HP:0012733	Macule	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011355	HP:0025245	Cutaneous cyst	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011355	HP:0012733	Macule	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011355	HP:0000987	Atypical scarring of skin	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0011355	HP:0000987	Atypical scarring of skin	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011355	HP:0200035	Skin plaque	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040283 - Occasional		1371
HP:0011355	HP:0200034	Papule	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma			1371
HP:0011355	HP:0010609	Skin tags	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0011355	HP:0010609	Skin tags	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0011355	HP:0003764	Nevus	1	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome			52
HP:0011355	HP:0003764	Nevus	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0011355	HP:0000987	Atypical scarring of skin	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0011355	HP:0000987	Atypical scarring of skin	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0011355	HP:0200035	Skin plaque	1	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent
HP:0011355	HP:0200034	Papule	1	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent
HP:0011355	HP:0012733	Macule	1	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0011355	HP:0100276	Skin pit	1	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3
HP:0011355	HP:0100276	Skin pit	1	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0011355	HP:0012733	Macule	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0011355	HP:0000987	Atypical scarring of skin	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0011355	HP:0200034	Papule	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040282 - Frequent		3
HP:0011355	HP:0200042	Skin ulcer	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		3
HP:0011355	HP:0003764	Nevus	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0011355	HP:0200042	Skin ulcer	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0011355	HP:0000987	Atypical scarring of skin	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional
HP:0011355	HP:0000987	Atypical scarring of skin	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0011355	HP:0000987	Atypical scarring of skin	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0011355	HP:0200034	Papule	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1			2
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011355	HP:0012733	Macule	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011355	HP:0001056	Milia	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare		129
HP:0011355	HP:0001056	Milia	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare		129
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa			129
HP:0011355	HP:0032156	Skin detachment	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		129
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0011355	HP:0000993	Molluscoid pseudotumors	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0011355	HP:0200034	Papule	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0011355	HP:0200036	Skin nodule	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0011355	HP:0200036	Skin nodule	1	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans			373
HP:0011355	HP:0200042	Skin ulcer	1	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040282 - Frequent		373
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0011355	HP:0012733	Macule	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0011355	HP:0010781	Skin dimple	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0011355	HP:0200041	Skin erosion	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent		284
HP:0011355	HP:0200035	Skin plaque	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0011355	HP:0010609	Skin tags	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0011355	HP:0200042	Skin ulcer	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040283 - Occasional		749
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent		749
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011355	HP:0000993	Molluscoid pseudotumors	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011355	HP:0200036	Skin nodule	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011355	HP:0003764	Nevus	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011355	HP:0012733	Macule	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0011355	HP:0000993	Molluscoid pseudotumors	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0011355	HP:0200034	Papule	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0011355	HP:0200036	Skin nodule	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0000993	Molluscoid pseudotumors	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0200036	Skin nodule	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0011355	HP:0000993	Molluscoid pseudotumors	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0011355	HP:0200034	Papule	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0011355	HP:0200036	Skin nodule	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0000993	Molluscoid pseudotumors	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0200036	Skin nodule	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040281 - Very frequent		263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0011355	HP:0200041	Skin erosion	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040281 - Very frequent		263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent		263
HP:0011355	HP:0200041	Skin erosion	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent		263
HP:0011355	HP:0003764	Nevus	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa			263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional		263
HP:0011355	HP:0200035	Skin plaque	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040282 - Frequent		263
HP:0011355	HP:0200034	Papule	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional		263
HP:0011355	HP:0200036	Skin nodule	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa			263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa			263
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant			263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant			263
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	OMIM:604129	Epidermolysis bullosa pruriginosa	.		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails			263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent		263
HP:0011355	HP:0200035	Skin plaque	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form			263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form			263
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0011355	HP:0200034	Papule	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form			263
HP:0011355	HP:0200037	Skin vesicle	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040283 - Occasional		263
HP:0011355	HP:0200041	Skin erosion	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040283 - Occasional		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form			263
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0011355	HP:0200041	Skin erosion	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0011355	HP:0000987	Atypical scarring of skin	1	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn			263
HP:0011355	HP:0001056	Milia	1	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.		263
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn			263
HP:0011355	HP:0010781	Skin dimple	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0011355	HP:0001053	Hypopigmented skin patches	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011355	HP:0012733	Macule	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0011355	HP:0001053	Hypopigmented skin patches	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent		6
HP:0011355	HP:0010781	Skin dimple	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0011355	HP:0100276	Skin pit	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0010609	Skin tags	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0010781	Skin dimple	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0010781	Skin dimple	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0000987	Atypical scarring of skin	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent		72
HP:0011355	HP:0000987	Atypical scarring of skin	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0011355	HP:0000987	Atypical scarring of skin	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011355	HP:0012733	Macule	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011355	HP:0000987	Atypical scarring of skin	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0011355	HP:0000987	Atypical scarring of skin	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0011355	HP:0000987	Atypical scarring of skin	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0011355	HP:0200034	Papule	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional		4
HP:0011355	HP:0200041	Skin erosion	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional		4
HP:0011355	HP:0012733	Macule	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional		4
HP:0011355	HP:0100276	Skin pit	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0010609	Skin tags	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0010781	Skin dimple	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0010781	Skin dimple	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0011355	HP:0200037	Skin vesicle	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0011355	HP:0200042	Skin ulcer	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0011355	HP:0012733	Macule	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		160
HP:0011355	HP:0010781	Skin dimple	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011355	HP:0010781	Skin dimple	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent		10
HP:0011355	HP:0200035	Skin plaque	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent		10
HP:0011355	HP:0200042	Skin ulcer	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional		10
HP:0011355	HP:0200034	Papule	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0011355	HP:0200042	Skin ulcer	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0011355	HP:0200036	Skin nodule	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0011355	HP:0200036	Skin nodule	1	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma			88
HP:0011355	HP:0025245	Cutaneous cyst	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0011355	HP:0010609	Skin tags	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0011355	HP:0000987	Atypical scarring of skin	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011355	HP:0001053	Hypopigmented skin patches	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0011355	HP:0012733	Macule	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011355	HP:0012733	Macule	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011355	HP:0200042	Skin ulcer	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		27
HP:0011355	HP:0012733	Macule	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		27
HP:0011355	HP:0200042	Skin ulcer	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		111
HP:0011355	HP:0012733	Macule	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		111
HP:0011355	HP:0200042	Skin ulcer	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional
HP:0011355	HP:0012733	Macule	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0011355	HP:0001056	Milia	1	CYLD CL E G H	1540	2584	OMIM:605041	Brooke-Spiegler syndrome	.		126
HP:0011355	HP:0200036	Skin nodule	1	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis			126
HP:0011355	HP:0200034	Papule	1	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma	HP:0040281 - Very frequent		126
HP:0011355	HP:0200036	Skin nodule	1	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma			126
HP:0011355	HP:0003764	Nevus	1	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma			101
HP:0011355	HP:0025104	Capillary malformation	1	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma			101
HP:0011355	HP:0003764	Nevus	1	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent		2
HP:0011355	HP:0000991	Xanthomatosis	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011355	HP:0000991	Xanthomatosis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0011355	HP:0200036	Skin nodule	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011355	HP:0200036	Skin nodule	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0011355	HP:0010609	Skin tags	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0011355	HP:0010781	Skin dimple	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0011355	HP:0200034	Papule	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011355	HP:0001053	Hypopigmented skin patches	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		30
HP:0011355	HP:0003764	Nevus	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0011355	HP:0012733	Macule	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		30
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E			30
HP:0011355	HP:0200036	Skin nodule	1	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0011355	HP:0010781	Skin dimple	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional		72
HP:0011355	HP:0010781	Skin dimple	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0011355	HP:0000987	Atypical scarring of skin	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0011355	HP:0010781	Skin dimple	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0011355	HP:0000987	Atypical scarring of skin	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0011355	HP:0003764	Nevus	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0011355	HP:0025104	Capillary malformation	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0011355	HP:0001053	Hypopigmented skin patches	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0011355	HP:0200037	Skin vesicle	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0011355	HP:0200042	Skin ulcer	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0011355	HP:0012733	Macule	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		65
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		9
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0011355	HP:0200042	Skin ulcer	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent		9
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita			9
HP:0011355	HP:0003764	Nevus	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		18
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0011355	HP:0200042	Skin ulcer	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent		217
HP:0011355	HP:0010781	Skin dimple	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0011355	HP:0010781	Skin dimple	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0011355	HP:0200037	Skin vesicle	1	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES			2
HP:0011355	HP:0000987	Atypical scarring of skin	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0011355	HP:0200041	Skin erosion	1	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011355	HP:0012733	Macule	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0011355	HP:0012733	Macule	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011355	HP:0003764	Nevus	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0011355	HP:0003764	Nevus	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011355	HP:0025104	Capillary malformation	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011355	HP:0010781	Skin dimple	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011355	HP:0003764	Nevus	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011355	HP:0025104	Capillary malformation	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011355	HP:0010781	Skin dimple	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011355	HP:0010781	Skin dimple	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0011355	HP:0003764	Nevus	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011355	HP:0025104	Capillary malformation	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011355	HP:0010781	Skin dimple	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011355	HP:0010781	Skin dimple	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0011355	HP:0010781	Skin dimple	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0011355	HP:0001053	Hypopigmented skin patches	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0011355	HP:0010781	Skin dimple	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0011355	HP:0000987	Atypical scarring of skin	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011355	HP:0200035	Skin plaque	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011355	HP:0200034	Papule	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent		14
HP:0011355	HP:0200036	Skin nodule	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis			14
HP:0011355	HP:0200035	Skin plaque	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011355	HP:0200034	Papule	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011355	HP:0200041	Skin erosion	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease			14
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			86
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			56
HP:0011355	HP:0003764	Nevus	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011355	HP:0025104	Capillary malformation	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011355	HP:0100276	Skin pit	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0011355	HP:0010609	Skin tags	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome			6
HP:0011355	HP:0001053	Hypopigmented skin patches	1	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.		67
HP:0011355	HP:0100276	Skin pit	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011355	HP:0010609	Skin tags	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011355	HP:0001053	Hypopigmented skin patches	1	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		55
HP:0011355	HP:0001053	Hypopigmented skin patches	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.		55
HP:0011355	HP:0003764	Nevus	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011355	HP:0010609	Skin tags	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0011355	HP:0010609	Skin tags	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0011355	HP:0200034	Papule	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.		257
HP:0011355	HP:0100276	Skin pit	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0011355	HP:0025104	Capillary malformation	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent		40
HP:0011355	HP:0003764	Nevus	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0011355	HP:0200042	Skin ulcer	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0011355	HP:0003764	Nevus	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011355	HP:0025104	Capillary malformation	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011355	HP:0010781	Skin dimple	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0011355	HP:0200034	Papule	1	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent		62
HP:0011355	HP:0012733	Macule	1	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent		62
HP:0011355	HP:0012733	Macule	1	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease			151
HP:0011355	HP:0200036	Skin nodule	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		4
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011355	HP:0000987	Atypical scarring of skin	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011355	HP:0012733	Macule	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011355	HP:0000987	Atypical scarring of skin	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011355	HP:0200042	Skin ulcer	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		51
HP:0011355	HP:0025104	Capillary malformation	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040281 - Very frequent		3
HP:0011355	HP:0012733	Macule	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional		3
HP:0011355	HP:0025104	Capillary malformation	1	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2			3
HP:0011355	HP:0000987	Atypical scarring of skin	1	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent		3
HP:0011355	HP:0200042	Skin ulcer	1	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional		3
HP:0011355	HP:0200041	Skin erosion	1	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent		3
HP:0011355	HP:0010781	Skin dimple	1	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent		3
HP:0011355	HP:0000991	Xanthomatosis	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1			1
HP:0011355	HP:0200036	Skin nodule	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1			1
HP:0011355	HP:0200034	Papule	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0011355	HP:0200036	Skin nodule	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0011355	HP:0012733	Macule	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		106
HP:0011355	HP:0003764	Nevus	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0011355	HP:0012733	Macule	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		106
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		54
HP:0011355	HP:0003764	Nevus	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0011355	HP:0012733	Macule	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		54
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0011355	HP:0012733	Macule	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		158
HP:0011355	HP:0012733	Macule	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		158
HP:0011355	HP:0003764	Nevus	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0011355	HP:0012733	Macule	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		158
HP:0011355	HP:0200034	Papule	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	.		158
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		83
HP:0011355	HP:0003764	Nevus	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0011355	HP:0012733	Macule	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		83
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0011355	HP:0012733	Macule	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0011355	HP:0012733	Macule	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0011355	HP:0000987	Atypical scarring of skin	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0011355	HP:0012733	Macule	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0011355	HP:0000987	Atypical scarring of skin	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0011355	HP:0012733	Macule	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0011355	HP:0012733	Macule	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0011355	HP:0001053	Hypopigmented skin patches	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0011355	HP:0003764	Nevus	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0011355	HP:0010781	Skin dimple	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia			36
HP:0011355	HP:0012733	Macule	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0011355	HP:0010609	Skin tags	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0011355	HP:0010781	Skin dimple	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0011355	HP:0010609	Skin tags	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0011355	HP:0100276	Skin pit	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0011355	HP:0010609	Skin tags	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0011355	HP:0100276	Skin pit	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0011355	HP:0100276	Skin pit	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0011355	HP:0010609	Skin tags	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0011355	HP:0100276	Skin pit	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0011355	HP:0100276	Skin pit	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0011355	HP:0000987	Atypical scarring of skin	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0011355	HP:0003764	Nevus	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011355	HP:0200042	Skin ulcer	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency			28
HP:0011355	HP:0000987	Atypical scarring of skin	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		340
HP:0011355	HP:0012733	Macule	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0011355	HP:0012733	Macule	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		58
HP:0011355	HP:0012733	Macule	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0011355	HP:0010781	Skin dimple	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		410
HP:0011355	HP:0012733	Macule	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0011355	HP:0012733	Macule	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		147
HP:0011355	HP:0012733	Macule	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0011355	HP:0012733	Macule	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0011355	HP:0012733	Macule	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0011355	HP:0012733	Macule	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		87
HP:0011355	HP:0012733	Macule	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0011355	HP:0010781	Skin dimple	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011355	HP:0012733	Macule	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		73
HP:0011355	HP:0012733	Macule	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0011355	HP:0012733	Macule	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		157
HP:0011355	HP:0012733	Macule	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0011355	HP:0012733	Macule	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		53
HP:0011355	HP:0012733	Macule	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0011355	HP:0012733	Macule	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		107
HP:0011355	HP:0012733	Macule	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0011355	HP:0200034	Papule	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		59
HP:0011355	HP:0200036	Skin nodule	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		59
HP:0011355	HP:0010781	Skin dimple	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0011355	HP:0003764	Nevus	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0011355	HP:0200036	Skin nodule	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional		1361
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0011355	HP:0000987	Atypical scarring of skin	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional		136
HP:0011355	HP:0001056	Milia	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional		136
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040281 - Very frequent		136
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0011355	HP:0200036	Skin nodule	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0011355	HP:0010609	Skin tags	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040283 - Occasional		18
HP:0011355	HP:0010609	Skin tags	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.		18
HP:0011355	HP:0000991	Xanthomatosis	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		172
HP:0011355	HP:0200036	Skin nodule	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0011355	HP:0003764	Nevus	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0011355	HP:0025104	Capillary malformation	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0011355	HP:0010609	Skin tags	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0011355	HP:0010609	Skin tags	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0011355	HP:0003764	Nevus	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0011355	HP:0200036	Skin nodule	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0011355	HP:0003764	Nevus	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0011355	HP:0003764	Nevus	1	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans			145
HP:0011355	HP:0003764	Nevus	1	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic			145
HP:0011355	HP:0001053	Hypopigmented skin patches	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040283 - Occasional		145
HP:0011355	HP:0012733	Macule	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0011355	HP:0100276	Skin pit	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0010609	Skin tags	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0010781	Skin dimple	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0003764	Nevus	1	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome			61
HP:0011355	HP:0000987	Atypical scarring of skin	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0011355	HP:0003764	Nevus	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0011355	HP:0200034	Papule	1	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040281 - Very frequent		332
HP:0011355	HP:0010609	Skin tags	1	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040281 - Very frequent		332
HP:0011355	HP:0000987	Atypical scarring of skin	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia			493
HP:0011355	HP:0100276	Skin pit	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011355	HP:0200034	Papule	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome			493
HP:0011355	HP:0010609	Skin tags	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome			233
HP:0011355	HP:0100276	Skin pit	1	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0011355	HP:0010609	Skin tags	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0011355	HP:0003764	Nevus	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011355	HP:0000987	Atypical scarring of skin	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0011355	HP:0200036	Skin nodule	1	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma			105
HP:0011355	HP:0010781	Skin dimple	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0011355	HP:0003764	Nevus	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011355	HP:0025104	Capillary malformation	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011355	HP:0010781	Skin dimple	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011355	HP:0000991	Xanthomatosis	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0011355	HP:0200036	Skin nodule	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0011355	HP:0012733	Macule	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0011355	HP:0001053	Hypopigmented skin patches	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare		160
HP:0011355	HP:0000987	Atypical scarring of skin	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0011355	HP:0200041	Skin erosion	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent		29
HP:0011355	HP:0100276	Skin pit	1	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0011355	HP:0100276	Skin pit	1	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0011355	HP:0100276	Skin pit	1	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0011355	HP:0100276	Skin pit	1	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0011355	HP:0100276	Skin pit	1	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0011355	HP:0200042	Skin ulcer	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0011355	HP:0200042	Skin ulcer	1	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040282 - Frequent		86
HP:0011355	HP:0100276	Skin pit	1	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0011355	HP:0200042	Skin ulcer	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0011355	HP:0200034	Papule	1	GGCX CL E G H	2677	4247	ORPHA:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	HP:0040281 - Very frequent		129
HP:0011355	HP:0200034	Papule	1	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY			129
HP:0011355	HP:0200034	Papule	1	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0011355	HP:0000991	Xanthomatosis	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1			98
HP:0011355	HP:0200036	Skin nodule	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1			98
HP:0011355	HP:0031057	Skin fissure	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0011355	HP:0012733	Macule	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		68
HP:0011355	HP:0100276	Skin pit	1	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0011355	HP:0000987	Atypical scarring of skin	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness			199
HP:0011355	HP:0200034	Papule	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040283 - Occasional		199
HP:0011355	HP:0000987	Atypical scarring of skin	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011355	HP:0200035	Skin plaque	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011355	HP:0200036	Skin nodule	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011355	HP:0200034	Papule	1	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0011355	HP:0012733	Macule	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		74
HP:0011355	HP:0012733	Macule	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		12
HP:0011355	HP:0200034	Papule	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011355	HP:0000987	Atypical scarring of skin	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011355	HP:0200035	Skin plaque	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011355	HP:0200036	Skin nodule	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011355	HP:0200036	Skin nodule	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0011355	HP:0200035	Skin plaque	1	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040283 - Occasional		37
HP:0011355	HP:0200034	Papule	1	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040283 - Occasional		37
HP:0011355	HP:0200036	Skin nodule	1	GLMN CL E G H	11146	14373	ORPHA:83454	Glomuvenous malformation	HP:0040282 - Frequent		37
HP:0011355	HP:0200036	Skin nodule	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0011355	HP:0200041	Skin erosion	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040281 - Very frequent		16
HP:0011355	HP:0003764	Nevus	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040282 - Frequent		16
HP:0011355	HP:0012733	Macule	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0011355	HP:0100276	Skin pit	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0011355	HP:0010609	Skin tags	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome			2
HP:0011355	HP:0010609	Skin tags	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1			2
HP:0011355	HP:0200034	Papule	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040282 - Frequent		7
HP:0011355	HP:0200042	Skin ulcer	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional		7
HP:0011355	HP:0003764	Nevus	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0011355	HP:0025104	Capillary malformation	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0011355	HP:0012733	Macule	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0011355	HP:0003764	Nevus	1	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple			7
HP:0011355	HP:0025104	Capillary malformation	1	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple			7
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011355	HP:0012733	Macule	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0011355	HP:0012733	Macule	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0011355	HP:0200036	Skin nodule	1	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive			101
HP:0011355	HP:0200034	Papule	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040283 - Occasional		101
HP:0011355	HP:0200036	Skin nodule	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia			101
HP:0011355	HP:0012733	Macule	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040283 - Occasional		101
HP:0011355	HP:0200036	Skin nodule	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0011355	HP:0200036	Skin nodule	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0011355	HP:0200036	Skin nodule	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0011355	HP:0010781	Skin dimple	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011355	HP:0012733	Macule	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0011355	HP:0001053	Hypopigmented skin patches	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0011355	HP:0100276	Skin pit	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011355	HP:0010609	Skin tags	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011355	HP:0100276	Skin pit	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011355	HP:0010609	Skin tags	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011355	HP:0012733	Macule	1	GPNMB CL E G H	10457	4462	OMIM:617920	Amyloidosis, primary localized cutaneous, 3
HP:0011355	HP:0010781	Skin dimple	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0011355	HP:0100276	Skin pit	1	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome			12
HP:0011355	HP:0100276	Skin pit	1	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2			12
HP:0011355	HP:0100276	Skin pit	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011355	HP:0003764	Nevus	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0025104	Capillary malformation	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0010781	Skin dimple	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0003764	Nevus	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0025104	Capillary malformation	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0010781	Skin dimple	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0003764	Nevus	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0025104	Capillary malformation	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0010781	Skin dimple	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0000987	Atypical scarring of skin	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0011355	HP:0003764	Nevus	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0011355	HP:0003764	Nevus	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0011355	HP:0025104	Capillary malformation	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0011355	HP:0003764	Nevus	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0011355	HP:0025104	Capillary malformation	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0011355	HP:0012733	Macule	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0011355	HP:0010609	Skin tags	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011355	HP:0003764	Nevus	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011355	HP:0010609	Skin tags	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011355	HP:0010781	Skin dimple	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011355	HP:0012733	Macule	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011355	HP:0100276	Skin pit	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011355	HP:0010609	Skin tags	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011355	HP:0200035	Skin plaque	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0011355	HP:0200034	Papule	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0011355	HP:0200042	Skin ulcer	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0011355	HP:0200042	Skin ulcer	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent		580
HP:0011355	HP:0200042	Skin ulcer	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0011355	HP:0200042	Skin ulcer	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0011355	HP:0001053	Hypopigmented skin patches	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent		11
HP:0011355	HP:0010781	Skin dimple	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0011355	HP:0003764	Nevus	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0011355	HP:0003764	Nevus	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0011355	HP:0003764	Nevus	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0011355	HP:0000987	Atypical scarring of skin	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0011355	HP:0010781	Skin dimple	1	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0011355	HP:0001053	Hypopigmented skin patches	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0011355	HP:0100276	Skin pit	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0011355	HP:0200034	Papule	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		4
HP:0011355	HP:0200036	Skin nodule	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0011355	HP:0200042	Skin ulcer	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0011355	HP:0012733	Macule	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent		4
HP:0011355	HP:0200036	Skin nodule	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0011355	HP:0200042	Skin ulcer	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0011355	HP:0200034	Papule	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0011355	HP:0200042	Skin ulcer	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0011355	HP:0200034	Papule	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0011355	HP:0200042	Skin ulcer	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0011355	HP:0012733	Macule	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent
HP:0011355	HP:0012733	Macule	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent		2
HP:0011355	HP:0200042	Skin ulcer	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0011355	HP:0200036	Skin nodule	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		2
HP:0011355	HP:0200042	Skin ulcer	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0011355	HP:0001053	Hypopigmented skin patches	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent		2
HP:0011355	HP:0200042	Skin ulcer	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0011355	HP:0200035	Skin plaque	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0011355	HP:0200036	Skin nodule	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0011355	HP:0200036	Skin nodule	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0011355	HP:0012733	Macule	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011355	HP:0200036	Skin nodule	1	HMGA2 CL E G H	8091	5009	ORPHA:99971	Well-differentiated liposarcoma			2
HP:0011355	HP:0010781	Skin dimple	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0011355	HP:0100276	Skin pit	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0011355	HP:0100276	Skin pit	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0011355	HP:0010609	Skin tags	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0011355	HP:0010781	Skin dimple	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0011355	HP:0003764	Nevus	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0011355	HP:0003764	Nevus	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011355	HP:0003764	Nevus	1	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic			113
HP:0011355	HP:0003764	Nevus	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0011355	HP:0003764	Nevus	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital			113
HP:0011355	HP:0003764	Nevus	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011355	HP:0003764	Nevus	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011355	HP:0012733	Macule	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0011355	HP:0200036	Skin nodule	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0011355	HP:0200036	Skin nodule	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0011355	HP:0200035	Skin plaque	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011355	HP:0200034	Papule	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011355	HP:0200036	Skin nodule	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease			15
HP:0011355	HP:0200042	Skin ulcer	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional		15
HP:0011355	HP:0200036	Skin nodule	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0011355	HP:0200036	Skin nodule	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease			29
HP:0011355	HP:0200042	Skin ulcer	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional		29
HP:0011355	HP:0000987	Atypical scarring of skin	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011355	HP:0000987	Atypical scarring of skin	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0011355	HP:0200035	Skin plaque	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0011355	HP:0003764	Nevus	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011355	HP:0025245	Cutaneous cyst	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011355	HP:0012733	Macule	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011355	HP:0200036	Skin nodule	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011355	HP:0003764	Nevus	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011355	HP:0012733	Macule	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011355	HP:0200034	Papule	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		60
HP:0011355	HP:0200036	Skin nodule	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0011355	HP:0000987	Atypical scarring of skin	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011355	HP:0000987	Atypical scarring of skin	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0011355	HP:0000987	Atypical scarring of skin	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0011355	HP:0012733	Macule	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011355	HP:0003764	Nevus	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0011355	HP:0025104	Capillary malformation	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0011355	HP:0003764	Nevus	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0011355	HP:0012733	Macule	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0011355	HP:0012733	Macule	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011355	HP:0003764	Nevus	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0011355	HP:0025104	Capillary malformation	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0011355	HP:0200036	Skin nodule	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		7
HP:0011355	HP:0001053	Hypopigmented skin patches	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent		52
HP:0011355	HP:0200042	Skin ulcer	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0011355	HP:0012733	Macule	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent		8
HP:0011355	HP:0200034	Papule	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0011355	HP:0200036	Skin nodule	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0011355	HP:0200034	Papule	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0200036	Skin nodule	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0011355	HP:0200034	Papule	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0200036	Skin nodule	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0011355	HP:0200036	Skin nodule	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0011355	HP:0200042	Skin ulcer	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0011355	HP:0200034	Papule	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040282 - Frequent		14
HP:0011355	HP:0200042	Skin ulcer	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		14
HP:0011355	HP:0200034	Papule	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040282 - Frequent		196
HP:0011355	HP:0200042	Skin ulcer	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		196
HP:0011355	HP:0200034	Papule	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040282 - Frequent		4
HP:0011355	HP:0200042	Skin ulcer	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011355	HP:0200034	Papule	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0011355	HP:0200036	Skin nodule	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0011355	HP:0012733	Macule	1	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to			2
HP:0011355	HP:0001053	Hypopigmented skin patches	1	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0011355	HP:0200035	Skin plaque	1	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent
HP:0011355	HP:0200034	Papule	1	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent
HP:0011355	HP:0012733	Macule	1	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0011355	HP:0000987	Atypical scarring of skin	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0011355	HP:0000987	Atypical scarring of skin	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0011355	HP:0000987	Atypical scarring of skin	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0011355	HP:0012733	Macule	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0011355	HP:0200036	Skin nodule	1	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0011355	HP:0031452	Lichenoid skin lesion	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0011355	HP:0000987	Atypical scarring of skin	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0011355	HP:0200042	Skin ulcer	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0011355	HP:0001053	Hypopigmented skin patches	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent		4
HP:0011355	HP:0200042	Skin ulcer	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0011355	HP:0100276	Skin pit	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0011355	HP:0100276	Skin pit	1	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus			99
HP:0011355	HP:0100276	Skin pit	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0011355	HP:0100276	Skin pit	1	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome			99
HP:0011355	HP:0100276	Skin pit	1	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1			99
HP:0011355	HP:0010609	Skin tags	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0011355	HP:0200042	Skin ulcer	1	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I			114
HP:0011355	HP:0200042	Skin ulcer	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent		124
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita			124
HP:0011355	HP:0000987	Atypical scarring of skin	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011355	HP:0001056	Milia	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0011355	HP:0200041	Skin erosion	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent		124
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011355	HP:0000987	Atypical scarring of skin	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0011355	HP:0001056	Milia	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0011355	HP:0000987	Atypical scarring of skin	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011355	HP:0001056	Milia	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0011355	HP:0000987	Atypical scarring of skin	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare		124
HP:0011355	HP:0001056	Milia	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040284 - Very rare		124
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa			124
HP:0011355	HP:0032156	Skin detachment	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent		124
HP:0011355	HP:0100276	Skin pit	1	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0011355	HP:0100276	Skin pit	1	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0011355	HP:0001053	Hypopigmented skin patches	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0011355	HP:0003764	Nevus	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011355	HP:0010781	Skin dimple	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011355	HP:0012733	Macule	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011355	HP:0010781	Skin dimple	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011355	HP:0003764	Nevus	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011355	HP:0010781	Skin dimple	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011355	HP:0012733	Macule	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011355	HP:0100276	Skin pit	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0011355	HP:0012733	Macule	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0100276	Skin pit	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0011355	HP:0010781	Skin dimple	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011355	HP:0010781	Skin dimple	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0011355	HP:0003764	Nevus	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0011355	HP:0025104	Capillary malformation	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0011355	HP:0003764	Nevus	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0011355	HP:0025104	Capillary malformation	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			1
HP:0011355	HP:0012733	Macule	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011355	HP:0100276	Skin pit	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0011355	HP:0010609	Skin tags	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0011355	HP:0100276	Skin pit	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011355	HP:0012733	Macule	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011355	HP:0100276	Skin pit	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011355	HP:0012733	Macule	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities			9
HP:0011355	HP:0100276	Skin pit	1	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0011355	HP:0012733	Macule	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		4
HP:0011355	HP:0200035	Skin plaque	1	KDSR CL E G H	2531	4021	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent		4
HP:0011355	HP:0001053	Hypopigmented skin patches	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0011355	HP:0200042	Skin ulcer	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0011355	HP:0000987	Atypical scarring of skin	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011355	HP:0200036	Skin nodule	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0011355	HP:0200042	Skin ulcer	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0011355	HP:0010781	Skin dimple	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011355	HP:0200042	Skin ulcer	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0011355	HP:0200042	Skin ulcer	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0011355	HP:0200036	Skin nodule	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0011355	HP:0012733	Macule	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA			202
HP:0011355	HP:0010609	Skin tags	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0011355	HP:0200035	Skin plaque	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0011355	HP:0200034	Papule	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0011355	HP:0200036	Skin nodule	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0011355	HP:0200041	Skin erosion	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0011355	HP:0012733	Macule	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0011355	HP:0012733	Macule	1	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous			327
HP:0011355	HP:0001053	Hypopigmented skin patches	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040282 - Frequent		327
HP:0011355	HP:0012733	Macule	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040282 - Frequent		327
HP:0011355	HP:0012733	Macule	1	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011355	HP:0001053	Hypopigmented skin patches	1	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive			9
HP:0011355	HP:0012733	Macule	1	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive			9
HP:0011355	HP:0001053	Hypopigmented skin patches	1	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		9
HP:0011355	HP:0000987	Atypical scarring of skin	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011355	HP:0000987	Atypical scarring of skin	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0011355	HP:0001053	Hypopigmented skin patches	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0200034	Papule	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		1
HP:0011355	HP:0200036	Skin nodule	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0003764	Nevus	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0012733	Macule	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		1
HP:0011355	HP:0200034	Papule	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0200036	Skin nodule	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0011355	HP:0010781	Skin dimple	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0011355	HP:0010781	Skin dimple	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0011355	HP:0100276	Skin pit	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0011355	HP:0010609	Skin tags	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0011355	HP:0100276	Skin pit	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011355	HP:0012733	Macule	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011355	HP:0012733	Macule	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011355	HP:0000991	Xanthomatosis	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		196
HP:0011355	HP:0200036	Skin nodule	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0011355	HP:0003764	Nevus	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0011355	HP:0025104	Capillary malformation	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0011355	HP:0003764	Nevus	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0011355	HP:0003764	Nevus	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011355	HP:0003764	Nevus	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0011355	HP:0003764	Nevus	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040281 - Very frequent		196
HP:0011355	HP:0200042	Skin ulcer	1	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional		100
HP:0011355	HP:0200042	Skin ulcer	1	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040283 - Occasional		45
HP:0011355	HP:0001053	Hypopigmented skin patches	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			110
HP:0011355	HP:0001056	Milia	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional		110
HP:0011355	HP:0200034	Papule	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040284 - Very rare		110
HP:0011355	HP:0012733	Macule	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			110
HP:0011355	HP:0000987	Atypical scarring of skin	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011355	HP:0001056	Milia	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011355	HP:0000987	Atypical scarring of skin	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011355	HP:0001056	Milia	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0011355	HP:0200041	Skin erosion	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040282 - Frequent		110
HP:0011355	HP:0003764	Nevus	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011355	HP:0001053	Hypopigmented skin patches	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			110
HP:0011355	HP:0001056	Milia	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040283 - Occasional		110
HP:0011355	HP:0200034	Papule	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			110
HP:0011355	HP:0012733	Macule	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			110
HP:0011355	HP:0000987	Atypical scarring of skin	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0011355	HP:0001056	Milia	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.		110
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0011355	HP:0000987	Atypical scarring of skin	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0011355	HP:0001056	Milia	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		110
HP:0011355	HP:0200035	Skin plaque	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent		110
HP:0011355	HP:0200034	Papule	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0011355	HP:0200041	Skin erosion	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0011355	HP:0001056	Milia	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0011355	HP:0025245	Cutaneous cyst	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		27
HP:0011355	HP:0025245	Cutaneous cyst	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		23
HP:0011355	HP:0025245	Cutaneous cyst	1	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2			23
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis			67
HP:0011355	HP:0001053	Hypopigmented skin patches	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			173
HP:0011355	HP:0001056	Milia	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional		173
HP:0011355	HP:0200034	Papule	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040284 - Very rare		173
HP:0011355	HP:0012733	Macule	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			173
HP:0011355	HP:0000987	Atypical scarring of skin	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011355	HP:0001056	Milia	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011355	HP:0100276	Skin pit	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease			173
HP:0011355	HP:0200034	Papule	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease			173
HP:0011355	HP:0200037	Skin vesicle	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		173
HP:0011355	HP:0025245	Cutaneous cyst	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease			173
HP:0011355	HP:0012733	Macule	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease			173
HP:0011355	HP:0200037	Skin vesicle	1	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent		173
HP:0011355	HP:0001053	Hypopigmented skin patches	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011355	HP:0001056	Milia	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040283 - Occasional		173
HP:0011355	HP:0200034	Papule	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011355	HP:0012733	Macule	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011355	HP:0012733	Macule	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011355	HP:0000987	Atypical scarring of skin	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0011355	HP:0001056	Milia	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	.		173
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0011355	HP:0000987	Atypical scarring of skin	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0011355	HP:0001056	Milia	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		173
HP:0011355	HP:0200035	Skin plaque	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent		173
HP:0011355	HP:0200034	Papule	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0011355	HP:0200041	Skin erosion	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040283 - Occasional		173
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0011355	HP:0025245	Cutaneous cyst	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		41
HP:0011355	HP:0025245	Cutaneous cyst	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		4
HP:0011355	HP:0200035	Skin plaque	1	KRT83 CL E G H	3889	6460	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent		65
HP:0011355	HP:0000987	Atypical scarring of skin	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0011355	HP:0001056	Milia	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		116
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0011355	HP:0000987	Atypical scarring of skin	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011355	HP:0001056	Milia	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011355	HP:0200042	Skin ulcer	1	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.		116
HP:0011355	HP:0200035	Skin plaque	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011355	HP:0200041	Skin erosion	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0011355	HP:0000987	Atypical scarring of skin	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0011355	HP:0001056	Milia	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		167
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0011355	HP:0000987	Atypical scarring of skin	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011355	HP:0001056	Milia	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011355	HP:0200035	Skin plaque	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011355	HP:0200041	Skin erosion	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0011355	HP:0000987	Atypical scarring of skin	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0011355	HP:0001056	Milia	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		135
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0011355	HP:0000987	Atypical scarring of skin	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011355	HP:0001056	Milia	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011355	HP:0200035	Skin plaque	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011355	HP:0200041	Skin erosion	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0011355	HP:0003764	Nevus	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0011355	HP:0025104	Capillary malformation	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0011355	HP:0200042	Skin ulcer	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent		70
HP:0011355	HP:0200035	Skin plaque	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0011355	HP:0200034	Papule	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0011355	HP:0025528	Annular cutaneous lesion	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent		35
HP:0011355	HP:0000991	Xanthomatosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		2157
HP:0011355	HP:0000991	Xanthomatosis	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1			2157
HP:0011355	HP:0200036	Skin nodule	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1			2157
HP:0011355	HP:0000991	Xanthomatosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		73
HP:0011355	HP:0000991	Xanthomatosis	1	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive			73
HP:0011355	HP:0200036	Skin nodule	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0011355	HP:0000987	Atypical scarring of skin	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0011355	HP:0200034	Papule	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent		68
HP:0011355	HP:0200036	Skin nodule	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0011355	HP:0003764	Nevus	1	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.		68
HP:0011355	HP:0003764	Nevus	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0011355	HP:0000987	Atypical scarring of skin	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0011355	HP:0200036	Skin nodule	1	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0011355	HP:0100276	Skin pit	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0010609	Skin tags	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0010781	Skin dimple	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0010781	Skin dimple	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0010781	Skin dimple	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0011355	HP:0001056	Milia	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0011355	HP:0010781	Skin dimple	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0011355	HP:0003764	Nevus	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0011355	HP:0000991	Xanthomatosis	1	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY			35
HP:0011355	HP:0000991	Xanthomatosis	1	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency			35
HP:0011355	HP:0025249	Comedo	1	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7	.		12
HP:0011355	HP:0000991	Xanthomatosis	1	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0011355	HP:0200042	Skin ulcer	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011355	HP:0000991	Xanthomatosis	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0011355	HP:0000991	Xanthomatosis	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent		645
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent		645
HP:0011355	HP:0000991	Xanthomatosis	1	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040282 - Frequent		645
HP:0011355	HP:0200034	Papule	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011355	HP:0012733	Macule	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0011355	HP:0000991	Xanthomatosis	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0011355	HP:0200041	Skin erosion	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0011355	HP:0200035	Skin plaque	1	LORICRIN CL E G H	4014	6663	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent
HP:0011355	HP:0025249	Comedo	1	LPAR6 CL E G H	10161	15520	OMIM:278150	Hypotrichosis 8	.		8
HP:0011355	HP:0200034	Papule	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0011355	HP:0000991	Xanthomatosis	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3			106
HP:0011355	HP:0200036	Skin nodule	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3			106
HP:0011355	HP:0000991	Xanthomatosis	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0011355	HP:0000987	Atypical scarring of skin	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0011355	HP:0000987	Atypical scarring of skin	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011355	HP:0100276	Skin pit	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent		4
HP:0011355	HP:0200034	Papule	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011355	HP:0200034	Papule	1	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans			4
HP:0011355	HP:0025249	Comedo	1	LRP1 CL E G H	4035	6692	OMIM:604093	Keratosis pilaris atrophicans	.		4
HP:0011355	HP:0010609	Skin tags	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0011355	HP:0003764	Nevus	1	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma			123
HP:0011355	HP:0025104	Capillary malformation	1	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma			123
HP:0011355	HP:0012733	Macule	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011355	HP:0200042	Skin ulcer	1	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent		239
HP:0011355	HP:0003764	Nevus	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011355	HP:0012733	Macule	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011355	HP:0003764	Nevus	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011355	HP:0012733	Macule	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011355	HP:0001053	Hypopigmented skin patches	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1
HP:0011355	HP:0012733	Macule	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0011355	HP:0001053	Hypopigmented skin patches	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0011355	HP:0010609	Skin tags	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0011355	HP:0000987	Atypical scarring of skin	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0011355	HP:0012733	Macule	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011355	HP:0010781	Skin dimple	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia
HP:0011355	HP:0012733	Macule	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011355	HP:0012733	Macule	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011355	HP:0012733	Macule	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011355	HP:0012733	Macule	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011355	HP:0012733	Macule	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0011355	HP:0000987	Atypical scarring of skin	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0011355	HP:0000987	Atypical scarring of skin	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011355	HP:0012733	Macule	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011355	HP:0010781	Skin dimple	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0011355	HP:0012733	Macule	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA			84
HP:0011355	HP:0200034	Papule	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040281 - Very frequent		22
HP:0011355	HP:0000987	Atypical scarring of skin	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0011355	HP:0200042	Skin ulcer	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent		22
HP:0011355	HP:0031057	Skin fissure	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent		22
HP:0011355	HP:0003764	Nevus	1	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		124
HP:0011355	HP:0001053	Hypopigmented skin patches	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		124
HP:0011355	HP:0200036	Skin nodule	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011355	HP:0003764	Nevus	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent		124
HP:0011355	HP:0003764	Nevus	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011355	HP:0200036	Skin nodule	1	MDM2 CL E G H	4193	6973	ORPHA:99971	Well-differentiated liposarcoma			1
HP:0011355	HP:0010781	Skin dimple	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0011355	HP:0100276	Skin pit	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0011355	HP:0012733	Macule	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011355	HP:0010609	Skin tags	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0011355	HP:0010781	Skin dimple	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0011355	HP:0010609	Skin tags	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0011355	HP:0003764	Nevus	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.		43
HP:0011355	HP:0003764	Nevus	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011355	HP:0025104	Capillary malformation	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011355	HP:0200034	Papule	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		281
HP:0011355	HP:0200036	Skin nodule	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0011355	HP:0200042	Skin ulcer	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0011355	HP:0200035	Skin plaque	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0011355	HP:0200034	Papule	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0011355	HP:0200037	Skin vesicle	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional		281
HP:0011355	HP:0200036	Skin nodule	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent		281
HP:0011355	HP:0200042	Skin ulcer	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0011355	HP:0012733	Macule	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011355	HP:0012733	Macule	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011355	HP:0000987	Atypical scarring of skin	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0011355	HP:0003764	Nevus	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0025104	Capillary malformation	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0010781	Skin dimple	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0003764	Nevus	1	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		3
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0011355	HP:0100276	Skin pit	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011355	HP:0100276	Skin pit	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0011355	HP:0003764	Nevus	1	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		91
HP:0011355	HP:0001053	Hypopigmented skin patches	1	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		91
HP:0011355	HP:0012733	Macule	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011355	HP:0200036	Skin nodule	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0011355	HP:0200042	Skin ulcer	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0011355	HP:0003764	Nevus	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0025104	Capillary malformation	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0010781	Skin dimple	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0011355	HP:0000987	Atypical scarring of skin	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011355	HP:0001056	Milia	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		6
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011355	HP:0000987	Atypical scarring of skin	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0011355	HP:0001056	Milia	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0011355	HP:0200036	Skin nodule	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0011355	HP:0200036	Skin nodule	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0011355	HP:0012733	Macule	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0011355	HP:0200036	Skin nodule	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0011355	HP:0012733	Macule	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011355	HP:0200035	Skin plaque	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0011355	HP:0003764	Nevus	1	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0011355	HP:0200042	Skin ulcer	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0011355	HP:0003764	Nevus	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011355	HP:0012733	Macule	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011355	HP:0012733	Macule	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011355	HP:0003764	Nevus	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011355	HP:0010609	Skin tags	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011355	HP:0100276	Skin pit	1	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus			12
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina			45
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina			45
HP:0011355	HP:0025245	Cutaneous cyst	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0011355	HP:0001053	Hypopigmented skin patches	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional		68
HP:0011355	HP:0025104	Capillary malformation	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional		68
HP:0011355	HP:0012733	Macule	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0011355	HP:0012733	Macule	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0011355	HP:0200034	Papule	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040282 - Frequent		150
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MVK CL E G H	4598	7530	ORPHA:735	Porokeratosis of Mibelli	HP:0040281 - Very frequent		150
HP:0011355	HP:0003764	Nevus	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0011355	HP:0003764	Nevus	1	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma			47
HP:0011355	HP:0025104	Capillary malformation	1	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma			47
HP:0011355	HP:0200036	Skin nodule	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0011355	HP:0010609	Skin tags	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0011355	HP:0025104	Capillary malformation	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0011355	HP:0025104	Capillary malformation	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011355	HP:0010781	Skin dimple	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0011355	HP:0200034	Papule	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent		47
HP:0011355	HP:0200036	Skin nodule	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0011355	HP:0200041	Skin erosion	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0011355	HP:0012733	Macule	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011355	HP:0010781	Skin dimple	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0011355	HP:0200042	Skin ulcer	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		13
HP:0011355	HP:0012733	Macule	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		13
HP:0011355	HP:0003764	Nevus	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011355	HP:0025104	Capillary malformation	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011355	HP:0010781	Skin dimple	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0011355	HP:0200042	Skin ulcer	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		67
HP:0011355	HP:0012733	Macule	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		67
HP:0011355	HP:0200042	Skin ulcer	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		37
HP:0011355	HP:0012733	Macule	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		37
HP:0011355	HP:0000987	Atypical scarring of skin	1	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial	.		5
HP:0011355	HP:0001053	Hypopigmented skin patches	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent		3
HP:0011355	HP:0010781	Skin dimple	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0011355	HP:0100276	Skin pit	1	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus			4
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia			30
HP:0011355	HP:0000987	Atypical scarring of skin	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0011355	HP:0003764	Nevus	1	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome			9
HP:0011355	HP:0025104	Capillary malformation	1	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome			9
HP:0011355	HP:0025249	Comedo	1	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040281 - Very frequent		9
HP:0011355	HP:0003764	Nevus	1	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC			9
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011355	HP:0010781	Skin dimple	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011355	HP:0200034	Papule	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0011355	HP:0025104	Capillary malformation	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011355	HP:0012733	Macule	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011355	HP:0012733	Macule	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare		1952
HP:0011355	HP:0012733	Macule	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011355	HP:0012733	Macule	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011355	HP:0012733	Macule	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011355	HP:0012733	Macule	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0011355	HP:0012733	Macule	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011355	HP:0012733	Macule	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011355	HP:0003764	Nevus	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0011355	HP:0200042	Skin ulcer	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0011355	HP:0200042	Skin ulcer	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0011355	HP:0001053	Hypopigmented skin patches	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0011355	HP:0200037	Skin vesicle	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0011355	HP:0200042	Skin ulcer	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0011355	HP:0012733	Macule	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		27
HP:0011355	HP:0100276	Skin pit	1	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0011355	HP:0100276	Skin pit	1	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0011355	HP:0100276	Skin pit	1	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0011355	HP:0000987	Atypical scarring of skin	1	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP			37
HP:0011355	HP:0200034	Papule	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0011355	HP:0200034	Papule	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent		187
HP:0011355	HP:0200034	Papule	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0011355	HP:0200042	Skin ulcer	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0011355	HP:0200042	Skin ulcer	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.		187
HP:0011355	HP:0012733	Macule	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011355	HP:0001053	Hypopigmented skin patches	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0011355	HP:0200037	Skin vesicle	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0011355	HP:0200042	Skin ulcer	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0011355	HP:0012733	Macule	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		17
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		452
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011355	HP:0025104	Capillary malformation	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0011355	HP:0200042	Skin ulcer	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0011355	HP:0200036	Skin nodule	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0011355	HP:0200042	Skin ulcer	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional		144
HP:0011355	HP:0100276	Skin pit	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0011355	HP:0001053	Hypopigmented skin patches	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0011355	HP:0200037	Skin vesicle	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0011355	HP:0200042	Skin ulcer	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0011355	HP:0012733	Macule	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		12
HP:0011355	HP:0000987	Atypical scarring of skin	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0011355	HP:0200042	Skin ulcer	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011355	HP:0003764	Nevus	1	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic			102
HP:0011355	HP:0001053	Hypopigmented skin patches	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		102
HP:0011355	HP:0200036	Skin nodule	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011355	HP:0003764	Nevus	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent		102
HP:0011355	HP:0003764	Nevus	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0011355	HP:0003764	Nevus	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital			102
HP:0011355	HP:0003764	Nevus	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic			102
HP:0011355	HP:0003764	Nevus	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011355	HP:0012733	Macule	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011355	HP:0003764	Nevus	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0011355	HP:0000987	Atypical scarring of skin	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0011355	HP:0010781	Skin dimple	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011355	HP:0100276	Skin pit	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0010609	Skin tags	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0010781	Skin dimple	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0010781	Skin dimple	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0003764	Nevus	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011355	HP:0010609	Skin tags	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.		2
HP:0011355	HP:0010781	Skin dimple	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0011355	HP:0000987	Atypical scarring of skin	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent		97
HP:0011355	HP:0200042	Skin ulcer	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011355	HP:0003764	Nevus	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011355	HP:0025104	Capillary malformation	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011355	HP:0010781	Skin dimple	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0011355	HP:0003764	Nevus	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011355	HP:0200036	Skin nodule	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0011355	HP:0000987	Atypical scarring of skin	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0011355	HP:0200042	Skin ulcer	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0011355	HP:0010609	Skin tags	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011355	HP:0010781	Skin dimple	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0011355	HP:0001056	Milia	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	HP:0003593 - Infantile onset	201
HP:0011355	HP:0001056	Milia	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0011355	HP:0100276	Skin pit	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0011355	HP:0000987	Atypical scarring of skin	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011355	HP:0010781	Skin dimple	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0011355	HP:0010781	Skin dimple	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011355	HP:0200042	Skin ulcer	1	OTULIN CL E G H	90268	25118	OMIM:619986				3
HP:0011355	HP:0200042	Skin ulcer	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0011355	HP:0010781	Skin dimple	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome			231
HP:0011355	HP:0001053	Hypopigmented skin patches	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		1349
HP:0011355	HP:0012733	Macule	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0011355	HP:0012733	Macule	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011355	HP:0001053	Hypopigmented skin patches	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0011355	HP:0200037	Skin vesicle	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0011355	HP:0200042	Skin ulcer	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0011355	HP:0012733	Macule	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		26
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0011355	HP:0100276	Skin pit	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0011355	HP:0100276	Skin pit	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0011355	HP:0001053	Hypopigmented skin patches	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0011355	HP:0001053	Hypopigmented skin patches	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0011355	HP:0000987	Atypical scarring of skin	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011355	HP:0003764	Nevus	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011355	HP:0001053	Hypopigmented skin patches	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0011355	HP:0012733	Macule	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011355	HP:0012733	Macule	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011355	HP:0000991	Xanthomatosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		178
HP:0011355	HP:0000991	Xanthomatosis	1	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3			178
HP:0011355	HP:0200036	Skin nodule	1	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3			178
HP:0011355	HP:0200036	Skin nodule	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011355	HP:0003764	Nevus	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent		13
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011355	HP:0012733	Macule	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011355	HP:0003764	Nevus	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0011355	HP:0000987	Atypical scarring of skin	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0011355	HP:0000987	Atypical scarring of skin	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0011355	HP:0000987	Atypical scarring of skin	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011355	HP:0200036	Skin nodule	1	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans			9
HP:0011355	HP:0200042	Skin ulcer	1	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040282 - Frequent		9
HP:0011355	HP:0200036	Skin nodule	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0011355	HP:0200042	Skin ulcer	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional		28
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0011355	HP:0012733	Macule	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011355	HP:0200034	Papule	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent		66
HP:0011355	HP:0200042	Skin ulcer	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0011355	HP:0200042	Skin ulcer	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent		66
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent		66
HP:0011355	HP:0200042	Skin ulcer	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent
HP:0011355	HP:0031057	Skin fissure	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent
HP:0011355	HP:0200042	Skin ulcer	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0011355	HP:0012733	Macule	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011355	HP:0012733	Macule	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011355	HP:0200034	Papule	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011355	HP:0010781	Skin dimple	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011355	HP:0200042	Skin ulcer	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional		36
HP:0011355	HP:0012733	Macule	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011355	HP:0010609	Skin tags	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011355	HP:0025104	Capillary malformation	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	.		162
HP:0011355	HP:0001053	Hypopigmented skin patches	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0011355	HP:0200034	Papule	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		162
HP:0011355	HP:0200036	Skin nodule	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011355	HP:0003764	Nevus	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011355	HP:0012733	Macule	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		162
HP:0011355	HP:0010609	Skin tags	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0011355	HP:0003764	Nevus	1	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic			162
HP:0011355	HP:0003764	Nevus	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional		162
HP:0011355	HP:0003764	Nevus	1	PIK3CA CL E G H	5290	8975	OMIM:182000	KERATOSIS, SEBORRHEIC			162
HP:0011355	HP:0003764	Nevus	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0011355	HP:0025104	Capillary malformation	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0011355	HP:0012733	Macule	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0011355	HP:0012733	Macule	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011355	HP:0100276	Skin pit	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0011355	HP:0010609	Skin tags	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome			82
HP:0011355	HP:0200042	Skin ulcer	1	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent		759
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita			759
HP:0011355	HP:0000987	Atypical scarring of skin	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0011355	HP:0001056	Milia	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0011355	HP:0200034	Papule	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040282 - Frequent		759
HP:0011355	HP:0200037	Skin vesicle	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040282 - Frequent		759
HP:0011355	HP:0000987	Atypical scarring of skin	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011355	HP:0001056	Milia	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0011355	HP:0200041	Skin erosion	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent		759
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011355	HP:0000987	Atypical scarring of skin	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0011355	HP:0001056	Milia	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0011355	HP:0200041	Skin erosion	1	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent		759
HP:0011355	HP:0012733	Macule	1	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement			759
HP:0011355	HP:0000993	Molluscoid pseudotumors	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0011355	HP:0000987	Atypical scarring of skin	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent		105
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0011355	HP:0003764	Nevus	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0011355	HP:0025104	Capillary malformation	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0011355	HP:0012733	Macule	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0011355	HP:0012733	Macule	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PMVK CL E G H	10654	9141	ORPHA:735	Porokeratosis of Mibelli	HP:0040281 - Very frequent		3
HP:0011355	HP:0100276	Skin pit	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0200034	Papule	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0200037	Skin vesicle	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		2
HP:0011355	HP:0025245	Cutaneous cyst	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0012733	Macule	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0200034	Papule	1	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2			2
HP:0011355	HP:0012733	Macule	1	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2			2
HP:0011355	HP:0100276	Skin pit	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease			6
HP:0011355	HP:0200034	Papule	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease			6
HP:0011355	HP:0200037	Skin vesicle	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		6
HP:0011355	HP:0025245	Cutaneous cyst	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease			6
HP:0011355	HP:0012733	Macule	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease			6
HP:0011355	HP:0010781	Skin dimple	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant			155
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type			155
HP:0011355	HP:0010609	Skin tags	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011355	HP:0010609	Skin tags	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0011355	HP:0100276	Skin pit	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0011355	HP:0010609	Skin tags	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0011355	HP:0000987	Atypical scarring of skin	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0011355	HP:0200036	Skin nodule	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0011355	HP:0025528	Annular cutaneous lesion	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0011355	HP:0200036	Skin nodule	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011355	HP:0012733	Macule	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0011355	HP:0003764	Nevus	1	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		23
HP:0011355	HP:0000991	Xanthomatosis	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent		42
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent		42
HP:0011355	HP:0001056	Milia	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional		41
HP:0011355	HP:0200037	Skin vesicle	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent		41
HP:0011355	HP:0200041	Skin erosion	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent		41
HP:0011355	HP:0100276	Skin pit	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011355	HP:0012733	Macule	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011355	HP:0000991	Xanthomatosis	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1			2
HP:0011355	HP:0200036	Skin nodule	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1			2
HP:0011355	HP:0000987	Atypical scarring of skin	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0011355	HP:0012733	Macule	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011355	HP:0003764	Nevus	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0011355	HP:0003764	Nevus	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0011355	HP:0200036	Skin nodule	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011355	HP:0003764	Nevus	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent		134
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011355	HP:0012733	Macule	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011355	HP:0003764	Nevus	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.		134
HP:0011355	HP:0012733	Macule	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011355	HP:0012733	Macule	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011355	HP:0012733	Macule	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia			7
HP:0011355	HP:0010609	Skin tags	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040282 - Frequent		65
HP:0011355	HP:0000987	Atypical scarring of skin	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0011355	HP:0200042	Skin ulcer	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040283 - Occasional		75
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent		75
HP:0011355	HP:0000987	Atypical scarring of skin	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0011355	HP:0000987	Atypical scarring of skin	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0011355	HP:0000987	Atypical scarring of skin	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0011355	HP:0000987	Atypical scarring of skin	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0011355	HP:0000987	Atypical scarring of skin	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0011355	HP:0000987	Atypical scarring of skin	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0011355	HP:0010781	Skin dimple	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011355	HP:0200034	Papule	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0011355	HP:0200042	Skin ulcer	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0011355	HP:0001053	Hypopigmented skin patches	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare		81
HP:0011355	HP:0100276	Skin pit	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0200034	Papule	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0200037	Skin vesicle	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		2
HP:0011355	HP:0025245	Cutaneous cyst	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0012733	Macule	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease			2
HP:0011355	HP:0200035	Skin plaque	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0011355	HP:0010781	Skin dimple	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0011355	HP:0200042	Skin ulcer	1	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040281 - Very frequent		96
HP:0011355	HP:0200042	Skin ulcer	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0011355	HP:0001056	Milia	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011355	HP:0100276	Skin pit	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011355	HP:0010609	Skin tags	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011355	HP:0100276	Skin pit	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0011355	HP:0003764	Nevus	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0011355	HP:0100276	Skin pit	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0011355	HP:0001056	Milia	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011355	HP:0100276	Skin pit	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011355	HP:0010609	Skin tags	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011355	HP:0100276	Skin pit	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0011355	HP:0003764	Nevus	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0011355	HP:0200036	Skin nodule	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0011355	HP:0003764	Nevus	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent		948
HP:0011355	HP:0012733	Macule	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0011355	HP:0001053	Hypopigmented skin patches	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0011355	HP:0200034	Papule	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		948
HP:0011355	HP:0200036	Skin nodule	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011355	HP:0003764	Nevus	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011355	HP:0012733	Macule	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		948
HP:0011355	HP:0200036	Skin nodule	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1			948
HP:0011355	HP:0010609	Skin tags	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0011355	HP:0200034	Papule	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040281 - Very frequent		948
HP:0011355	HP:0200036	Skin nodule	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0011355	HP:0200036	Skin nodule	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011355	HP:0003764	Nevus	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011355	HP:0012733	Macule	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011355	HP:0003764	Nevus	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0011355	HP:0200034	Papule	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent		948
HP:0011355	HP:0200036	Skin nodule	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome			948
HP:0011355	HP:0200036	Skin nodule	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease			58
HP:0011355	HP:0200042	Skin ulcer	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional		58
HP:0011355	HP:0012733	Macule	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0011355	HP:0003764	Nevus	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011355	HP:0012733	Macule	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011355	HP:0200036	Skin nodule	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011355	HP:0003764	Nevus	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011355	HP:0012733	Macule	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011355	HP:0200042	Skin ulcer	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0011355	HP:0200034	Papule	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0011355	HP:0200042	Skin ulcer	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0011355	HP:0001053	Hypopigmented skin patches	1	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent		3
HP:0011355	HP:0003764	Nevus	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011355	HP:0025104	Capillary malformation	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011355	HP:0010609	Skin tags	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0011355	HP:0003764	Nevus	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011355	HP:0025104	Capillary malformation	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0011355	HP:0003764	Nevus	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0011355	HP:0100276	Skin pit	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011355	HP:0010781	Skin dimple	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011355	HP:0001053	Hypopigmented skin patches	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		9
HP:0011355	HP:0012733	Macule	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0011355	HP:0001053	Hypopigmented skin patches	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		391
HP:0011355	HP:0012733	Macule	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0011355	HP:0012733	Macule	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0011355	HP:0003764	Nevus	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011355	HP:0003764	Nevus	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011355	HP:0012733	Macule	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011355	HP:0200036	Skin nodule	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011355	HP:0003764	Nevus	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011355	HP:0012733	Macule	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011355	HP:0025104	Capillary malformation	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040281 - Very frequent		88
HP:0011355	HP:0012733	Macule	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional		88
HP:0011355	HP:0025104	Capillary malformation	1	RASA1 CL E G H	5921	9871	OMIM:608354	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1			88
HP:0011355	HP:0200035	Skin plaque	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0011355	HP:0200042	Skin ulcer	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0011355	HP:0025104	Capillary malformation	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent		88
HP:0011355	HP:0003764	Nevus	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011355	HP:0012733	Macule	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0011355	HP:0003764	Nevus	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome			1
HP:0011355	HP:0003764	Nevus	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0011355	HP:0003764	Nevus	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011355	HP:0003764	Nevus	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0011355	HP:0025104	Capillary malformation	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0011355	HP:0025104	Capillary malformation	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011355	HP:0000987	Atypical scarring of skin	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		3
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3			3
HP:0011355	HP:0000987	Atypical scarring of skin	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011355	HP:0000987	Atypical scarring of skin	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0011355	HP:0012733	Macule	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0011355	HP:0012733	Macule	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011355	HP:0012733	Macule	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA			572
HP:0011355	HP:0200042	Skin ulcer	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0011355	HP:0200042	Skin ulcer	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0011355	HP:0012733	Macule	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0011355	HP:0003764	Nevus	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0011355	HP:0001053	Hypopigmented skin patches	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0011355	HP:0012733	Macule	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011355	HP:0000987	Atypical scarring of skin	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0011355	HP:0000987	Atypical scarring of skin	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0011355	HP:0000987	Atypical scarring of skin	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011355	HP:0100276	Skin pit	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome			69
HP:0011355	HP:0100276	Skin pit	1	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS			69
HP:0011355	HP:0010609	Skin tags	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0011355	HP:0003764	Nevus	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011355	HP:0000987	Atypical scarring of skin	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0011355	HP:0010781	Skin dimple	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0011355	HP:0000987	Atypical scarring of skin	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0011355	HP:0003764	Nevus	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011355	HP:0025104	Capillary malformation	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011355	HP:0010781	Skin dimple	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0011355	HP:0003764	Nevus	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011355	HP:0025104	Capillary malformation	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0011355	HP:0000987	Atypical scarring of skin	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0011355	HP:0000987	Atypical scarring of skin	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0011355	HP:0000987	Atypical scarring of skin	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0011355	HP:0000987	Atypical scarring of skin	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0011355	HP:0000987	Atypical scarring of skin	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0011355	HP:0000987	Atypical scarring of skin	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0011355	HP:0010781	Skin dimple	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0011355	HP:0003764	Nevus	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011355	HP:0003764	Nevus	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011355	HP:0001053	Hypopigmented skin patches	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011355	HP:0001053	Hypopigmented skin patches	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0011355	HP:0200037	Skin vesicle	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0011355	HP:0200042	Skin ulcer	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0011355	HP:0012733	Macule	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		77
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0011355	HP:0000987	Atypical scarring of skin	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0011355	HP:0200036	Skin nodule	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0011355	HP:0010609	Skin tags	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0011355	HP:0100276	Skin pit	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0011355	HP:0010609	Skin tags	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0011355	HP:0010609	Skin tags	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0011355	HP:0012733	Macule	1	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011355	HP:0200042	Skin ulcer	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0011355	HP:0000987	Atypical scarring of skin	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0011355	HP:0010781	Skin dimple	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0011355	HP:0200042	Skin ulcer	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0011355	HP:0010781	Skin dimple	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0011355	HP:0200034	Papule	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		237
HP:0011355	HP:0200036	Skin nodule	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011355	HP:0003764	Nevus	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011355	HP:0012733	Macule	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		237
HP:0011355	HP:0012733	Macule	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA			237
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0011355	HP:0200034	Papule	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		147
HP:0011355	HP:0200036	Skin nodule	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011355	HP:0003764	Nevus	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011355	HP:0012733	Macule	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		147
HP:0011355	HP:0200035	Skin plaque	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0011355	HP:0200034	Papule	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		129
HP:0011355	HP:0200036	Skin nodule	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011355	HP:0003764	Nevus	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011355	HP:0012733	Macule	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		129
HP:0011355	HP:0012733	Macule	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA			129
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0011355	HP:0200034	Papule	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		60
HP:0011355	HP:0200036	Skin nodule	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011355	HP:0003764	Nevus	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011355	HP:0012733	Macule	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		60
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011355	HP:0010609	Skin tags	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011355	HP:0000987	Atypical scarring of skin	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0011355	HP:0010609	Skin tags	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0011355	HP:0012733	Macule	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011355	HP:0012733	Macule	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0011355	HP:0003764	Nevus	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011355	HP:0025104	Capillary malformation	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011355	HP:0010781	Skin dimple	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011355	HP:0010609	Skin tags	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0011355	HP:0010609	Skin tags	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0011355	HP:0012733	Macule	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011355	HP:0010781	Skin dimple	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0011355	HP:0010781	Skin dimple	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011355	HP:0012733	Macule	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011355	HP:0010609	Skin tags	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0011355	HP:0100276	Skin pit	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0011355	HP:0010609	Skin tags	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0011355	HP:0100276	Skin pit	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0011355	HP:0010609	Skin tags	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0011355	HP:0100276	Skin pit	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0011355	HP:0010609	Skin tags	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0011355	HP:0100276	Skin pit	1	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0011355	HP:0010609	Skin tags	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0011355	HP:0010609	Skin tags	1	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2			10
HP:0011355	HP:0012733	Macule	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0011355	HP:0012733	Macule	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011355	HP:0012733	Macule	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011355	HP:0012733	Macule	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011355	HP:0200034	Papule	1	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type	.		3
HP:0011355	HP:0003764	Nevus	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011355	HP:0003764	Nevus	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0011355	HP:0025104	Capillary malformation	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040282 - Frequent		68
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0011355	HP:0200037	Skin vesicle	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0011355	HP:0000991	Xanthomatosis	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0011355	HP:0200036	Skin nodule	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0011355	HP:0000991	Xanthomatosis	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0011355	HP:0200036	Skin nodule	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0011355	HP:0000991	Xanthomatosis	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0011355	HP:0200036	Skin nodule	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0011355	HP:0000987	Atypical scarring of skin	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0011355	HP:0200042	Skin ulcer	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent		55
HP:0011355	HP:0003764	Nevus	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040284 - Very rare		42
HP:0011355	HP:0200042	Skin ulcer	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		109
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional		12
HP:0011355	HP:0000987	Atypical scarring of skin	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0011355	HP:0031452	Lichenoid skin lesion	1	SLURP1 CL E G H	57152	18746	ORPHA:87503	Mal de Meleda			15
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		274
HP:0011355	HP:0012733	Macule	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0011355	HP:0012733	Macule	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0011355	HP:0000987	Atypical scarring of skin	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0011355	HP:0000987	Atypical scarring of skin	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0011355	HP:0010609	Skin tags	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011355	HP:0012733	Macule	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011355	HP:0001056	Milia	1	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040281 - Very frequent		6
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0011355	HP:0001056	Milia	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0011355	HP:0012733	Macule	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SMARCAD1 CL E G H	56916	18398	ORPHA:384	Huriez syndrome	HP:0040281 - Very frequent		6
HP:0011355	HP:0012733	Macule	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0011355	HP:0012733	Macule	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0011355	HP:0003764	Nevus	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011355	HP:0025104	Capillary malformation	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011355	HP:0010781	Skin dimple	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040281 - Very frequent		22
HP:0011355	HP:0100276	Skin pit	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011355	HP:0003764	Nevus	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040282 - Frequent		22
HP:0011355	HP:0000991	Xanthomatosis	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040282 - Frequent		19
HP:0011355	HP:0012733	Macule	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040282 - Frequent		19
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		19
HP:0011355	HP:0000987	Atypical scarring of skin	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0011355	HP:0010609	Skin tags	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011355	HP:0003764	Nevus	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011355	HP:0003764	Nevus	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent		61
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		61
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0011355	HP:0012733	Macule	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011355	HP:0001053	Hypopigmented skin patches	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.		61
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0011355	HP:0010781	Skin dimple	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent		109
HP:0011355	HP:0010781	Skin dimple	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011355	HP:0000987	Atypical scarring of skin	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0011355	HP:0100276	Skin pit	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011355	HP:0012733	Macule	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011355	HP:0100276	Skin pit	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011355	HP:0012733	Macule	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011355	HP:0010781	Skin dimple	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011355	HP:0000991	Xanthomatosis	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0200036	Skin nodule	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0012733	Macule	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0012733	Macule	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011355	HP:0003764	Nevus	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011355	HP:0200042	Skin ulcer	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		228
HP:0011355	HP:0200042	Skin ulcer	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040284 - Very rare		156
HP:0011355	HP:0003764	Nevus	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011355	HP:0200042	Skin ulcer	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		54
HP:0011355	HP:0200042	Skin ulcer	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0011355	HP:0200042	Skin ulcer	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		149
HP:0011355	HP:0200042	Skin ulcer	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	.		149
HP:0011355	HP:0200042	Skin ulcer	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0011355	HP:0012733	Macule	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0011355	HP:0100276	Skin pit	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011355	HP:0010609	Skin tags	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011355	HP:0200034	Papule	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent		110
HP:0011355	HP:0200037	Skin vesicle	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040283 - Occasional		110
HP:0011355	HP:0200042	Skin ulcer	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040281 - Very frequent		110
HP:0011355	HP:0200034	Papule	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0011355	HP:0200036	Skin nodule	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0011355	HP:0012733	Macule	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0011355	HP:0012733	Macule	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0011355	HP:0003764	Nevus	1	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant			740
HP:0011355	HP:0012733	Macule	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040281 - Very frequent		740
HP:0011355	HP:0012733	Macule	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0011355	HP:0003764	Nevus	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0011355	HP:0001056	Milia	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011355	HP:0100276	Skin pit	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011355	HP:0010609	Skin tags	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011355	HP:0100276	Skin pit	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0011355	HP:0003764	Nevus	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0011355	HP:0010781	Skin dimple	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0011355	HP:0003764	Nevus	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0011355	HP:0010609	Skin tags	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011355	HP:0012733	Macule	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011355	HP:0100276	Skin pit	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0011355	HP:0025245	Cutaneous cyst	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011355	HP:0010781	Skin dimple	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011355	HP:0200042	Skin ulcer	1	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.		5
HP:0011355	HP:0200042	Skin ulcer	1	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.		17
HP:0011355	HP:0200042	Skin ulcer	1	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.		3
HP:0011355	HP:0003764	Nevus	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011355	HP:0010609	Skin tags	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011355	HP:0003764	Nevus	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0011355	HP:0100276	Skin pit	1	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0011355	HP:0100276	Skin pit	1	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0011355	HP:0010781	Skin dimple	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0011355	HP:0010781	Skin dimple	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional		241
HP:0011355	HP:0010781	Skin dimple	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011355	HP:0200042	Skin ulcer	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040282 - Frequent		82
HP:0011355	HP:0010609	Skin tags	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0011355	HP:0010609	Skin tags	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0011355	HP:0200036	Skin nodule	1	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus			78
HP:0011355	HP:0003764	Nevus	1	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma			78
HP:0011355	HP:0025104	Capillary malformation	1	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma			78
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0011355	HP:0200037	Skin vesicle	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0011355	HP:0200042	Skin ulcer	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0011355	HP:0012733	Macule	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		48
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0011355	HP:0003764	Nevus	1	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0011355	HP:0200037	Skin vesicle	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0011355	HP:0200042	Skin ulcer	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0011355	HP:0012733	Macule	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		238
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0011355	HP:0003764	Nevus	1	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma	HP:0040281 - Very frequent		238
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0011355	HP:0000987	Atypical scarring of skin	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent		12
HP:0011355	HP:0100276	Skin pit	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011355	HP:0000987	Atypical scarring of skin	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011355	HP:0100276	Skin pit	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011355	HP:0025245	Cutaneous cyst	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0011355	HP:0003764	Nevus	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0011355	HP:0025104	Capillary malformation	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0011355	HP:0000987	Atypical scarring of skin	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0011355	HP:0000987	Atypical scarring of skin	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0011355	HP:0200034	Papule	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional		44
HP:0011355	HP:0200041	Skin erosion	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional		44
HP:0011355	HP:0012733	Macule	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional		44
HP:0011355	HP:0003764	Nevus	1	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0011355	HP:0200037	Skin vesicle	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0011355	HP:0200042	Skin ulcer	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0011355	HP:0012733	Macule	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		60
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0011355	HP:0200034	Papule	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		3
HP:0011355	HP:0200036	Skin nodule	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent		10
HP:0011355	HP:0200035	Skin plaque	1	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent		10
HP:0011355	HP:0200034	Papule	1	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent		10
HP:0011355	HP:0012733	Macule	1	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis			10
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent		4
HP:0011355	HP:0200035	Skin plaque	1	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent		4
HP:0011355	HP:0200034	Papule	1	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040281 - Very frequent		4
HP:0011355	HP:0012733	Macule	1	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis			4
HP:0011355	HP:0010781	Skin dimple	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0011355	HP:0012733	Macule	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA			131
HP:0011355	HP:0010609	Skin tags	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0011355	HP:0003764	Nevus	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia			5
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040282 - Frequent		72
HP:0011355	HP:0200036	Skin nodule	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0011355	HP:0003764	Nevus	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0011355	HP:0200036	Skin nodule	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0011355	HP:0003764	Nevus	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0011355	HP:0012733	Macule	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent		131
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0011355	HP:0200035	Skin plaque	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040281 - Very frequent
HP:0011355	HP:0200042	Skin ulcer	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1			134
HP:0011355	HP:0012733	Macule	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0011355	HP:0000987	Atypical scarring of skin	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0011355	HP:0200042	Skin ulcer	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011355	HP:0200042	Skin ulcer	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent		140
HP:0011355	HP:0003764	Nevus	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome			140
HP:0011355	HP:0100276	Skin pit	1	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome			140
HP:0011355	HP:0100276	Skin pit	1	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus			140
HP:0011355	HP:0003764	Nevus	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional		140
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent		140
HP:0011355	HP:0012733	Macule	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0011355	HP:0200034	Papule	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040282 - Frequent		4
HP:0011355	HP:0200042	Skin ulcer	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040281 - Very frequent		4
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0011355	HP:0200042	Skin ulcer	1	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1	.		56
HP:0011355	HP:0003764	Nevus	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011355	HP:0025104	Capillary malformation	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011355	HP:0012733	Macule	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011355	HP:0012733	Macule	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0011355	HP:0200035	Skin plaque	1	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6			124
HP:0011355	HP:0200035	Skin plaque	1	TRPM4 CL E G H	54795	17993	ORPHA:316	Progressive symmetric erythrokeratodermia	HP:0040281 - Very frequent		124
HP:0011355	HP:0200042	Skin ulcer	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040282 - Frequent		151
HP:0011355	HP:0031057	Skin fissure	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040281 - Very frequent		151
HP:0011355	HP:0003764	Nevus	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011355	HP:0012733	Macule	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0011355	HP:0200035	Skin plaque	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0011355	HP:0003764	Nevus	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011355	HP:0025245	Cutaneous cyst	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011355	HP:0012733	Macule	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011355	HP:0200036	Skin nodule	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011355	HP:0003764	Nevus	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011355	HP:0012733	Macule	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011355	HP:0003764	Nevus	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011355	HP:0012733	Macule	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0011355	HP:0200035	Skin plaque	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0011355	HP:0003764	Nevus	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011355	HP:0025245	Cutaneous cyst	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011355	HP:0012733	Macule	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011355	HP:0200036	Skin nodule	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011355	HP:0003764	Nevus	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011355	HP:0012733	Macule	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011355	HP:0000987	Atypical scarring of skin	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0011355	HP:0000991	Xanthomatosis	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011355	HP:0200036	Skin nodule	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011355	HP:0000987	Atypical scarring of skin	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0011355	HP:0000987	Atypical scarring of skin	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome			7
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent		7
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040283 - Occasional		7
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent		7
HP:0011355	HP:0012733	Macule	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011355	HP:0010609	Skin tags	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0011355	HP:0200037	Skin vesicle	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0011355	HP:0200042	Skin ulcer	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0011355	HP:0012733	Macule	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		1
HP:0011355	HP:0003764	Nevus	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0011355	HP:0001053	Hypopigmented skin patches	1	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent		146
HP:0011355	HP:0003764	Nevus	1	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3			62
HP:0011355	HP:0200035	Skin plaque	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011355	HP:0200042	Skin ulcer	1	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040282 - Frequent
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0011355	HP:0200034	Papule	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0200036	Skin nodule	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0011355	HP:0001053	Hypopigmented skin patches	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011355	HP:0100276	Skin pit	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011355	HP:0001053	Hypopigmented skin patches	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		2
HP:0011355	HP:0012733	Macule	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011355	HP:0010609	Skin tags	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011355	HP:0010609	Skin tags	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0011355	HP:0012733	Macule	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011355	HP:0012733	Macule	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011355	HP:0001053	Hypopigmented skin patches	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000987	Atypical scarring of skin	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0011355	HP:0200041	Skin erosion	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent		31
HP:0011355	HP:0000987	Atypical scarring of skin	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0011355	HP:0200041	Skin erosion	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent		41
HP:0011355	HP:0000987	Atypical scarring of skin	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0011355	HP:0001053	Hypopigmented skin patches	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0011355	HP:0200037	Skin vesicle	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0011355	HP:0200042	Skin ulcer	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0011355	HP:0012733	Macule	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		8
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011355	HP:0001053	Hypopigmented skin patches	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0200034	Papule	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		1
HP:0011355	HP:0200036	Skin nodule	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0003764	Nevus	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0012733	Macule	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent		1
HP:0011355	HP:0000987	Atypical scarring of skin	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0011355	HP:0200042	Skin ulcer	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011355	HP:0200042	Skin ulcer	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0011355	HP:0010781	Skin dimple	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011355	HP:0010781	Skin dimple	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0011355	HP:0010781	Skin dimple	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0011355	HP:0025245	Cutaneous cyst	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0011355	HP:0010781	Skin dimple	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0011355	HP:0012733	Macule	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA			490
HP:0011355	HP:0010609	Skin tags	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011355	HP:0003764	Nevus	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011355	HP:0025104	Capillary malformation	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011355	HP:0010781	Skin dimple	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0011355	HP:0200042	Skin ulcer	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		65
HP:0011355	HP:0012733	Macule	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011355	HP:0010609	Skin tags	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011355	HP:0100276	Skin pit	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011355	HP:0010609	Skin tags	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011355	HP:0012733	Macule	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011355	HP:0200042	Skin ulcer	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011355	HP:0200042	Skin ulcer	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		6
HP:0011355	HP:0010609	Skin tags	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011355	HP:0010781	Skin dimple	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011355	HP:0200042	Skin ulcer	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011355	HP:0003764	Nevus	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011355	HP:0025104	Capillary malformation	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011355	HP:0010781	Skin dimple	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011355	HP:0003764	Nevus	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011355	HP:0025104	Capillary malformation	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011355	HP:0010781	Skin dimple	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011355	HP:0001053	Hypopigmented skin patches	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0011355	HP:0200037	Skin vesicle	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0011355	HP:0200042	Skin ulcer	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0011355	HP:0012733	Macule	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		40
HP:0011355	HP:0200042	Skin ulcer	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent		310
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent		310
HP:0011355	HP:0001053	Hypopigmented skin patches	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		34
HP:0011355	HP:0003764	Nevus	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0011355	HP:0012733	Macule	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		34
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0011355	HP:0001053	Hypopigmented skin patches	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		86
HP:0011355	HP:0003764	Nevus	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0011355	HP:0012733	Macule	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		86
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C			86
HP:0011355	HP:0001053	Hypopigmented skin patches	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent		125
HP:0011355	HP:0012733	Macule	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0011355	HP:0200034	Papule	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0011355	HP:0200034	Papule	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0011355	HP:0100276	Skin pit	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011355	HP:0010781	Skin dimple	1	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome			14
HP:0011355	HP:0012733	Macule	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0011355	HP:0100276	Skin pit	1	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0011355	HP:0100276	Skin pit	1	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0011355	HP:0010781	Skin dimple	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0011355	HP:0200034	Papule	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011355	HP:0012733	Macule	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0011355	HP:0200041	Skin erosion	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0011355	HP:0200041	Skin erosion	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011355	HP:0000987	Atypical scarring of skin	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0011355	HP:0100276	Skin pit	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011355	HP:0000987	Atypical scarring of skin	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0011355	HP:0000993	Molluscoid pseudotumors	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0011355	HP:0000987	Atypical scarring of skin	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0011355	HP:0010781	Skin dimple	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011355	HP:0008065	Aplasia/Hypoplasia of the skin	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0011355	HP:0025245	Cutaneous cyst	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0011355	HP:0005593	Macular hypopigmented whorls, streaks, and patches	2	CL E G H
HP:0011355	HP:0009920	Nevus of Ota	2	CL E G H
HP:0011355	HP:0012399	Pressure ulcer	2	CL E G H
HP:0011355	HP:0025103	Umbilicated nodule	2	CL E G H
HP:0011355	HP:0025106	Nevus roseus	2	CL E G H
HP:0011355	HP:0025108	Angioma serpentinum	2	CL E G H
HP:0011355	HP:0025246	Trichilemmal cyst	2	CL E G H
HP:0011355	HP:0025250	Closed comedo	2	CL E G H
HP:0011355	HP:0025251	Open comedo	2	CL E G H
HP:0011355	HP:0025471	Congenital panfollicular nevus	2	CL E G H
HP:0011355	HP:0025508	Gottron's papules	2	CL E G H
HP:0011355	HP:0025511	Nevus sebaceus	2	CL E G H
HP:0011355	HP:0025529	Hyperpigmented nodule	2	CL E G H
HP:0011355	HP:0025530	Xanthomas of the palmar creases	2	CL E G H
HP:0011355	HP:0025554	Yellow nodule	2	CL E G H
HP:0011355	HP:0031359	Cutaneous sclerotic plaque	2	CL E G H
HP:0011355	HP:0031360	Yellow skin plaque	2	CL E G H
HP:0011355	HP:0031448	Herpetiform vesicles	2	CL E G H
HP:0011355	HP:0031517	Verruciform xanthoma	2	CL E G H
HP:0011355	HP:0032217	Indurated nodule	2	CL E G H
HP:0011355	HP:0040251	Hand dimple	2	CL E G H
HP:0011355	HP:0045059	Hyperkeratotic papule	2	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent		7
HP:0011355	HP:0012500	Verrucous papule	2	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional		7
HP:0011355	HP:0001114	Xanthelasma	2	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency			191
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency			191
HP:0011355	HP:0001034	Hypermelanotic macule	2	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent		20
HP:0011355	HP:0005590	Spotty hypopigmentation	2	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent		20
HP:0011355	HP:0001034	Hypermelanotic macule	2	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3			20
HP:0011355	HP:0020073	Hypopigmented macule	2	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3			20
HP:0011355	HP:0001482	Subcutaneous nodule	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0011355	HP:0004334	Dermal atrophy	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0011355	HP:0025507	Yellow papule	2	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0011355	HP:0025507	Yellow papule	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0011355	HP:0001034	Hypermelanotic macule	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0011355	HP:0005590	Spotty hypopigmentation	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0011355	HP:0010874	Tendon xanthomatosis	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		67
HP:0011355	HP:0010874	Tendon xanthomatosis	2	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2			67
HP:0011355	HP:0010874	Tendon xanthomatosis	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		76
HP:0011355	HP:0001114	Xanthelasma	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0011355	HP:0031290	Tuberous xanthoma	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0011355	HP:0000963	Thin skin	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.		51
HP:0011355	HP:0004334	Dermal atrophy	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		11
HP:0011355	HP:0001034	Hypermelanotic macule	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.		16
HP:0011355	HP:0007526	Hypopigmented skin patches on arms	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.		16
HP:0011355	HP:0001034	Hypermelanotic macule	2	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent		72
HP:0011355	HP:0001482	Subcutaneous nodule	2	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent		49
HP:0011355	HP:0001075	Atrophic scars	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011355	HP:0004334	Dermal atrophy	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011355	HP:0030351	Urticarial plaque	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011355	HP:0000963	Thin skin	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0011355	HP:0000963	Thin skin	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0011355	HP:0007441	Hyperpigmented/hypopigmented macules	2	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1	.		116
HP:0011355	HP:0000960	Sacral dimple	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0011355	HP:0001075	Atrophic scars	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011355	HP:0004334	Dermal atrophy	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011355	HP:0025509	Piezogenic pedal papules	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0011355	HP:0001075	Atrophic scars	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0011355	HP:0004334	Dermal atrophy	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011355	HP:0000960	Sacral dimple	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0011355	HP:0000963	Thin skin	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0011355	HP:0004334	Dermal atrophy	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0011355	HP:0000995	Melanocytic nevus	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0011355	HP:0001034	Hypermelanotic macule	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011355	HP:0001482	Subcutaneous nodule	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		54
HP:0011355	HP:0000995	Melanocytic nevus	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0011355	HP:0001034	Hypermelanotic macule	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011355	HP:0001482	Subcutaneous nodule	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0011355	HP:0010816	Epidermal nevus	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		54
HP:0011355	HP:0010816	Epidermal nevus	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0011355	HP:0000963	Thin skin	2	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0011355	HP:0001024	Skin dimple over apex of long bone angulation	2	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.		126
HP:0011355	HP:0001024	Skin dimple over apex of long bone angulation	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0011355	HP:0000384	Preauricular skin tag	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent		5
HP:0011355	HP:0000384	Preauricular skin tag	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0011355	HP:0000384	Preauricular skin tag	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0011355	HP:0025247	Dermoid cyst	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent		9
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina			132
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2			132
HP:0011355	HP:0004334	Dermal atrophy	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent		2
HP:0011355	HP:0001034	Hypermelanotic macule	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011355	HP:0000960	Sacral dimple	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional		150
HP:0011355	HP:0100277	Periauricular skin pits	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0011355	HP:0000384	Preauricular skin tag	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0011355	HP:0200040	Epidermoid cyst	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0011355	HP:0001482	Subcutaneous nodule	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0011355	HP:0001482	Subcutaneous nodule	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0011355	HP:0001482	Subcutaneous nodule	2	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040281 - Very frequent		49
HP:0011355	HP:0200040	Epidermoid cyst	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0011355	HP:0010562	Keloids	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.		3179
HP:0011355	HP:0200040	Epidermoid cyst	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0011355	HP:0001482	Subcutaneous nodule	2	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		3179
HP:0011355	HP:0200040	Epidermoid cyst	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0011355	HP:0200040	Epidermoid cyst	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional		3179
HP:0011355	HP:0010562	Keloids	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional		3179
HP:0011355	HP:0001034	Hypermelanotic macule	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0011355	HP:0200040	Epidermoid cyst	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040282 - Frequent		3179
HP:0011355	HP:0001114	Xanthelasma	2	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency			40
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency			40
HP:0011355	HP:0010874	Tendon xanthomatosis	2	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2			40
HP:0011355	HP:0001114	Xanthelasma	2	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1			9
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1			9
HP:0011355	HP:0010874	Tendon xanthomatosis	2	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1			9
HP:0011355	HP:0001039	Atheroeruptive xanthoma	2	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.		7
HP:0011355	HP:0010874	Tendon xanthomatosis	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		356
HP:0011355	HP:0001114	Xanthelasma	2	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2	.		356
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2			356
HP:0011355	HP:0001013	Eruptive xanthomas	2	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0011355	HP:0001114	Xanthelasma	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0011355	HP:0010874	Tendon xanthomatosis	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0011355	HP:0001482	Subcutaneous nodule	2	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent		39
HP:0011355	HP:0000963	Thin skin	2	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0011355	HP:0000963	Thin skin	2	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		179
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		147
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011355	HP:0000384	Preauricular skin tag	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011355	HP:0000960	Sacral dimple	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011355	HP:0001034	Hypermelanotic macule	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0011355	HP:0100814	Blue nevus	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		1
HP:0011355	HP:0004334	Dermal atrophy	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011355	HP:0001482	Subcutaneous nodule	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0011355	HP:0001482	Subcutaneous nodule	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0011355	HP:0000960	Sacral dimple	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0011355	HP:0001052	Nevus flammeus	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040281 - Very frequent		145
HP:0011355	HP:0001052	Nevus flammeus	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0011355	HP:0001052	Nevus flammeus	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011355	HP:0001026	Penetrating foot ulcers	2	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		71
HP:0011355	HP:0001026	Penetrating foot ulcers	2	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		5
HP:0011355	HP:0001034	Hypermelanotic macule	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0011355	HP:0001034	Hypermelanotic macule	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0011355	HP:0200016	Acrokeratosis	2	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis	.		86
HP:0011355	HP:0012500	Verrucous papule	2	ATP2A2 CL E G H	488	812	OMIM:101900	Acrokeratosis verruciformis			86
HP:0011355	HP:0025512	Skin-colored papule	2	ATP2A2 CL E G H	488	812	ORPHA:79151	Acrokeratosis verruciformis of Hopf	HP:0040281 - Very frequent		86
HP:0011355	HP:0001034	Hypermelanotic macule	2	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040281 - Very frequent		86
HP:0011355	HP:0200016	Acrokeratosis	2	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040281 - Very frequent		86
HP:0011355	HP:0010612	Plantar pits	2	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040282 - Frequent		86
HP:0011355	HP:0001034	Hypermelanotic macule	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	HP:0040283 - Occasional		86
HP:0011355	HP:0200016	Acrokeratosis	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.		86
HP:0011355	HP:0010610	Palmar pits	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.		86
HP:0011355	HP:0010612	Plantar pits	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.		86
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional		5
HP:0011355	HP:0010562	Keloids	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0011355	HP:0000963	Thin skin	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		169
HP:0011355	HP:0004334	Dermal atrophy	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011355	HP:0100277	Periauricular skin pits	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0011355	HP:0001482	Subcutaneous nodule	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43			8
HP:0011355	HP:0000963	Thin skin	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0011355	HP:0001075	Atrophic scars	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0011355	HP:0004334	Dermal atrophy	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0011355	HP:0000384	Preauricular skin tag	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0011355	HP:0000960	Sacral dimple	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0011355	HP:0100277	Periauricular skin pits	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0011355	HP:0100277	Periauricular skin pits	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011355	HP:0000963	Thin skin	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		29
HP:0011355	HP:0001075	Atrophic scars	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0011355	HP:0004334	Dermal atrophy	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0011355	HP:0001075	Atrophic scars	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011355	HP:0004334	Dermal atrophy	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011355	HP:0000960	Sacral dimple	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.		34
HP:0011355	HP:0000960	Sacral dimple	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011355	HP:0000960	Sacral dimple	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000960	Sacral dimple	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000384	Preauricular skin tag	2	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0011355	HP:0001034	Hypermelanotic macule	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0011355	HP:0001034	Hypermelanotic macule	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011355	HP:0005590	Spotty hypopigmentation	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0011355	HP:0000995	Melanocytic nevus	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0011355	HP:0001057	Aplasia cutis congenita	2	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita			1
HP:0011355	HP:0007383	Congenital localized absence of skin	2	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent		1
HP:0011355	HP:0001057	Aplasia cutis congenita	2	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC			1
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011355	HP:0001054	Numerous nevi	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011355	HP:0000963	Thin skin	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		276
HP:0011355	HP:0004334	Dermal atrophy	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011355	HP:0001054	Numerous nevi	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011355	HP:0001054	Numerous nevi	2	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.		276
HP:0011355	HP:0001062	Atypical nevus	2	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.		276
HP:0011355	HP:0001074	Atypical nevi in non-sun exposed areas	2	BRAF CL E G H	673	1097	OMIM:155600	Melanoma, cutaneous malignant	.		276
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011355	HP:0001054	Numerous nevi	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011355	HP:0000995	Melanocytic nevus	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0011355	HP:0001482	Subcutaneous nodule	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		276
HP:0011355	HP:0001482	Subcutaneous nodule	2	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040281 - Very frequent		276
HP:0011355	HP:0010816	Epidermal nevus	2	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum			276
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0011355	HP:0000384	Preauricular skin tag	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0011355	HP:0001034	Hypermelanotic macule	2	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0011355	HP:0001482	Subcutaneous nodule	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0011355	HP:0001034	Hypermelanotic macule	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011355	HP:0001034	Hypermelanotic macule	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011355	HP:0001034	Hypermelanotic macule	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011355	HP:0000960	Sacral dimple	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000963	Thin skin	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.		15
HP:0011355	HP:0001075	Atrophic scars	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.		15
HP:0011355	HP:0004334	Dermal atrophy	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0011355	HP:0001034	Hypermelanotic macule	2	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		15
HP:0011355	HP:0001075	Atrophic scars	2	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		15
HP:0011355	HP:0004334	Dermal atrophy	2	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			15
HP:0011355	HP:0001034	Hypermelanotic macule	2	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		7
HP:0011355	HP:0001075	Atrophic scars	2	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		7
HP:0011355	HP:0004334	Dermal atrophy	2	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome			7
HP:0011355	HP:0001482	Subcutaneous nodule	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0011355	HP:0100814	Blue nevus	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0011355	HP:0000960	Sacral dimple	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0011355	HP:0000960	Sacral dimple	2	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0011355	HP:0025474	Erythematous plaque	2	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris			33
HP:0011355	HP:0001075	Atrophic scars	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0011355	HP:0004334	Dermal atrophy	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0011355	HP:0000963	Thin skin	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011355	HP:0000995	Melanocytic nevus	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		317
HP:0011355	HP:0001034	Hypermelanotic macule	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0011355	HP:0000384	Preauricular skin tag	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0011355	HP:0000960	Sacral dimple	2	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0011355	HP:0001482	Subcutaneous nodule	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0031917	Digital ulcer	2	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia			56
HP:0011355	HP:0031917	Digital ulcer	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive			56
HP:0011355	HP:0000960	Sacral dimple	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent		83
HP:0011355	HP:0200040	Epidermoid cyst	2	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional		1003
HP:0011355	HP:0000963	Thin skin	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		636
HP:0011355	HP:0004334	Dermal atrophy	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011355	HP:0000995	Melanocytic nevus	2	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040283 - Occasional		87
HP:0011355	HP:0000960	Sacral dimple	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0011355	HP:0001052	Nevus flammeus	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011355	HP:0001052	Nevus flammeus	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011355	HP:0001054	Numerous nevi	2	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.		145
HP:0011355	HP:0001062	Atypical nevus	2	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.		145
HP:0011355	HP:0001074	Atypical nevi in non-sun exposed areas	2	CDK4 CL E G H	1019	1773	OMIM:609048	Melanoma, cutaneous malignant, susceptibility to, 3	.		145
HP:0011355	HP:0001482	Subcutaneous nodule	2	CDK4 CL E G H	1019	1773	ORPHA:99971	Well-differentiated liposarcoma	HP:0040281 - Very frequent		145
HP:0011355	HP:0001034	Hypermelanotic macule	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011355	HP:0020073	Hypopigmented macule	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0011355	HP:0001034	Hypermelanotic macule	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011355	HP:0020073	Hypopigmented macule	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0011355	HP:0020073	Hypopigmented macule	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0011355	HP:0001052	Nevus flammeus	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0011355	HP:0001034	Hypermelanotic macule	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011355	HP:0004334	Dermal atrophy	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0011355	HP:0001034	Hypermelanotic macule	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011355	HP:0020073	Hypopigmented macule	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0011355	HP:0001034	Hypermelanotic macule	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011355	HP:0020073	Hypopigmented macule	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011355	HP:0001034	Hypermelanotic macule	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011355	HP:0001034	Hypermelanotic macule	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011355	HP:0200040	Epidermoid cyst	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011355	HP:0031289	White papule	2	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040282 - Frequent		1371
HP:0011355	HP:0000384	Preauricular skin tag	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0011355	HP:0000384	Preauricular skin tag	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0011355	HP:0000995	Melanocytic nevus	2	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional		52
HP:0011355	HP:0001075	Atrophic scars	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0011355	HP:0004334	Dermal atrophy	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0011355	HP:0001075	Atrophic scars	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0011355	HP:0004334	Dermal atrophy	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0011355	HP:0000963	Thin skin	2	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0011355	HP:0001034	Hypermelanotic macule	2	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0011355	HP:0010610	Palmar pits	2	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3	HP:0040284 - Very rare
HP:0011355	HP:0100277	Periauricular skin pits	2	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0011355	HP:0001034	Hypermelanotic macule	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0011355	HP:0000960	Sacral dimple	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		38
HP:0011355	HP:0001075	Atrophic scars	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0011355	HP:0004334	Dermal atrophy	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0011355	HP:0001075	Atrophic scars	2	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0011355	HP:0004334	Dermal atrophy	2	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0011355	HP:0045059	Hyperkeratotic papule	2	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040281 - Very frequent		2
HP:0011355	HP:0012500	Verrucous papule	2	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional		2
HP:0011355	HP:0001034	Hypermelanotic macule	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011355	HP:0001057	Aplasia cutis congenita	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0011355	HP:0001075	Atrophic scars	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0011355	HP:0004334	Dermal atrophy	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			129
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0011355	HP:0001057	Aplasia cutis congenita	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		129
HP:0011355	HP:0000963	Thin skin	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0011355	HP:0001075	Atrophic scars	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0011355	HP:0001482	Subcutaneous nodule	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0011355	HP:0004334	Dermal atrophy	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0011355	HP:0025509	Piezogenic pedal papules	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0011355	HP:0001482	Subcutaneous nodule	2	COL1A1 CL E G H	1277	2197	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent		373
HP:0011355	HP:0001075	Atrophic scars	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0011355	HP:0004334	Dermal atrophy	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0011355	HP:0000963	Thin skin	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0011355	HP:0000963	Thin skin	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0011355	HP:0000963	Thin skin	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0011355	HP:0000963	Thin skin	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0011355	HP:0001075	Atrophic scars	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0011355	HP:0004334	Dermal atrophy	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0011355	HP:0001075	Atrophic scars	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	HP:0040284 - Very rare		243
HP:0011355	HP:0004334	Dermal atrophy	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0011355	HP:0000963	Thin skin	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.		243
HP:0011355	HP:0001075	Atrophic scars	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.		243
HP:0011355	HP:0004334	Dermal atrophy	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0011355	HP:0000963	Thin skin	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0011355	HP:0001034	Hypermelanotic macule	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0011355	HP:0025474	Erythematous plaque	2	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional		284
HP:0011355	HP:0000384	Preauricular skin tag	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0011355	HP:0000963	Thin skin	2	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent		749
HP:0011355	HP:0001075	Atrophic scars	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011355	HP:0004334	Dermal atrophy	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011355	HP:0001075	Atrophic scars	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0011355	HP:0004334	Dermal atrophy	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0011355	HP:0000963	Thin skin	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0011355	HP:0000995	Melanocytic nevus	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0011355	HP:0001075	Atrophic scars	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011355	HP:0001482	Subcutaneous nodule	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0011355	HP:0004334	Dermal atrophy	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011355	HP:0001075	Atrophic scars	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		660
HP:0011355	HP:0001482	Subcutaneous nodule	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0011355	HP:0004334	Dermal atrophy	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0011355	HP:0025509	Piezogenic pedal papules	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0011355	HP:0001075	Atrophic scars	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0001482	Subcutaneous nodule	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0004334	Dermal atrophy	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0001075	Atrophic scars	2	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0011355	HP:0004334	Dermal atrophy	2	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0011355	HP:0001075	Atrophic scars	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		325
HP:0011355	HP:0001482	Subcutaneous nodule	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0011355	HP:0004334	Dermal atrophy	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0011355	HP:0025509	Piezogenic pedal papules	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0011355	HP:0001075	Atrophic scars	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0001482	Subcutaneous nodule	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0004334	Dermal atrophy	2	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0001075	Atrophic scars	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0011355	HP:0004334	Dermal atrophy	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0011355	HP:0001075	Atrophic scars	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0011355	HP:0004334	Dermal atrophy	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0011355	HP:0001075	Atrophic scars	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0011355	HP:0004334	Dermal atrophy	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0011355	HP:0001075	Atrophic scars	2	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa			263
HP:0011355	HP:0001057	Aplasia cutis congenita	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0011355	HP:0001057	Aplasia cutis congenita	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0011355	HP:0001075	Atrophic scars	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0011355	HP:0001075	Atrophic scars	2	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional		263
HP:0011355	HP:0001482	Subcutaneous nodule	2	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional		263
HP:0011355	HP:0001075	Atrophic scars	2	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant			263
HP:0011355	HP:0001075	Atrophic scars	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0011355	HP:0007383	Congenital localized absence of skin	2	COL7A1 CL E G H	1294	2214	OMIM:132000	Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails	.		263
HP:0011355	HP:0000963	Thin skin	2	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent		263
HP:0011355	HP:0025474	Erythematous plaque	2	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent		263
HP:0011355	HP:0001075	Atrophic scars	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form			263
HP:0011355	HP:0010562	Keloids	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0011355	HP:0045059	Hyperkeratotic papule	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040283 - Occasional		263
HP:0011355	HP:0030350	Erythematous papule	2	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040283 - Occasional		263
HP:0011355	HP:0001075	Atrophic scars	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa			263
HP:0011355	HP:0001057	Aplasia cutis congenita	2	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0011355	HP:0001075	Atrophic scars	2	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa			263
HP:0011355	HP:0001075	Atrophic scars	2	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.		263
HP:0011355	HP:0004334	Dermal atrophy	2	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn			263
HP:0011355	HP:0000960	Sacral dimple	2	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0011355	HP:0001034	Hypermelanotic macule	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011355	HP:0004334	Dermal atrophy	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011355	HP:0001057	Aplasia cutis congenita	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040280 - Obligate		6
HP:0011355	HP:0000960	Sacral dimple	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0011355	HP:0004334	Dermal atrophy	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent		6
HP:0011355	HP:0007398	Asymmetric, linear skin defects	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0011355	HP:0000384	Preauricular skin tag	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0000960	Sacral dimple	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0000960	Sacral dimple	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0001057	Aplasia cutis congenita	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0001057	Aplasia cutis congenita	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0100277	Periauricular skin pits	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0001034	Hypermelanotic macule	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011355	HP:0010562	Keloids	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011355	HP:0010562	Keloids	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0011355	HP:0010562	Keloids	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare		291
HP:0011355	HP:0005590	Spotty hypopigmentation	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0011355	HP:0000384	Preauricular skin tag	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0000960	Sacral dimple	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0011355	HP:0000960	Sacral dimple	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0011355	HP:0001057	Aplasia cutis congenita	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0001057	Aplasia cutis congenita	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0100277	Periauricular skin pits	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0000963	Thin skin	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0011355	HP:0001034	Hypermelanotic macule	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		160
HP:0011355	HP:0000960	Sacral dimple	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0011355	HP:0000960	Sacral dimple	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011355	HP:0004334	Dermal atrophy	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0011355	HP:0001482	Subcutaneous nodule	2	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		88
HP:0011355	HP:0001482	Subcutaneous nodule	2	CTNNB1 CL E G H	1499	2514	ORPHA:91414	Pilomatrixoma			88
HP:0011355	HP:0200040	Epidermoid cyst	2	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000384	Preauricular skin tag	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional		15
HP:0011355	HP:0001075	Atrophic scars	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011355	HP:0004334	Dermal atrophy	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011355	HP:0004334	Dermal atrophy	2	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type			38
HP:0011355	HP:0001034	Hypermelanotic macule	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0011355	HP:0001034	Hypermelanotic macule	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011355	HP:0001034	Hypermelanotic macule	2	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		27
HP:0011355	HP:0001034	Hypermelanotic macule	2	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		111
HP:0011355	HP:0001034	Hypermelanotic macule	2	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0011355	HP:0001482	Subcutaneous nodule	2	CYLD CL E G H	1540	2584	ORPHA:211	Familial cylindromatosis	HP:0040281 - Very frequent		126
HP:0011355	HP:0001482	Subcutaneous nodule	2	CYLD CL E G H	1540	2584	ORPHA:867	Familial multiple trichoepithelioma	HP:0040281 - Very frequent		126
HP:0011355	HP:0001052	Nevus flammeus	2	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent		101
HP:0011355	HP:0001114	Xanthelasma	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011355	HP:0010874	Tendon xanthomatosis	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011355	HP:0010874	Tendon xanthomatosis	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0011355	HP:0031290	Tuberous xanthoma	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.		114
HP:0011355	HP:0000384	Preauricular skin tag	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent		2
HP:0011355	HP:0001482	Subcutaneous nodule	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		2
HP:0011355	HP:0000960	Sacral dimple	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0011355	HP:0030350	Erythematous papule	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0011355	HP:0000963	Thin skin	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0011355	HP:0000995	Melanocytic nevus	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		30
HP:0011355	HP:0001034	Hypermelanotic macule	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		30
HP:0011355	HP:0004334	Dermal atrophy	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		30
HP:0011355	HP:0004334	Dermal atrophy	2	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.		30
HP:0011355	HP:0001482	Subcutaneous nodule	2	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040281 - Very frequent
HP:0011355	HP:0000963	Thin skin	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0011355	HP:0000960	Sacral dimple	2	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	HP:0040283 - Occasional		33
HP:0011355	HP:0004334	Dermal atrophy	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional		72
HP:0011355	HP:0000960	Sacral dimple	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0011355	HP:0000960	Sacral dimple	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0011355	HP:0001052	Nevus flammeus	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0011355	HP:0001034	Hypermelanotic macule	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		65
HP:0011355	HP:0004334	Dermal atrophy	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0011355	HP:0004334	Dermal atrophy	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		65
HP:0011355	HP:0004334	Dermal atrophy	2	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0011355	HP:0001057	Aplasia cutis congenita	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		9
HP:0011355	HP:0001057	Aplasia cutis congenita	2	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0011355	HP:0001057	Aplasia cutis congenita	2	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita			9
HP:0011355	HP:0007383	Congenital localized absence of skin	2	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent		9
HP:0011355	HP:0000960	Sacral dimple	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0001057	Aplasia cutis congenita	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		18
HP:0011355	HP:0001057	Aplasia cutis congenita	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0011355	HP:0001075	Atrophic scars	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0011355	HP:0004334	Dermal atrophy	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0011355	HP:0001057	Aplasia cutis congenita	2	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA			747
HP:0011355	HP:0001034	Hypermelanotic macule	2	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0011355	HP:0001034	Hypermelanotic macule	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011355	HP:0000960	Sacral dimple	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0011355	HP:0001052	Nevus flammeus	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0011355	HP:0000960	Sacral dimple	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0011355	HP:0001052	Nevus flammeus	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0011355	HP:0000960	Sacral dimple	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0011355	HP:0000960	Sacral dimple	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0011355	HP:0001052	Nevus flammeus	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0011355	HP:0000960	Sacral dimple	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0011355	HP:0000960	Sacral dimple	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare		134
HP:0011355	HP:0000960	Sacral dimple	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0011355	HP:0005590	Spotty hypopigmentation	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040281 - Very frequent		51
HP:0011355	HP:0025474	Erythematous plaque	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0011355	HP:0001482	Subcutaneous nodule	2	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent		14
HP:0011355	HP:0000963	Thin skin	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011355	HP:0007411	Hypoplastic-absent sebaceous glands	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0011355	HP:0000963	Thin skin	2	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		86
HP:0011355	HP:0000963	Thin skin	2	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		56
HP:0011355	HP:0001052	Nevus flammeus	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011355	HP:0000384	Preauricular skin tag	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0011355	HP:0100277	Periauricular skin pits	2	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		6
HP:0011355	HP:0000384	Preauricular skin tag	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional		3
HP:0011355	HP:0100277	Periauricular skin pits	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0011355	HP:0000995	Melanocytic nevus	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0011355	HP:0000384	Preauricular skin tag	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0011355	HP:0000384	Preauricular skin tag	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0011355	HP:0100277	Periauricular skin pits	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0011355	HP:0000960	Sacral dimple	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		79
HP:0011355	HP:0000960	Sacral dimple	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0011355	HP:0001052	Nevus flammeus	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0011355	HP:0020073	Hypopigmented macule	2	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease			151
HP:0011355	HP:0001482	Subcutaneous nodule	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0011355	HP:0004334	Dermal atrophy	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0011355	HP:0001057	Aplasia cutis congenita	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		4
HP:0011355	HP:0001057	Aplasia cutis congenita	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0011355	HP:0001034	Hypermelanotic macule	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011355	HP:0010562	Keloids	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011355	HP:0010562	Keloids	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare		250
HP:0011355	HP:0020073	Hypopigmented macule	2	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		3
HP:0011355	HP:0001114	Xanthelasma	2	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1			1
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1			1
HP:0011355	HP:0010874	Tendon xanthomatosis	2	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1			1
HP:0011355	HP:0001482	Subcutaneous nodule	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0011355	HP:0000963	Thin skin	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0011355	HP:0000995	Melanocytic nevus	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		106
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		106
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		106
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		106
HP:0011355	HP:0000963	Thin skin	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0011355	HP:0000995	Melanocytic nevus	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		54
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		54
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		54
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		54
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0011355	HP:0000963	Thin skin	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0011355	HP:0000995	Melanocytic nevus	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		158
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		158
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		158
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		158
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0011355	HP:0000963	Thin skin	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0011355	HP:0000995	Melanocytic nevus	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		83
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		83
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		83
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		83
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0011355	HP:0004334	Dermal atrophy	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0011355	HP:0001034	Hypermelanotic macule	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0011355	HP:0000995	Melanocytic nevus	2	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0011355	HP:0000963	Thin skin	2	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		36
HP:0011355	HP:0001034	Hypermelanotic macule	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0011355	HP:0000384	Preauricular skin tag	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0011355	HP:0000960	Sacral dimple	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0011355	HP:0000384	Preauricular skin tag	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		135
HP:0011355	HP:0000384	Preauricular skin tag	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional		135
HP:0011355	HP:0100267	Lip pit	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional		135
HP:0011355	HP:0100277	Periauricular skin pits	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0011355	HP:0100277	Periauricular skin pits	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1			135
HP:0011355	HP:0000384	Preauricular skin tag	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.		135
HP:0011355	HP:0100277	Periauricular skin pits	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0011355	HP:0100277	Periauricular skin pits	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome			135
HP:0011355	HP:0100277	Periauricular skin pits	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0011355	HP:0000995	Melanocytic nevus	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0011355	HP:0001026	Penetrating foot ulcers	2	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040284 - Very rare		28
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia			340
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0011355	HP:0000960	Sacral dimple	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0011355	HP:0020073	Hypopigmented macule	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E			73
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0011355	HP:0000960	Sacral dimple	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0011355	HP:0001034	Hypermelanotic macule	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0011355	HP:0001482	Subcutaneous nodule	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		59
HP:0011355	HP:0000960	Sacral dimple	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0011355	HP:0000995	Melanocytic nevus	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0011355	HP:0004334	Dermal atrophy	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0011355	HP:0004334	Dermal atrophy	2	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0011355	HP:0001482	Subcutaneous nodule	2	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional		1361
HP:0011355	HP:0004334	Dermal atrophy	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0011355	HP:0004334	Dermal atrophy	2	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0011355	HP:0005590	Spotty hypopigmentation	2	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.		136
HP:0011355	HP:0001482	Subcutaneous nodule	2	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0011355	HP:0001052	Nevus flammeus	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0011355	HP:0001482	Subcutaneous nodule	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		172
HP:0011355	HP:0000384	Preauricular skin tag	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.		172
HP:0011355	HP:0000995	Melanocytic nevus	2	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0011355	HP:0000995	Melanocytic nevus	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent		175
HP:0011355	HP:0001482	Subcutaneous nodule	2	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent		175
HP:0011355	HP:0000995	Melanocytic nevus	2	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	.		145
HP:0011355	HP:0000995	Melanocytic nevus	2	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic	.		145
HP:0011355	HP:0001054	Numerous nevi	2	FGFR3 CL E G H	2261	3690	OMIM:162900	Epidermal nevus, somatic	.		145
HP:0011355	HP:0001034	Hypermelanotic macule	2	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040283 - Occasional		145
HP:0011355	HP:0000384	Preauricular skin tag	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0000960	Sacral dimple	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0011355	HP:0001057	Aplasia cutis congenita	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0100277	Periauricular skin pits	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0000995	Melanocytic nevus	2	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome	HP:0040283 - Occasional		61
HP:0011355	HP:0001075	Atrophic scars	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent		13
HP:0011355	HP:0004334	Dermal atrophy	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0011355	HP:0000960	Sacral dimple	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0010562	Keloids	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0011355	HP:0000963	Thin skin	2	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		493
HP:0011355	HP:0100277	Periauricular skin pits	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011355	HP:0025473	Hyperpigmented papule	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011355	HP:0000963	Thin skin	2	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent		493
HP:0011355	HP:0000384	Preauricular skin tag	2	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.		233
HP:0011355	HP:0100277	Periauricular skin pits	2	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0011355	HP:0000963	Thin skin	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0011355	HP:0000384	Preauricular skin tag	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0011355	HP:0100814	Blue nevus	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011355	HP:0001482	Subcutaneous nodule	2	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040281 - Very frequent		105
HP:0011355	HP:0000960	Sacral dimple	2	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0011355	HP:0000960	Sacral dimple	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0011355	HP:0001052	Nevus flammeus	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0011355	HP:0001114	Xanthelasma	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0011355	HP:0100277	Periauricular skin pits	2	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0011355	HP:0100277	Periauricular skin pits	2	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0011355	HP:0100277	Periauricular skin pits	2	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0011355	HP:0100277	Periauricular skin pits	2	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0011355	HP:0100277	Periauricular skin pits	2	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0011355	HP:0100277	Periauricular skin pits	2	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		56
HP:0011355	HP:0025507	Yellow papule	2	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY			129
HP:0011355	HP:0001114	Xanthelasma	2	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1			98
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1			98
HP:0011355	HP:0010874	Tendon xanthomatosis	2	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1			98
HP:0011355	HP:0001034	Hypermelanotic macule	2	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		68
HP:0011355	HP:0100277	Periauricular skin pits	2	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.		199
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0011355	HP:0045059	Hyperkeratotic papule	2	GJB2 CL E G H	2706	4284	ORPHA:2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome			199
HP:0011355	HP:0001034	Hypermelanotic macule	2	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		74
HP:0011355	HP:0001034	Hypermelanotic macule	2	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		12
HP:0011355	HP:0045059	Hyperkeratotic papule	2	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia			56
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0011355	HP:0001482	Subcutaneous nodule	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0011355	HP:0001482	Subcutaneous nodule	2	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0011355	HP:0001034	Hypermelanotic macule	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0011355	HP:0100814	Blue nevus	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		16
HP:0011355	HP:0000384	Preauricular skin tag	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0011355	HP:0100277	Periauricular skin pits	2	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		2
HP:0011355	HP:0000384	Preauricular skin tag	2	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.		2
HP:0011355	HP:0001034	Hypermelanotic macule	2	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040281 - Very frequent		7
HP:0011355	HP:0001052	Nevus flammeus	2	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040281 - Very frequent		7
HP:0011355	HP:0001052	Nevus flammeus	2	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple	.		7
HP:0011355	HP:0000963	Thin skin	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0011355	HP:0004334	Dermal atrophy	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0011355	HP:0004334	Dermal atrophy	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011355	HP:0001034	Hypermelanotic macule	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0011355	HP:0001034	Hypermelanotic macule	2	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0011355	HP:0025027	Osteoma cutis	2	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.		101
HP:0011355	HP:0001034	Hypermelanotic macule	2	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040283 - Occasional		101
HP:0011355	HP:0001482	Subcutaneous nodule	2	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040281 - Very frequent		101
HP:0011355	HP:0025027	Osteoma cutis	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0011355	HP:0025027	Osteoma cutis	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0011355	HP:0025027	Osteoma cutis	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional		101
HP:0011355	HP:0000960	Sacral dimple	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011355	HP:0001034	Hypermelanotic macule	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011355	HP:0000963	Thin skin	2	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		52
HP:0011355	HP:0000384	Preauricular skin tag	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011355	HP:0100277	Periauricular skin pits	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011355	HP:0000384	Preauricular skin tag	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011355	HP:0100277	Periauricular skin pits	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011355	HP:0001034	Hypermelanotic macule	2	GPNMB CL E G H	10457	4462	OMIM:617920	Amyloidosis, primary localized cutaneous, 3	.
HP:0011355	HP:0010782	Shoulder dimple	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0011355	HP:0100267	Lip pit	2	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040281 - Very frequent		12
HP:0011355	HP:0100267	Lip pit	2	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2			12
HP:0011355	HP:0100277	Periauricular skin pits	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0011355	HP:0004334	Dermal atrophy	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0011355	HP:0000960	Sacral dimple	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0001052	Nevus flammeus	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0000960	Sacral dimple	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0001052	Nevus flammeus	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0000960	Sacral dimple	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0001052	Nevus flammeus	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0001052	Nevus flammeus	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		4
HP:0011355	HP:0001052	Nevus flammeus	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0011355	HP:0001034	Hypermelanotic macule	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0011355	HP:0000384	Preauricular skin tag	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011355	HP:0000384	Preauricular skin tag	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011355	HP:0000960	Sacral dimple	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011355	HP:0001034	Hypermelanotic macule	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011355	HP:0000384	Preauricular skin tag	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011355	HP:0100277	Periauricular skin pits	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011355	HP:0025474	Erythematous plaque	2	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0011355	HP:0030350	Erythematous papule	2	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040281 - Very frequent
HP:0011355	HP:0000960	Sacral dimple	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0011355	HP:0004334	Dermal atrophy	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent		11
HP:0011355	HP:0007398	Asymmetric, linear skin defects	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0011355	HP:0100814	Blue nevus	2	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0011355	HP:0000960	Sacral dimple	2	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional
HP:0011355	HP:0100277	Periauricular skin pits	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0011355	HP:0001482	Subcutaneous nodule	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		4
HP:0011355	HP:0001482	Subcutaneous nodule	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		4
HP:0011355	HP:0001482	Subcutaneous nodule	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0011355	HP:0001482	Subcutaneous nodule	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0011355	HP:0001034	Hypermelanotic macule	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011355	HP:0001482	Subcutaneous nodule	2	HMGA2 CL E G H	8091	5009	ORPHA:99971	Well-differentiated liposarcoma	HP:0040281 - Very frequent		2
HP:0011355	HP:0000960	Sacral dimple	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0011355	HP:0100277	Periauricular skin pits	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0011355	HP:0100277	Periauricular skin pits	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0011355	HP:0000384	Preauricular skin tag	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional		39
HP:0011355	HP:0000960	Sacral dimple	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional		11
HP:0011355	HP:0000995	Melanocytic nevus	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0011355	HP:0000995	Melanocytic nevus	2	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic	.		113
HP:0011355	HP:0001054	Numerous nevi	2	HRAS CL E G H	3265	5173	OMIM:162900	Epidermal nevus, somatic	.		113
HP:0011355	HP:0000995	Melanocytic nevus	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0011355	HP:0000995	Melanocytic nevus	2	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital			113
HP:0011355	HP:0025510	Nevus spilus	2	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.		113
HP:0011355	HP:0000995	Melanocytic nevus	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011355	HP:0100814	Blue nevus	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011355	HP:0025510	Nevus spilus	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011355	HP:0010816	Epidermal nevus	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011355	HP:0010816	Epidermal nevus	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0011355	HP:0001057	Aplasia cutis congenita	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0011355	HP:0001482	Subcutaneous nodule	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0011355	HP:0001482	Subcutaneous nodule	2	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		15
HP:0011355	HP:0025473	Hyperpigmented papule	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011355	HP:0001482	Subcutaneous nodule	2	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040282 - Frequent		15
HP:0011355	HP:0001482	Subcutaneous nodule	2	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040282 - Frequent		29
HP:0011355	HP:0001482	Subcutaneous nodule	2	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040282 - Frequent		29
HP:0011355	HP:0100898	Connective tissue nevi	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011355	HP:0200040	Epidermoid cyst	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0011355	HP:0020073	Hypopigmented macule	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0011355	HP:0001034	Hypermelanotic macule	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011355	HP:0001482	Subcutaneous nodule	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011355	HP:0100898	Connective tissue nevi	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011355	HP:0020073	Hypopigmented macule	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011355	HP:0001482	Subcutaneous nodule	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		60
HP:0011355	HP:0000963	Thin skin	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0011355	HP:0001034	Hypermelanotic macule	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0011355	HP:0001052	Nevus flammeus	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0011355	HP:0000995	Melanocytic nevus	2	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.		9
HP:0011355	HP:0001034	Hypermelanotic macule	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0011355	HP:0001034	Hypermelanotic macule	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011355	HP:0001052	Nevus flammeus	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		9
HP:0011355	HP:0001482	Subcutaneous nodule	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0011355	HP:0001482	Subcutaneous nodule	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0001482	Subcutaneous nodule	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0001482	Subcutaneous nodule	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		31
HP:0011355	HP:0001482	Subcutaneous nodule	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0011355	HP:0001034	Hypermelanotic macule	2	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to	.		2
HP:0011355	HP:0001034	Hypermelanotic macule	2	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0011355	HP:0001034	Hypermelanotic macule	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0011355	HP:0001482	Subcutaneous nodule	2	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A	HP:0040281 - Very frequent		229
HP:0011355	HP:0000963	Thin skin	2	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional
HP:0011355	HP:0004334	Dermal atrophy	2	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0011355	HP:0100267	Lip pit	2	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent		99
HP:0011355	HP:0100267	Lip pit	2	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent		99
HP:0011355	HP:0100267	Lip pit	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0011355	HP:0100267	Lip pit	2	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040281 - Very frequent		99
HP:0011355	HP:0100267	Lip pit	2	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1			99
HP:0011355	HP:0000384	Preauricular skin tag	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional		4
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional		79
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita			124
HP:0011355	HP:0007383	Congenital localized absence of skin	2	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent		124
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent		124
HP:0011355	HP:0001075	Atrophic scars	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0011355	HP:0004334	Dermal atrophy	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0011355	HP:0001075	Atrophic scars	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0011355	HP:0004334	Dermal atrophy	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0011355	HP:0001075	Atrophic scars	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0011355	HP:0004334	Dermal atrophy	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			124
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional		124
HP:0011355	HP:0001057	Aplasia cutis congenita	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		124
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional		124
HP:0011355	HP:0100277	Periauricular skin pits	2	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0011355	HP:0100277	Periauricular skin pits	2	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0011355	HP:0000960	Sacral dimple	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011355	HP:0001034	Hypermelanotic macule	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011355	HP:0001054	Numerous nevi	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011355	HP:0000960	Sacral dimple	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.		283
HP:0011355	HP:0000960	Sacral dimple	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0011355	HP:0001034	Hypermelanotic macule	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011355	HP:0001054	Numerous nevi	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0011355	HP:0100277	Periauricular skin pits	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0011355	HP:0100277	Periauricular skin pits	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0011355	HP:0000960	Sacral dimple	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011355	HP:0000960	Sacral dimple	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0011355	HP:0001052	Nevus flammeus	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0011355	HP:0001052	Nevus flammeus	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0011355	HP:0001057	Aplasia cutis congenita	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0011355	HP:0000963	Thin skin	2	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		1
HP:0011355	HP:0001034	Hypermelanotic macule	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011355	HP:0000384	Preauricular skin tag	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0011355	HP:0100267	Lip pit	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		53
HP:0011355	HP:0001034	Hypermelanotic macule	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011355	HP:0100277	Periauricular skin pits	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011355	HP:0100267	Lip pit	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011355	HP:0001034	Hypermelanotic macule	2	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0011355	HP:0100277	Periauricular skin pits	2	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0011355	HP:0001034	Hypermelanotic macule	2	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		4
HP:0011355	HP:0001482	Subcutaneous nodule	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0011355	HP:0000960	Sacral dimple	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0011355	HP:0031917	Digital ulcer	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0011355	HP:0031917	Digital ulcer	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0011355	HP:0001034	Hypermelanotic macule	2	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA			202
HP:0011355	HP:0000384	Preauricular skin tag	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0011355	HP:0001034	Hypermelanotic macule	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma	HP:0040283 - Occasional		327
HP:0011355	HP:0025473	Hyperpigmented papule	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0011355	HP:0030350	Erythematous papule	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0011355	HP:0001034	Hypermelanotic macule	2	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.		327
HP:0011355	HP:0001034	Hypermelanotic macule	2	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011355	HP:0001034	Hypermelanotic macule	2	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive			9
HP:0011355	HP:0004334	Dermal atrophy	2	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss			5
HP:0011355	HP:0000995	Melanocytic nevus	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0001034	Hypermelanotic macule	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0001482	Subcutaneous nodule	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0001482	Subcutaneous nodule	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0000960	Sacral dimple	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0011355	HP:0000960	Sacral dimple	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0011355	HP:0000384	Preauricular skin tag	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0011355	HP:0100267	Lip pit	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional		660
HP:0011355	HP:0001034	Hypermelanotic macule	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011355	HP:0100277	Periauricular skin pits	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011355	HP:0001034	Hypermelanotic macule	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011355	HP:0001052	Nevus flammeus	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0011355	HP:0001482	Subcutaneous nodule	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent		196
HP:0011355	HP:0000995	Melanocytic nevus	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0011355	HP:0000995	Melanocytic nevus	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		196
HP:0011355	HP:0001057	Aplasia cutis congenita	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0011355	HP:0010816	Epidermal nevus	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0011355	HP:0010816	Epidermal nevus	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0011355	HP:0001034	Hypermelanotic macule	2	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional		110
HP:0011355	HP:0020073	Hypopigmented macule	2	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			110
HP:0011355	HP:0005590	Spotty hypopigmentation	2	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040282 - Frequent		110
HP:0011355	HP:0001057	Aplasia cutis congenita	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0011355	HP:0001075	Atrophic scars	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0011355	HP:0004334	Dermal atrophy	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011355	HP:0001057	Aplasia cutis congenita	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011355	HP:0001075	Atrophic scars	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0011355	HP:0004334	Dermal atrophy	2	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex			110
HP:0011355	HP:0001034	Hypermelanotic macule	2	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		110
HP:0011355	HP:0020073	Hypopigmented macule	2	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			110
HP:0011355	HP:0005590	Spotty hypopigmentation	2	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		110
HP:0011355	HP:0045059	Hyperkeratotic papule	2	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		110
HP:0011355	HP:0001075	Atrophic scars	2	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	HP:0040283 - Occasional		110
HP:0011355	HP:0004334	Dermal atrophy	2	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			110
HP:0011355	HP:0001075	Atrophic scars	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		110
HP:0011355	HP:0004334	Dermal atrophy	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0011355	HP:0030350	Erythematous papule	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		110
HP:0011355	HP:0200040	Epidermoid cyst	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		27
HP:0011355	HP:0025248	Eruptive vellus hair cyst	2	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		27
HP:0011355	HP:0200040	Epidermoid cyst	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		23
HP:0011355	HP:0025248	Eruptive vellus hair cyst	2	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		23
HP:0011355	HP:0200040	Epidermoid cyst	2	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2	.		23
HP:0011355	HP:0000963	Thin skin	2	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040281 - Very frequent		67
HP:0011355	HP:0001034	Hypermelanotic macule	2	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional		173
HP:0011355	HP:0020073	Hypopigmented macule	2	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form			173
HP:0011355	HP:0005590	Spotty hypopigmentation	2	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040282 - Frequent		173
HP:0011355	HP:0001057	Aplasia cutis congenita	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0011355	HP:0001075	Atrophic scars	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0011355	HP:0004334	Dermal atrophy	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011355	HP:0001034	Hypermelanotic macule	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		173
HP:0011355	HP:0200040	Epidermoid cyst	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		173
HP:0011355	HP:0020073	Hypopigmented macule	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		173
HP:0011355	HP:0025473	Hyperpigmented papule	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		173
HP:0011355	HP:0010610	Palmar pits	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		173
HP:0011355	HP:0045059	Hyperkeratotic papule	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		173
HP:0011355	HP:0030350	Erythematous papule	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		173
HP:0011355	HP:0031293	Digital pitting scar	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		173
HP:0011355	HP:0001034	Hypermelanotic macule	2	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		173
HP:0011355	HP:0020073	Hypopigmented macule	2	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011355	HP:0005590	Spotty hypopigmentation	2	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		173
HP:0011355	HP:0007441	Hyperpigmented/hypopigmented macules	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation			173
HP:0011355	HP:0045059	Hyperkeratotic papule	2	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		173
HP:0011355	HP:0001075	Atrophic scars	2	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	HP:0040283 - Occasional		173
HP:0011355	HP:0004334	Dermal atrophy	2	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type			173
HP:0011355	HP:0001075	Atrophic scars	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		173
HP:0011355	HP:0004334	Dermal atrophy	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0011355	HP:0030350	Erythematous papule	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		173
HP:0011355	HP:0200040	Epidermoid cyst	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		41
HP:0011355	HP:0025248	Eruptive vellus hair cyst	2	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		41
HP:0011355	HP:0200040	Epidermoid cyst	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent		4
HP:0011355	HP:0025248	Eruptive vellus hair cyst	2	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		4
HP:0011355	HP:0001075	Atrophic scars	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		116
HP:0011355	HP:0004334	Dermal atrophy	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			116
HP:0011355	HP:0007383	Congenital localized absence of skin	2	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		116
HP:0011355	HP:0001057	Aplasia cutis congenita	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011355	HP:0001075	Atrophic scars	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011355	HP:0004334	Dermal atrophy	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			116
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011355	HP:0001057	Aplasia cutis congenita	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0011355	HP:0001075	Atrophic scars	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		167
HP:0011355	HP:0004334	Dermal atrophy	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			167
HP:0011355	HP:0007383	Congenital localized absence of skin	2	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		167
HP:0011355	HP:0001057	Aplasia cutis congenita	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011355	HP:0001075	Atrophic scars	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011355	HP:0004334	Dermal atrophy	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			167
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011355	HP:0001057	Aplasia cutis congenita	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0011355	HP:0001075	Atrophic scars	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		135
HP:0011355	HP:0004334	Dermal atrophy	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type			135
HP:0011355	HP:0007383	Congenital localized absence of skin	2	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		135
HP:0011355	HP:0001057	Aplasia cutis congenita	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011355	HP:0001075	Atrophic scars	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011355	HP:0004334	Dermal atrophy	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa			135
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011355	HP:0001057	Aplasia cutis congenita	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0011355	HP:0001052	Nevus flammeus	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0011355	HP:0007432	Intermittent generalized erythematous papular rash	2	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040283 - Occasional		35
HP:0011355	HP:0025474	Erythematous plaque	2	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent		35
HP:0011355	HP:0010874	Tendon xanthomatosis	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		2157
HP:0011355	HP:0001114	Xanthelasma	2	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1			2157
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1			2157
HP:0011355	HP:0010874	Tendon xanthomatosis	2	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1			2157
HP:0011355	HP:0010874	Tendon xanthomatosis	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		73
HP:0011355	HP:0010874	Tendon xanthomatosis	2	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.		73
HP:0011355	HP:0001482	Subcutaneous nodule	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		68
HP:0011355	HP:0001482	Subcutaneous nodule	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent		68
HP:0011355	HP:0100898	Connective tissue nevi	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040280 - Obligate		68
HP:0011355	HP:0100898	Connective tissue nevi	2	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.		68
HP:0011355	HP:0004334	Dermal atrophy	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0011355	HP:0010562	Keloids	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0011355	HP:0001482	Subcutaneous nodule	2	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis	HP:0040283 - Occasional		68
HP:0011355	HP:0000384	Preauricular skin tag	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0000960	Sacral dimple	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0011355	HP:0000960	Sacral dimple	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0011355	HP:0001057	Aplasia cutis congenita	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0001057	Aplasia cutis congenita	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0100277	Periauricular skin pits	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0000960	Sacral dimple	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040283 - Occasional		144
HP:0011355	HP:0000963	Thin skin	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0011355	HP:0000960	Sacral dimple	2	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0011355	HP:0000960	Sacral dimple	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0001013	Eruptive xanthomas	2	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY			35
HP:0011355	HP:0001013	Eruptive xanthomas	2	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040281 - Very frequent		35
HP:0011355	HP:0031290	Tuberous xanthoma	2	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0011355	HP:0000963	Thin skin	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0011355	HP:0000963	Thin skin	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent		645
HP:0011355	HP:0000963	Thin skin	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040282 - Frequent		645
HP:0011355	HP:0001034	Hypermelanotic macule	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0011355	HP:0004334	Dermal atrophy	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0011355	HP:0004334	Dermal atrophy	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0011355	HP:0000963	Thin skin	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent		645
HP:0011355	HP:0004334	Dermal atrophy	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent		645
HP:0011355	HP:0004334	Dermal atrophy	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0011355	HP:0001114	Xanthelasma	2	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	HP:0040283 - Occasional		106
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3			106
HP:0011355	HP:0001013	Eruptive xanthomas	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.		106
HP:0011355	HP:0001075	Atrophic scars	2	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent		4
HP:0011355	HP:0100277	Periauricular skin pits	2	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040282 - Frequent		4
HP:0011355	HP:0004334	Dermal atrophy	2	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata			4
HP:0011355	HP:0007515	Hypoplastic pilosebaceous units	2	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent		4
HP:0011355	HP:0045059	Hyperkeratotic papule	2	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040282 - Frequent		4
HP:0011355	HP:0000384	Preauricular skin tag	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040284 - Very rare		125
HP:0011355	HP:0001052	Nevus flammeus	2	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent		123
HP:0011355	HP:0000995	Melanocytic nevus	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		43
HP:0011355	HP:0001034	Hypermelanotic macule	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011355	HP:0001034	Hypermelanotic macule	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011355	HP:0001034	Hypermelanotic macule	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0011355	HP:0000384	Preauricular skin tag	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0011355	HP:0001034	Hypermelanotic macule	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011355	HP:0000960	Sacral dimple	2	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011355	HP:0000963	Thin skin	2	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0011355	HP:0001034	Hypermelanotic macule	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011355	HP:0001034	Hypermelanotic macule	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011355	HP:0001034	Hypermelanotic macule	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011355	HP:0001034	Hypermelanotic macule	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011355	HP:0001034	Hypermelanotic macule	2	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0011355	HP:0010562	Keloids	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0011355	HP:0010562	Keloids	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011355	HP:0001034	Hypermelanotic macule	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011355	HP:0000960	Sacral dimple	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0011355	HP:0001034	Hypermelanotic macule	2	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA			84
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.		22
HP:0011355	HP:0000995	Melanocytic nevus	2	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0011355	HP:0001482	Subcutaneous nodule	2	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		124
HP:0011355	HP:0000995	Melanocytic nevus	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0011355	HP:0001057	Aplasia cutis congenita	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011355	HP:0001482	Subcutaneous nodule	2	MDM2 CL E G H	4193	6973	ORPHA:99971	Well-differentiated liposarcoma	HP:0040281 - Very frequent		1
HP:0011355	HP:0000960	Sacral dimple	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional		228
HP:0011355	HP:0100277	Periauricular skin pits	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0011355	HP:0001034	Hypermelanotic macule	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0011355	HP:0000960	Sacral dimple	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0011355	HP:0000384	Preauricular skin tag	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0011355	HP:0001052	Nevus flammeus	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0011355	HP:0001482	Subcutaneous nodule	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		281
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional		281
HP:0011355	HP:0025474	Erythematous plaque	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent		281
HP:0011355	HP:0030350	Erythematous papule	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent		281
HP:0011355	HP:0001034	Hypermelanotic macule	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011355	HP:0020073	Hypopigmented macule	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0011355	HP:0001034	Hypermelanotic macule	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011355	HP:0020073	Hypopigmented macule	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0011355	HP:0000960	Sacral dimple	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0001052	Nevus flammeus	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0004334	Dermal atrophy	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040283 - Occasional		33
HP:0011355	HP:0100277	Periauricular skin pits	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011355	HP:0100277	Periauricular skin pits	2	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0011355	HP:0001034	Hypermelanotic macule	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011355	HP:0001482	Subcutaneous nodule	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0011355	HP:0000960	Sacral dimple	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0001052	Nevus flammeus	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0001057	Aplasia cutis congenita	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0011355	HP:0001075	Atrophic scars	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		6
HP:0011355	HP:0004334	Dermal atrophy	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0011355	HP:0001075	Atrophic scars	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0011355	HP:0004334	Dermal atrophy	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0011355	HP:0001482	Subcutaneous nodule	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent		2
HP:0011355	HP:0001034	Hypermelanotic macule	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0011355	HP:0001482	Subcutaneous nodule	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0011355	HP:0001482	Subcutaneous nodule	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040282 - Frequent		64
HP:0011355	HP:0025474	Erythematous plaque	2	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0011355	HP:0000995	Melanocytic nevus	2	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent		97
HP:0011355	HP:0031917	Digital ulcer	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0011355	HP:0000995	Melanocytic nevus	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0011355	HP:0001034	Hypermelanotic macule	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011355	HP:0001034	Hypermelanotic macule	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011355	HP:0000384	Preauricular skin tag	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011355	HP:0100267	Lip pit	2	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent		12
HP:0011355	HP:0001057	Aplasia cutis congenita	2	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina			45
HP:0011355	HP:0001057	Aplasia cutis congenita	2	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina			45
HP:0011355	HP:0025247	Dermoid cyst	2	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0011355	HP:0000963	Thin skin	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	HP:0040283 - Occasional		85
HP:0011355	HP:0001034	Hypermelanotic macule	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0011355	HP:0001034	Hypermelanotic macule	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0011355	HP:0000963	Thin skin	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0011355	HP:0004334	Dermal atrophy	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0011355	HP:0001052	Nevus flammeus	2	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent		47
HP:0011355	HP:0001482	Subcutaneous nodule	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000384	Preauricular skin tag	2	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0011355	HP:0000960	Sacral dimple	2	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0011355	HP:0001482	Subcutaneous nodule	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent		47
HP:0011355	HP:0001034	Hypermelanotic macule	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0011355	HP:0000960	Sacral dimple	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0011355	HP:0001034	Hypermelanotic macule	2	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		13
HP:0011355	HP:0000960	Sacral dimple	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0011355	HP:0001052	Nevus flammeus	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0011355	HP:0001034	Hypermelanotic macule	2	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		67
HP:0011355	HP:0001034	Hypermelanotic macule	2	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		37
HP:0011355	HP:0000960	Sacral dimple	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0011355	HP:0004334	Dermal atrophy	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent		3
HP:0011355	HP:0007398	Asymmetric, linear skin defects	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0011355	HP:0100267	Lip pit	2	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent		4
HP:0011355	HP:0000963	Thin skin	2	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		30
HP:0011355	HP:0001052	Nevus flammeus	2	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040283 - Occasional		9
HP:0011355	HP:0010816	Epidermal nevus	2	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC			9
HP:0011355	HP:0000960	Sacral dimple	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001057	Aplasia cutis congenita	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0011355	HP:0001034	Hypermelanotic macule	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0011355	HP:0025105	Nevus anemicus	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0011355	HP:0001034	Hypermelanotic macule	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0011355	HP:0001034	Hypermelanotic macule	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0011355	HP:0001034	Hypermelanotic macule	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011355	HP:0020073	Hypopigmented macule	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011355	HP:0001034	Hypermelanotic macule	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011355	HP:0001034	Hypermelanotic macule	2	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0011355	HP:0001034	Hypermelanotic macule	2	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011355	HP:0001034	Hypermelanotic macule	2	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011355	HP:0000963	Thin skin	2	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent		40
HP:0011355	HP:0000995	Melanocytic nevus	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12			7
HP:0011355	HP:0031917	Digital ulcer	2	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0011355	HP:0001034	Hypermelanotic macule	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		27
HP:0011355	HP:0100277	Periauricular skin pits	2	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0011355	HP:0100277	Periauricular skin pits	2	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0011355	HP:0100277	Periauricular skin pits	2	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0011355	HP:0100837	Atrophodermia vermiculata	2	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP			37
HP:0011355	HP:0007432	Intermittent generalized erythematous papular rash	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0011355	HP:0020073	Hypopigmented macule	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011355	HP:0001034	Hypermelanotic macule	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		17
HP:0011355	HP:0001057	Aplasia cutis congenita	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		452
HP:0011355	HP:0001057	Aplasia cutis congenita	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional		452
HP:0011355	HP:0025107	Cutis marmorata telangiectatica congenita	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.		452
HP:0011355	HP:0001482	Subcutaneous nodule	2	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		144
HP:0011355	HP:0100277	Periauricular skin pits	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0011355	HP:0001034	Hypermelanotic macule	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		12
HP:0011355	HP:0000963	Thin skin	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		79
HP:0011355	HP:0004334	Dermal atrophy	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011355	HP:0000995	Melanocytic nevus	2	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic	.		102
HP:0011355	HP:0001054	Numerous nevi	2	NRAS CL E G H	4893	7989	OMIM:162900	Epidermal nevus, somatic	.		102
HP:0011355	HP:0000995	Melanocytic nevus	2	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0011355	HP:0001482	Subcutaneous nodule	2	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		102
HP:0011355	HP:0000995	Melanocytic nevus	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0011355	HP:0000995	Melanocytic nevus	2	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital			102
HP:0011355	HP:0025510	Nevus spilus	2	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.		102
HP:0011355	HP:0000995	Melanocytic nevus	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic			102
HP:0011355	HP:0000995	Melanocytic nevus	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		102
HP:0011355	HP:0001034	Hypermelanotic macule	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011355	HP:0010816	Epidermal nevus	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0011355	HP:0000960	Sacral dimple	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011355	HP:0000384	Preauricular skin tag	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0000960	Sacral dimple	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0011355	HP:0000960	Sacral dimple	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0011355	HP:0001057	Aplasia cutis congenita	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0001057	Aplasia cutis congenita	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0100277	Periauricular skin pits	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0010816	Epidermal nevus	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0011355	HP:0000960	Sacral dimple	2	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0011355	HP:0031917	Digital ulcer	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0011355	HP:0000960	Sacral dimple	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0011355	HP:0001052	Nevus flammeus	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0011355	HP:0000995	Melanocytic nevus	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0011355	HP:0001482	Subcutaneous nodule	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0011355	HP:0000384	Preauricular skin tag	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0000960	Sacral dimple	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0100267	Lip pit	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0011355	HP:0000963	Thin skin	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0011355	HP:0000960	Sacral dimple	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0011355	HP:0000960	Sacral dimple	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	OTULIN CL E G H	90268	25118	OMIM:619986				3
HP:0011355	HP:0000960	Sacral dimple	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional		231
HP:0011355	HP:0001034	Hypermelanotic macule	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0011355	HP:0001034	Hypermelanotic macule	2	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0011355	HP:0001034	Hypermelanotic macule	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		26
HP:0011355	HP:0004334	Dermal atrophy	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		26
HP:0011355	HP:0100277	Periauricular skin pits	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0011355	HP:0100277	Periauricular skin pits	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0011355	HP:0001054	Numerous nevi	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011355	HP:0001034	Hypermelanotic macule	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011355	HP:0001034	Hypermelanotic macule	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0011355	HP:0010874	Tendon xanthomatosis	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		178
HP:0011355	HP:0001114	Xanthelasma	2	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3			178
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3			178
HP:0011355	HP:0010874	Tendon xanthomatosis	2	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3			178
HP:0011355	HP:0001034	Hypermelanotic macule	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent		13
HP:0011355	HP:0001074	Atypical nevi in non-sun exposed areas	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011355	HP:0100814	Blue nevus	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent		13
HP:0011355	HP:0004334	Dermal atrophy	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011355	HP:0000963	Thin skin	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0011355	HP:0004334	Dermal atrophy	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0011355	HP:0000963	Thin skin	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		13
HP:0011355	HP:0004334	Dermal atrophy	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0011355	HP:0000995	Melanocytic nevus	2	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional		113
HP:0011355	HP:0000963	Thin skin	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		75
HP:0011355	HP:0004334	Dermal atrophy	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0011355	HP:0001482	Subcutaneous nodule	2	PDGFB CL E G H	5155	8800	ORPHA:31112	Dermatofibrosarcoma protuberans	HP:0040281 - Very frequent		9
HP:0011355	HP:0001482	Subcutaneous nodule	2	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		28
HP:0011355	HP:0000963	Thin skin	2	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.		28
HP:0011355	HP:0000963	Thin skin	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent		66
HP:0011355	HP:0001034	Hypermelanotic macule	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0011355	HP:0001034	Hypermelanotic macule	2	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011355	HP:0000960	Sacral dimple	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0011355	HP:0001057	Aplasia cutis congenita	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0011355	HP:0007441	Hyperpigmented/hypopigmented macules	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0011355	HP:0000384	Preauricular skin tag	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011355	HP:0000995	Melanocytic nevus	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0011355	HP:0001034	Hypermelanotic macule	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011355	HP:0001482	Subcutaneous nodule	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		162
HP:0011355	HP:0000995	Melanocytic nevus	2	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic	.		162
HP:0011355	HP:0001054	Numerous nevi	2	PIK3CA CL E G H	5290	8975	OMIM:162900	Epidermal nevus, somatic	.		162
HP:0011355	HP:0010816	Epidermal nevus	2	PIK3CA CL E G H	5290	8975	OMIM:182000	KERATOSIS, SEBORRHEIC			162
HP:0011355	HP:0001034	Hypermelanotic macule	2	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent		162
HP:0011355	HP:0001052	Nevus flammeus	2	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040281 - Very frequent		162
HP:0011355	HP:0000963	Thin skin	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0011355	HP:0001034	Hypermelanotic macule	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011355	HP:0000384	Preauricular skin tag	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0011355	HP:0100277	Periauricular skin pits	2	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent		82
HP:0011355	HP:0001057	Aplasia cutis congenita	2	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita			759
HP:0011355	HP:0007383	Congenital localized absence of skin	2	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent		759
HP:0011355	HP:0004334	Dermal atrophy	2	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040282 - Frequent		759
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.		759
HP:0011355	HP:0001057	Aplasia cutis congenita	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent		759
HP:0011355	HP:0001057	Aplasia cutis congenita	2	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011355	HP:0001075	Atrophic scars	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0011355	HP:0004334	Dermal atrophy	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0011355	HP:0001057	Aplasia cutis congenita	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0011355	HP:0001075	Atrophic scars	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0011355	HP:0004334	Dermal atrophy	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0011355	HP:0001034	Hypermelanotic macule	2	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent		759
HP:0011355	HP:0020073	Hypopigmented macule	2	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent		759
HP:0011355	HP:0000963	Thin skin	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0011355	HP:0001075	Atrophic scars	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent		105
HP:0011355	HP:0004334	Dermal atrophy	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0011355	HP:0001052	Nevus flammeus	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0011355	HP:0001034	Hypermelanotic macule	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0011355	HP:0001034	Hypermelanotic macule	2	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011355	HP:0001034	Hypermelanotic macule	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0200040	Epidermoid cyst	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		2
HP:0011355	HP:0020073	Hypopigmented macule	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		2
HP:0011355	HP:0025473	Hyperpigmented papule	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0010610	Palmar pits	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		2
HP:0011355	HP:0045059	Hyperkeratotic papule	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0030350	Erythematous papule	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0031293	Digital pitting scar	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0020073	Hypopigmented macule	2	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2			2
HP:0011355	HP:0045059	Hyperkeratotic papule	2	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2			2
HP:0011355	HP:0001034	Hypermelanotic macule	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		6
HP:0011355	HP:0200040	Epidermoid cyst	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		6
HP:0011355	HP:0020073	Hypopigmented macule	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		6
HP:0011355	HP:0025473	Hyperpigmented papule	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		6
HP:0011355	HP:0010610	Palmar pits	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		6
HP:0011355	HP:0045059	Hyperkeratotic papule	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		6
HP:0011355	HP:0030350	Erythematous papule	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		6
HP:0011355	HP:0031293	Digital pitting scar	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		6
HP:0011355	HP:0000960	Sacral dimple	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0011355	HP:0004334	Dermal atrophy	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0011355	HP:0004334	Dermal atrophy	2	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent		155
HP:0011355	HP:0004334	Dermal atrophy	2	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.		155
HP:0011355	HP:0000384	Preauricular skin tag	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000384	Preauricular skin tag	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0011355	HP:0100277	Periauricular skin pits	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0011355	HP:0000384	Preauricular skin tag	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0011355	HP:0000963	Thin skin	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0011355	HP:0000963	Thin skin	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0011355	HP:0001482	Subcutaneous nodule	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0011355	HP:0000963	Thin skin	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0011355	HP:0001482	Subcutaneous nodule	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0011355	HP:0004334	Dermal atrophy	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0011355	HP:0004334	Dermal atrophy	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0011355	HP:0007510	Focal dermal aplasia/hypoplasia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0011355	HP:0000963	Thin skin	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040282 - Frequent		42
HP:0011355	HP:0000963	Thin skin	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011355	HP:0001034	Hypermelanotic macule	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011355	HP:0100277	Periauricular skin pits	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011355	HP:0001114	Xanthelasma	2	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1			2
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1			2
HP:0011355	HP:0010874	Tendon xanthomatosis	2	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1			2
HP:0011355	HP:0000963	Thin skin	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		2
HP:0011355	HP:0004334	Dermal atrophy	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0011355	HP:0000995	Melanocytic nevus	2	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040283 - Occasional		134
HP:0011355	HP:0000995	Melanocytic nevus	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0011355	HP:0004334	Dermal atrophy	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0011355	HP:0001034	Hypermelanotic macule	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent		134
HP:0011355	HP:0001074	Atypical nevi in non-sun exposed areas	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011355	HP:0100814	Blue nevus	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent		134
HP:0011355	HP:0004334	Dermal atrophy	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011355	HP:0001034	Hypermelanotic macule	2	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0011355	HP:0000963	Thin skin	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0011355	HP:0004334	Dermal atrophy	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0011355	HP:0000963	Thin skin	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		134
HP:0011355	HP:0004334	Dermal atrophy	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0011355	HP:0025475	Erythematous macule	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0011355	HP:0000963	Thin skin	2	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0011355	HP:0000384	Preauricular skin tag	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional		6
HP:0011355	HP:0000963	Thin skin	2	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040282 - Frequent		65
HP:0011355	HP:0000963	Thin skin	2	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent		75
HP:0011355	HP:0000960	Sacral dimple	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0011355	HP:0001034	Hypermelanotic macule	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0200040	Epidermoid cyst	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		2
HP:0011355	HP:0020073	Hypopigmented macule	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		2
HP:0011355	HP:0025473	Hyperpigmented papule	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0010610	Palmar pits	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare		2
HP:0011355	HP:0045059	Hyperkeratotic papule	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0030350	Erythematous papule	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0031293	Digital pitting scar	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0011355	HP:0000960	Sacral dimple	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0011355	HP:0010610	Palmar pits	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011355	HP:0010612	Plantar pits	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0011355	HP:0000995	Melanocytic nevus	2	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent		665
HP:0011355	HP:0010610	Palmar pits	2	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent		665
HP:0011355	HP:0010612	Plantar pits	2	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent		665
HP:0011355	HP:0010610	Palmar pits	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0011355	HP:0010612	Plantar pits	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0011355	HP:0010610	Palmar pits	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011355	HP:0010612	Plantar pits	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0011355	HP:0000995	Melanocytic nevus	2	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent		40
HP:0011355	HP:0010610	Palmar pits	2	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent		40
HP:0011355	HP:0010612	Plantar pits	2	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent		40
HP:0011355	HP:0000963	Thin skin	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0011355	HP:0001034	Hypermelanotic macule	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0011355	HP:0001482	Subcutaneous nodule	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040282 - Frequent		948
HP:0011355	HP:0000995	Melanocytic nevus	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0011355	HP:0001034	Hypermelanotic macule	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011355	HP:0001482	Subcutaneous nodule	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		948
HP:0011355	HP:0200016	Acrokeratosis	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0011355	HP:0200016	Acrokeratosis	2	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040282 - Frequent		948
HP:0011355	HP:0000995	Melanocytic nevus	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0011355	HP:0001034	Hypermelanotic macule	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011355	HP:0001482	Subcutaneous nodule	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0011355	HP:0010816	Epidermal nevus	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent		948
HP:0011355	HP:0100898	Connective tissue nevi	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0011355	HP:0010816	Epidermal nevus	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent		948
HP:0011355	HP:0001482	Subcutaneous nodule	2	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent		948
HP:0011355	HP:0001482	Subcutaneous nodule	2	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040282 - Frequent		58
HP:0011355	HP:0001034	Hypermelanotic macule	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0011355	HP:0000995	Melanocytic nevus	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		291
HP:0011355	HP:0001034	Hypermelanotic macule	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011355	HP:0000995	Melanocytic nevus	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0011355	HP:0001034	Hypermelanotic macule	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0011355	HP:0001482	Subcutaneous nodule	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		291
HP:0011355	HP:0001052	Nevus flammeus	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011355	HP:0001052	Nevus flammeus	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0011355	HP:0100814	Blue nevus	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0000963	Thin skin	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.		53
HP:0011355	HP:0000963	Thin skin	2	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		53
HP:0011355	HP:0000960	Sacral dimple	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011355	HP:0100277	Periauricular skin pits	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011355	HP:0001034	Hypermelanotic macule	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0011355	HP:0001034	Hypermelanotic macule	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0011355	HP:0001034	Hypermelanotic macule	2	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0011355	HP:0000995	Melanocytic nevus	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		212
HP:0011355	HP:0001034	Hypermelanotic macule	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011355	HP:0000995	Melanocytic nevus	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0011355	HP:0001034	Hypermelanotic macule	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0011355	HP:0001482	Subcutaneous nodule	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		212
HP:0011355	HP:0020073	Hypopigmented macule	2	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		88
HP:0011355	HP:0025474	Erythematous plaque	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent		88
HP:0011355	HP:0000995	Melanocytic nevus	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		3
HP:0011355	HP:0001034	Hypermelanotic macule	2	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0011355	HP:0000963	Thin skin	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0011355	HP:0000995	Melanocytic nevus	2	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0011355	HP:0000995	Melanocytic nevus	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0011355	HP:0001052	Nevus flammeus	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0011355	HP:0001052	Nevus flammeus	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011355	HP:0001057	Aplasia cutis congenita	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent		3
HP:0011355	HP:0001057	Aplasia cutis congenita	2	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	.		3
HP:0011355	HP:0004334	Dermal atrophy	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent		445
HP:0011355	HP:0004334	Dermal atrophy	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0011355	HP:0001034	Hypermelanotic macule	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011355	HP:0001034	Hypermelanotic macule	2	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA			572
HP:0011355	HP:0031917	Digital ulcer	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0011355	HP:0031917	Digital ulcer	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0011355	HP:0001034	Hypermelanotic macule	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0011355	HP:0000960	Sacral dimple	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0001034	Hypermelanotic macule	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0011355	HP:0100267	Lip pit	2	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome			69
HP:0011355	HP:0100267	Lip pit	2	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS			69
HP:0011355	HP:0000995	Melanocytic nevus	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		39
HP:0011355	HP:0000960	Sacral dimple	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional		37
HP:0011355	HP:0000960	Sacral dimple	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0011355	HP:0001052	Nevus flammeus	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0011355	HP:0001052	Nevus flammeus	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0011355	HP:0000960	Sacral dimple	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0011355	HP:0000995	Melanocytic nevus	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000995	Melanocytic nevus	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0001034	Hypermelanotic macule	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		77
HP:0011355	HP:0004334	Dermal atrophy	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		77
HP:0011355	HP:0000384	Preauricular skin tag	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent		124
HP:0011355	HP:0001482	Subcutaneous nodule	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent		124
HP:0011355	HP:0000384	Preauricular skin tag	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0011355	HP:0100277	Periauricular skin pits	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0011355	HP:0000384	Preauricular skin tag	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0011355	HP:0007441	Hyperpigmented/hypopigmented macules	2	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria	.		1
HP:0011355	HP:0000963	Thin skin	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0011355	HP:0001026	Penetrating foot ulcers	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0011355	HP:0000960	Sacral dimple	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0011355	HP:0031917	Digital ulcer	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0011355	HP:0000995	Melanocytic nevus	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0011355	HP:0001034	Hypermelanotic macule	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011355	HP:0001482	Subcutaneous nodule	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		237
HP:0011355	HP:0001034	Hypermelanotic macule	2	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA			237
HP:0011355	HP:0000995	Melanocytic nevus	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0011355	HP:0001034	Hypermelanotic macule	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011355	HP:0001482	Subcutaneous nodule	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		147
HP:0011355	HP:0025474	Erythematous plaque	2	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent		129
HP:0011355	HP:0000995	Melanocytic nevus	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0011355	HP:0001034	Hypermelanotic macule	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011355	HP:0001482	Subcutaneous nodule	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		129
HP:0011355	HP:0001034	Hypermelanotic macule	2	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA			129
HP:0011355	HP:0000995	Melanocytic nevus	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0011355	HP:0001034	Hypermelanotic macule	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011355	HP:0001482	Subcutaneous nodule	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		60
HP:0011355	HP:0000384	Preauricular skin tag	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0011355	HP:0000384	Preauricular skin tag	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional		6
HP:0011355	HP:0001034	Hypermelanotic macule	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011355	HP:0001034	Hypermelanotic macule	2	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome			143
HP:0011355	HP:0001052	Nevus flammeus	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0011355	HP:0000960	Sacral dimple	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011355	HP:0000384	Preauricular skin tag	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0011355	HP:0000384	Preauricular skin tag	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0011355	HP:0001034	Hypermelanotic macule	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011355	HP:0000960	Sacral dimple	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent		53
HP:0011355	HP:0000960	Sacral dimple	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011355	HP:0001034	Hypermelanotic macule	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011355	HP:0000384	Preauricular skin tag	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		50
HP:0011355	HP:0000384	Preauricular skin tag	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional		50
HP:0011355	HP:0100267	Lip pit	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional		50
HP:0011355	HP:0100277	Periauricular skin pits	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0011355	HP:0000384	Preauricular skin tag	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3	.		50
HP:0011355	HP:0100267	Lip pit	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0011355	HP:0100277	Periauricular skin pits	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0011355	HP:0000384	Preauricular skin tag	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.		50
HP:0011355	HP:0100277	Periauricular skin pits	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0011355	HP:0100277	Periauricular skin pits	2	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23			50
HP:0011355	HP:0000384	Preauricular skin tag	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		10
HP:0011355	HP:0000384	Preauricular skin tag	2	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2	.		10
HP:0011355	HP:0001034	Hypermelanotic macule	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0011355	HP:0001034	Hypermelanotic macule	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0011355	HP:0001034	Hypermelanotic macule	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011355	HP:0100898	Connective tissue nevi	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0011355	HP:0001052	Nevus flammeus	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0011355	HP:0000963	Thin skin	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent		178
HP:0011355	HP:0001114	Xanthelasma	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0011355	HP:0001114	Xanthelasma	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0011355	HP:0001114	Xanthelasma	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0011355	HP:0000963	Thin skin	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.		24
HP:0011355	HP:0001075	Atrophic scars	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0011355	HP:0004334	Dermal atrophy	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0011355	HP:0000963	Thin skin	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		24
HP:0011355	HP:0001034	Hypermelanotic macule	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0011355	HP:0001034	Hypermelanotic macule	2	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P			274
HP:0011355	HP:0004334	Dermal atrophy	2	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0011355	HP:0004334	Dermal atrophy	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0011355	HP:0001075	Atrophic scars	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0011355	HP:0004334	Dermal atrophy	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0011355	HP:0000384	Preauricular skin tag	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011355	HP:0001034	Hypermelanotic macule	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011355	HP:0000963	Thin skin	2	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040281 - Very frequent		6
HP:0011355	HP:0001034	Hypermelanotic macule	2	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome			6
HP:0011355	HP:0001034	Hypermelanotic macule	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0011355	HP:0001034	Hypermelanotic macule	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent		74
HP:0011355	HP:0001052	Nevus flammeus	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011355	HP:0000960	Sacral dimple	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0011355	HP:0100267	Lip pit	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011355	HP:0010816	Epidermal nevus	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011355	HP:0000384	Preauricular skin tag	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0011355	HP:0000995	Melanocytic nevus	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		315
HP:0011355	HP:0000995	Melanocytic nevus	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		30
HP:0011355	HP:0001034	Hypermelanotic macule	2	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E			61
HP:0011355	HP:0000963	Thin skin	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0011355	HP:0004334	Dermal atrophy	2	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040283 - Occasional		7
HP:0011355	HP:0032538	Pretibial dimple	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011355	HP:0100277	Periauricular skin pits	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011355	HP:0020073	Hypopigmented macule	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0011355	HP:0100277	Periauricular skin pits	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0011355	HP:0004334	Dermal atrophy	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011355	HP:0000960	Sacral dimple	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011355	HP:0001034	Hypermelanotic macule	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0001034	Hypermelanotic macule	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011355	HP:0001114	Xanthelasma	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0000995	Melanocytic nevus	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000995	Melanocytic nevus	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011355	HP:0001026	Penetrating foot ulcers	2	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		54
HP:0011355	HP:0031917	Digital ulcer	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0011355	HP:0001026	Penetrating foot ulcers	2	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		149
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0011355	HP:0001034	Hypermelanotic macule	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0011355	HP:0000384	Preauricular skin tag	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0011355	HP:0100277	Periauricular skin pits	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0011355	HP:0001482	Subcutaneous nodule	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0011355	HP:0001034	Hypermelanotic macule	2	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0011355	HP:0001034	Hypermelanotic macule	2	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0011355	HP:0001054	Numerous nevi	2	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.		740
HP:0011355	HP:0001062	Atypical nevus	2	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.		740
HP:0011355	HP:0001074	Atypical nevi in non-sun exposed areas	2	STK11 CL E G H	6794	11389	OMIM:155600	Melanoma, cutaneous malignant	.		740
HP:0011355	HP:0001034	Hypermelanotic macule	2	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0011355	HP:0001034	Hypermelanotic macule	2	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.		740
HP:0011355	HP:0000960	Sacral dimple	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0010610	Palmar pits	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011355	HP:0010612	Plantar pits	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0011355	HP:0000995	Melanocytic nevus	2	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent		124
HP:0011355	HP:0010610	Palmar pits	2	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent		124
HP:0011355	HP:0010612	Plantar pits	2	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent		124
HP:0011355	HP:0000960	Sacral dimple	2	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional		8
HP:0011355	HP:0000995	Melanocytic nevus	2	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0011355	HP:0000384	Preauricular skin tag	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011355	HP:0001034	Hypermelanotic macule	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011355	HP:0100277	Periauricular skin pits	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0011355	HP:0025247	Dermoid cyst	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0000960	Sacral dimple	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011355	HP:0001057	Aplasia cutis congenita	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0011355	HP:0000384	Preauricular skin tag	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011355	HP:0100814	Blue nevus	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011355	HP:0000960	Sacral dimple	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0100277	Periauricular skin pits	2	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0011355	HP:0100277	Periauricular skin pits	2	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0011355	HP:0000960	Sacral dimple	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0011355	HP:0000960	Sacral dimple	2	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0011355	HP:0000960	Sacral dimple	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		82
HP:0011355	HP:0000384	Preauricular skin tag	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0011355	HP:0000384	Preauricular skin tag	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0011355	HP:0001482	Subcutaneous nodule	2	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040282 - Frequent		78
HP:0011355	HP:0001052	Nevus flammeus	2	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent		78
HP:0011355	HP:0001034	Hypermelanotic macule	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		48
HP:0011355	HP:0004334	Dermal atrophy	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0011355	HP:0004334	Dermal atrophy	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0011355	HP:0001034	Hypermelanotic macule	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		238
HP:0011355	HP:0004334	Dermal atrophy	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0011355	HP:0004334	Dermal atrophy	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		238
HP:0011355	HP:0100267	Lip pit	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011355	HP:0100277	Periauricular skin pits	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011355	HP:0001057	Aplasia cutis congenita	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011355	HP:0100267	Lip pit	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011355	HP:0100277	Periauricular skin pits	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011355	HP:0004334	Dermal atrophy	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011355	HP:0025247	Dermoid cyst	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011355	HP:0004334	Dermal atrophy	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0011355	HP:0001052	Nevus flammeus	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0011355	HP:0000963	Thin skin	2	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional		239
HP:0011355	HP:0004334	Dermal atrophy	2	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome			239
HP:0011355	HP:0000963	Thin skin	2	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040283 - Occasional		253
HP:0011355	HP:0004334	Dermal atrophy	2	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome			253
HP:0011355	HP:0004334	Dermal atrophy	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0011355	HP:0000995	Melanocytic nevus	2	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040282 - Frequent		23
HP:0011355	HP:0001034	Hypermelanotic macule	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		60
HP:0011355	HP:0004334	Dermal atrophy	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0011355	HP:0004334	Dermal atrophy	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		60
HP:0011355	HP:0001482	Subcutaneous nodule	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		3
HP:0011355	HP:0001034	Hypermelanotic macule	2	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis			10
HP:0011355	HP:0001034	Hypermelanotic macule	2	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis			4
HP:0011355	HP:0000960	Sacral dimple	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011355	HP:0001034	Hypermelanotic macule	2	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA			131
HP:0011355	HP:0000384	Preauricular skin tag	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0011355	HP:0000960	Sacral dimple	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0000963	Thin skin	2	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		5
HP:0011355	HP:0000995	Melanocytic nevus	2	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional		72
HP:0011355	HP:0001482	Subcutaneous nodule	2	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional		72
HP:0011355	HP:0000995	Melanocytic nevus	2	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional		44
HP:0011355	HP:0001482	Subcutaneous nodule	2	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040283 - Occasional		44
HP:0011355	HP:0001034	Hypermelanotic macule	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0011355	HP:0000963	Thin skin	2	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent		134
HP:0011355	HP:0001034	Hypermelanotic macule	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0011355	HP:0004334	Dermal atrophy	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0011355	HP:0000963	Thin skin	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		911
HP:0011355	HP:0004334	Dermal atrophy	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011355	HP:0000963	Thin skin	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0011355	HP:0000963	Thin skin	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent		140
HP:0011355	HP:0000995	Melanocytic nevus	2	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent		140
HP:0011355	HP:0004334	Dermal atrophy	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0011355	HP:0100267	Lip pit	2	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0040283 - Occasional		140
HP:0011355	HP:0100267	Lip pit	2	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent		140
HP:0011355	HP:0001034	Hypermelanotic macule	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011355	HP:0000963	Thin skin	2	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0011355	HP:0000963	Thin skin	2	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent
HP:0011355	HP:0001052	Nevus flammeus	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0011355	HP:0001034	Hypermelanotic macule	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011355	HP:0001034	Hypermelanotic macule	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0011355	HP:0025474	Erythematous plaque	2	TRPM4 CL E G H	54795	17993	OMIM:618531	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6			124
HP:0011355	HP:0100898	Connective tissue nevi	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0011355	HP:0100898	Connective tissue nevi	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011355	HP:0200040	Epidermoid cyst	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0011355	HP:0020073	Hypopigmented macule	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0011355	HP:0001034	Hypermelanotic macule	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011355	HP:0001482	Subcutaneous nodule	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011355	HP:0100898	Connective tissue nevi	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011355	HP:0020073	Hypopigmented macule	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0011355	HP:0100898	Connective tissue nevi	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0011355	HP:0100898	Connective tissue nevi	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011355	HP:0200040	Epidermoid cyst	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0011355	HP:0020073	Hypopigmented macule	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0011355	HP:0001034	Hypermelanotic macule	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011355	HP:0001482	Subcutaneous nodule	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011355	HP:0100898	Connective tissue nevi	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011355	HP:0020073	Hypopigmented macule	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011355	HP:0001114	Xanthelasma	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.		62
HP:0011355	HP:0010732	Nodular changes affecting the eyelids	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0011355	HP:0010874	Tendon xanthomatosis	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.		62
HP:0011355	HP:0000963	Thin skin	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0011355	HP:0000963	Thin skin	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0011355	HP:0004334	Dermal atrophy	2	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.		7
HP:0011355	HP:0001034	Hypermelanotic macule	2	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011355	HP:0000384	Preauricular skin tag	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0011355	HP:0001034	Hypermelanotic macule	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		1
HP:0011355	HP:0000995	Melanocytic nevus	2	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent		146
HP:0011355	HP:0100814	Blue nevus	2	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040283 - Occasional		62
HP:0011355	HP:0001057	Aplasia cutis congenita	2	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011355	HP:0001057	Aplasia cutis congenita	2	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0011355	HP:0007383	Congenital localized absence of skin	2	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent
HP:0011355	HP:0001482	Subcutaneous nodule	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0011355	HP:0005590	Spotty hypopigmentation	2	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN			7
HP:0011355	HP:0100277	Periauricular skin pits	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0011355	HP:0001034	Hypermelanotic macule	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0011355	HP:0000384	Preauricular skin tag	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011355	HP:0000963	Thin skin	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011355	HP:0000384	Preauricular skin tag	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0011355	HP:0001034	Hypermelanotic macule	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011355	HP:0001057	Aplasia cutis congenita	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0011355	HP:0004552	Scarring alopecia of scalp	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0011355	HP:0001034	Hypermelanotic macule	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		8
HP:0011355	HP:0004334	Dermal atrophy	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0011355	HP:0000995	Melanocytic nevus	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0001034	Hypermelanotic macule	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0001482	Subcutaneous nodule	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0000963	Thin skin	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		1
HP:0011355	HP:0004334	Dermal atrophy	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011355	HP:0000963	Thin skin	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent		7
HP:0011355	HP:0004334	Dermal atrophy	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011355	HP:0000963	Thin skin	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0011355	HP:0004334	Dermal atrophy	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0011355	HP:0000960	Sacral dimple	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0011355	HP:0000960	Sacral dimple	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0011355	HP:0000960	Sacral dimple	2	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.		111
HP:0011355	HP:0025247	Dermoid cyst	2	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.		111
HP:0011355	HP:0000960	Sacral dimple	2	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.		2
HP:0011355	HP:0001034	Hypermelanotic macule	2	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA			490
HP:0011355	HP:0000384	Preauricular skin tag	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0011355	HP:0000960	Sacral dimple	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0011355	HP:0001052	Nevus flammeus	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0011355	HP:0001034	Hypermelanotic macule	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011355	HP:0000384	Preauricular skin tag	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0011355	HP:0000384	Preauricular skin tag	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011355	HP:0001034	Hypermelanotic macule	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011355	HP:0100277	Periauricular skin pits	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011355	HP:0025452	Pyoderma gangrenosum	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0011355	HP:0000384	Preauricular skin tag	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011355	HP:0000960	Sacral dimple	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0011355	HP:0031917	Digital ulcer	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0011355	HP:0000963	Thin skin	2	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0011355	HP:0000960	Sacral dimple	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0011355	HP:0001052	Nevus flammeus	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0011355	HP:0000960	Sacral dimple	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0011355	HP:0001052	Nevus flammeus	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0011355	HP:0001034	Hypermelanotic macule	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent		40
HP:0011355	HP:0000963	Thin skin	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0011355	HP:0000995	Melanocytic nevus	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		34
HP:0011355	HP:0001034	Hypermelanotic macule	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		34
HP:0011355	HP:0004334	Dermal atrophy	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		34
HP:0011355	HP:0004334	Dermal atrophy	2	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0011355	HP:0000963	Thin skin	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0011355	HP:0000995	Melanocytic nevus	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		86
HP:0011355	HP:0001034	Hypermelanotic macule	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		86
HP:0011355	HP:0004334	Dermal atrophy	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent		86
HP:0011355	HP:0004334	Dermal atrophy	2	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.		86
HP:0011355	HP:0001034	Hypermelanotic macule	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0011355	HP:0025507	Yellow papule	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0011355	HP:0025507	Yellow papule	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0011355	HP:0100277	Periauricular skin pits	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0011355	HP:0000960	Sacral dimple	2	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional		14
HP:0011355	HP:0001034	Hypermelanotic macule	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0011355	HP:0100277	Periauricular skin pits	2	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0011355	HP:0100277	Periauricular skin pits	2	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0011355	HP:0000960	Sacral dimple	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0011355	HP:0001034	Hypermelanotic macule	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0011355	HP:0004334	Dermal atrophy	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0011355	HP:0000963	Thin skin	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0011355	HP:0004334	Dermal atrophy	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0011355	HP:0004334	Dermal atrophy	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0011355	HP:0004334	Dermal atrophy	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0011355	HP:0000963	Thin skin	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0011355	HP:0100277	Periauricular skin pits	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011355	HP:0000960	Sacral dimple	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011355	HP:0004334	Dermal atrophy	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0011355	HP:0025247	Dermoid cyst	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040284 - Very rare		5
HP:0011355	HP:0005606	Hyperpigmented nevi and streak	3	CL E G H
HP:0011355	HP:0007506	Congenital absence of skin of limbs	3	CL E G H
HP:0011355	HP:0007616	Nevus flammeus nuchae	3	CL E G H
HP:0011355	HP:0010604	Cyst of the eyelid	3	CL E G H
HP:0011355	HP:0010606	Hordeolum	3	CL E G H
HP:0011355	HP:0012540	Axillary epidermoid cyst	3	CL E G H
HP:0011355	HP:0034275	Verrucous epidermal nevus	3	CL E G H
HP:0011355	HP:0001114	Xanthelasma	3	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency			191
HP:0011355	HP:0000957	Cafe-au-lait spot	3	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria			20
HP:0011355	HP:0001065	Striae distensae	3	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent		415
HP:0011355	HP:0000957	Cafe-au-lait spot	3	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0011355	HP:0001114	Xanthelasma	3	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0011355	HP:0001075	Atrophic scars	3	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0011355	HP:0001075	Atrophic scars	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0011355	HP:0031158	Widened atrophic scar	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0011355	HP:0001075	Atrophic scars	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0011355	HP:0001065	Striae distensae	3	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0011355	HP:0000957	Cafe-au-lait spot	3	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0011355	HP:0000957	Cafe-au-lait spot	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		132
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	.		132
HP:0011355	HP:0000957	Cafe-au-lait spot	3	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0011355	HP:0004467	Preauricular pit	3	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent		150
HP:0011355	HP:0000957	Cafe-au-lait spot	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional		3179
HP:0011355	HP:0001114	Xanthelasma	3	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency			40
HP:0011355	HP:0001114	Xanthelasma	3	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1			9
HP:0011355	HP:0001114	Xanthelasma	3	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2	.		356
HP:0011355	HP:0001114	Xanthelasma	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011355	HP:0007589	Aplasia cutis congenita on trunk or limbs	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0011355	HP:0000957	Cafe-au-lait spot	3	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0011355	HP:0001065	Striae distensae	3	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0011355	HP:0007470	Periarticular subcutaneous nodules	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040281 - Very frequent		78
HP:0011355	HP:0007470	Periarticular subcutaneous nodules	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0011355	HP:0010733	Naevus flammeus of the eyelid	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0011355	HP:0007413	Nevus flammeus of the forehead	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011355	HP:0000957	Cafe-au-lait spot	3	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0011355	HP:0000957	Cafe-au-lait spot	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0011355	HP:0001065	Striae distensae	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0011355	HP:0001075	Atrophic scars	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0011355	HP:0004467	Preauricular pit	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0011355	HP:0004467	Preauricular pit	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0011355	HP:0001075	Atrophic scars	3	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0011355	HP:0001075	Atrophic scars	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent		314
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita			1
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC			1
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011355	HP:0001003	Multiple lentigines	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0011355	HP:0001003	Multiple lentigines	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011355	HP:0001065	Striae distensae	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011355	HP:0001003	Multiple lentigines	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011355	HP:0001003	Multiple lentigines	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0011355	HP:0010815	Nevus sebaceous	3	BRAF CL E G H	673	1097	ORPHA:840	Syringocystadenoma papilliferum	HP:0040283 - Occasional		276
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0011355	HP:0000957	Cafe-au-lait spot	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011355	HP:0001075	Atrophic scars	3	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.		15
HP:0011355	HP:0001075	Atrophic scars	3	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		15
HP:0011355	HP:0001075	Atrophic scars	3	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent		7
HP:0011355	HP:0001075	Atrophic scars	3	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58			3
HP:0011355	HP:0000957	Cafe-au-lait spot	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0011355	HP:0006121	Acral ulceration	3	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040283 - Occasional		56
HP:0011355	HP:0006121	Acral ulceration	3	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.		56
HP:0011355	HP:0001065	Striae distensae	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0011355	HP:0007413	Nevus flammeus of the forehead	3	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0011355	HP:0007413	Nevus flammeus of the forehead	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0011355	HP:0005605	Large cafe-au-lait macules with irregular margins	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		2
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0011355	HP:0005605	Large cafe-au-lait macules with irregular margins	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		102
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional		102
HP:0011355	HP:0000957	Cafe-au-lait spot	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0011355	HP:0001065	Striae distensae	3	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0011355	HP:0005605	Large cafe-au-lait macules with irregular margins	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		1
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0011355	HP:0005605	Large cafe-au-lait macules with irregular margins	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011355	HP:0000957	Cafe-au-lait spot	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0011355	HP:0000957	Cafe-au-lait spot	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0011355	HP:0001075	Atrophic scars	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0011355	HP:0001075	Atrophic scars	3	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0011355	HP:0000957	Cafe-au-lait spot	3	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0011355	HP:0004467	Preauricular pit	3	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		5
HP:0011355	HP:0000957	Cafe-au-lait spot	3	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0011355	HP:0001075	Atrophic scars	3	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0011355	HP:0001075	Atrophic scars	3	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0011355	HP:0007412	Macular hyperpigmented dermopathy	3	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4			129
HP:0011355	HP:0001075	Atrophic scars	3	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		129
HP:0011355	HP:0001065	Striae distensae	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0011355	HP:0001075	Atrophic scars	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0011355	HP:0025014	Subcutaneous spheroids	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0011355	HP:0001075	Atrophic scars	3	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0011355	HP:0001075	Atrophic scars	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0011355	HP:0001075	Atrophic scars	3	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	HP:0040284 - Very rare		243
HP:0011355	HP:0001075	Atrophic scars	3	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.		243
HP:0011355	HP:0000957	Cafe-au-lait spot	3	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0011355	HP:0001075	Atrophic scars	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0011355	HP:0001075	Atrophic scars	3	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0011355	HP:0001075	Atrophic scars	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0011355	HP:0001065	Striae distensae	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		660
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		660
HP:0011355	HP:0001075	Atrophic scars	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		660
HP:0011355	HP:0025014	Subcutaneous spheroids	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0001075	Atrophic scars	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0025014	Subcutaneous spheroids	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0001065	Striae distensae	3	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0011355	HP:0001075	Atrophic scars	3	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF			660
HP:0011355	HP:0001065	Striae distensae	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		325
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		325
HP:0011355	HP:0001075	Atrophic scars	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		325
HP:0011355	HP:0025014	Subcutaneous spheroids	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0001075	Atrophic scars	3	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0025014	Subcutaneous spheroids	3	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0011355	HP:0001075	Atrophic scars	3	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0011355	HP:0001075	Atrophic scars	3	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0011355	HP:0001073	Cigarette-paper scars	3	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0011355	HP:0001075	Atrophic scars	3	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0011355	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional		263
HP:0011355	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		263
HP:0011355	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa	HP:0040283 - Occasional		263
HP:0011355	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	OMIM:131750	Epidermolysis bullosa dystrophica, autosomal dominant	.		263
HP:0011355	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0011355	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form	HP:0040282 - Frequent		263
HP:0011355	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent		263
HP:0011355	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040282 - Frequent		263
HP:0011355	HP:0001075	Atrophic scars	3	COL7A1 CL E G H	1294	2214	OMIM:131705	Transient bullous dermolysis of the newborn	.		263
HP:0011355	HP:0000957	Cafe-au-lait spot	3	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011355	HP:0001065	Striae distensae	3	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0011355	HP:0004467	Preauricular pit	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0000957	Cafe-au-lait spot	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.		291
HP:0011355	HP:0004467	Preauricular pit	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0011355	HP:0001065	Striae distensae	3	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0011355	HP:0001073	Cigarette-paper scars	3	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0011355	HP:0001075	Atrophic scars	3	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0011355	HP:0001065	Striae distensae	3	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.		38
HP:0011355	HP:0000957	Cafe-au-lait spot	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0011355	HP:0000957	Cafe-au-lait spot	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011355	HP:0001114	Xanthelasma	3	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0011355	HP:0010733	Naevus flammeus of the eyelid	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional		164
HP:0011355	HP:0001065	Striae distensae	3	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62			2
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.		9
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita			9
HP:0011355	HP:0001075	Atrophic scars	3	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0011355	HP:0001003	Multiple lentigines	3	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent		13
HP:0011355	HP:0001003	Multiple lentigines	3	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0011355	HP:0010733	Naevus flammeus of the eyelid	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0011355	HP:0010733	Naevus flammeus of the eyelid	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0011355	HP:0004467	Preauricular pit	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional		3
HP:0011355	HP:0004467	Preauricular pit	3	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0011355	HP:0001065	Striae distensae	3	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040282 - Frequent		151
HP:0011355	HP:0000957	Cafe-au-lait spot	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.		250
HP:0011355	HP:0001114	Xanthelasma	3	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1			1
HP:0011355	HP:0000957	Cafe-au-lait spot	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0011355	HP:0000957	Cafe-au-lait spot	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0011355	HP:0004467	Preauricular pit	3	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent		135
HP:0011355	HP:0004467	Preauricular pit	3	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0011355	HP:0004467	Preauricular pit	3	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0011355	HP:0004467	Preauricular pit	3	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.		135
HP:0011355	HP:0004467	Preauricular pit	3	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.		53
HP:0011355	HP:0000957	Cafe-au-lait spot	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0011355	HP:0001065	Striae distensae	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0011355	HP:0001065	Striae distensae	3	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0011355	HP:0001065	Striae distensae	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0011355	HP:0007488	Diffuse skin atrophy	3	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.		136
HP:0011355	HP:0004467	Preauricular pit	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0011355	HP:0001075	Atrophic scars	3	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent		13
HP:0011355	HP:0004467	Preauricular pit	3	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0011355	HP:0004467	Preauricular pit	3	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		90
HP:0011355	HP:0010733	Naevus flammeus of the eyelid	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0011355	HP:0001114	Xanthelasma	3	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0011355	HP:0004467	Preauricular pit	3	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.		87
HP:0011355	HP:0004467	Preauricular pit	3	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		87
HP:0011355	HP:0004467	Preauricular pit	3	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		10
HP:0011355	HP:0004467	Preauricular pit	3	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		37
HP:0011355	HP:0004467	Preauricular pit	3	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.		37
HP:0011355	HP:0004467	Preauricular pit	3	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		28
HP:0011355	HP:0001114	Xanthelasma	3	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1			98
HP:0011355	HP:0004467	Preauricular pit	3	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		39
HP:0011355	HP:0000957	Cafe-au-lait spot	3	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0011355	HP:0001065	Striae distensae	3	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0011355	HP:0001065	Striae distensae	3	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0011355	HP:0005605	Large cafe-au-lait macules with irregular margins	3	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040281 - Very frequent		101
HP:0011355	HP:0005605	Large cafe-au-lait macules with irregular margins	3	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.		101
HP:0011355	HP:0000957	Cafe-au-lait spot	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011355	HP:0004464	Postauricular pit	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011355	HP:0004467	Preauricular pit	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0011355	HP:0004464	Postauricular pit	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011355	HP:0004467	Preauricular pit	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011355	HP:0100269	Paramedian lip pit	3	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome			12
HP:0011355	HP:0004467	Preauricular pit	3	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0011355	HP:0007488	Diffuse skin atrophy	3	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional		53
HP:0011355	HP:0000957	Cafe-au-lait spot	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0011355	HP:0000957	Cafe-au-lait spot	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011355	HP:0004467	Preauricular pit	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011355	HP:0004467	Preauricular pit	3	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0011355	HP:0000957	Cafe-au-lait spot	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0011355	HP:0004467	Preauricular pit	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0011355	HP:0004467	Preauricular pit	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0011355	HP:0005600	Congenital giant melanocytic nevus	3	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.		113
HP:0011355	HP:0010815	Nevus sebaceous	3	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011355	HP:0010815	Nevus sebaceous	3	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0011355	HP:0007470	Periarticular subcutaneous nodules	3	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0011355	HP:0009719	Hypomelanotic macule	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent		23
HP:0011355	HP:0009721	Shagreen patch	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0011355	HP:0000957	Cafe-au-lait spot	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0011355	HP:0009719	Hypomelanotic macule	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011355	HP:0009721	Shagreen patch	3	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0011355	HP:0000957	Cafe-au-lait spot	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0011355	HP:0000957	Cafe-au-lait spot	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0011355	HP:0000957	Cafe-au-lait spot	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0011355	HP:0000957	Cafe-au-lait spot	3	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0011355	HP:0001065	Striae distensae	3	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0011355	HP:0100269	Paramedian lip pit	3	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0011355	HP:0100269	Paramedian lip pit	3	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome			99
HP:0011355	HP:0100269	Paramedian lip pit	3	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1			99
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0011355	HP:0007589	Aplasia cutis congenita on trunk or limbs	3	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6			79
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita			124
HP:0011355	HP:0001075	Atrophic scars	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0011355	HP:0007589	Aplasia cutis congenita on trunk or limbs	3	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0011355	HP:0001075	Atrophic scars	3	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0011355	HP:0007589	Aplasia cutis congenita on trunk or limbs	3	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0011355	HP:0001075	Atrophic scars	3	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		124
HP:0011355	HP:0004467	Preauricular pit	3	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		257
HP:0011355	HP:0004467	Preauricular pit	3	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.		257
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0011355	HP:0004467	Preauricular pit	3	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040283 - Occasional		34
HP:0011355	HP:0004467	Preauricular pit	3	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.		193
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0011355	HP:0004467	Preauricular pit	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0011355	HP:0100269	Paramedian lip pit	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.		9
HP:0011355	HP:0004467	Preauricular pit	3	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		40
HP:0011355	HP:0006121	Acral ulceration	3	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		276
HP:0011355	HP:0006121	Acral ulceration	3	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.		202
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KITLG CL E G H	4254	6343	OMIM:619947				9
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive			9
HP:0011355	HP:0001003	Multiple lentigines	3	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive			9
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0011355	HP:0004467	Preauricular pit	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0011355	HP:0000957	Cafe-au-lait spot	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011355	HP:0001003	Multiple lentigines	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0011355	HP:0010815	Nevus sebaceous	3	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0011355	HP:0009719	Hypomelanotic macule	3	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional		110
HP:0011355	HP:0001075	Atrophic scars	3	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0011355	HP:0007589	Aplasia cutis congenita on trunk or limbs	3	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0011355	HP:0001075	Atrophic scars	3	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0011355	HP:0007589	Aplasia cutis congenita on trunk or limbs	3	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional		110
HP:0011355	HP:0009719	Hypomelanotic macule	3	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		110
HP:0011355	HP:0001075	Atrophic scars	3	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	HP:0040283 - Occasional		110
HP:0011355	HP:0001075	Atrophic scars	3	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		110
HP:0011355	HP:0009719	Hypomelanotic macule	3	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional		173
HP:0011355	HP:0001075	Atrophic scars	3	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0011355	HP:0007589	Aplasia cutis congenita on trunk or limbs	3	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0011355	HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules	3	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.		173
HP:0011355	HP:0009719	Hypomelanotic macule	3	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent		173
HP:0011355	HP:0001075	Atrophic scars	3	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type	HP:0040283 - Occasional		173
HP:0011355	HP:0001075	Atrophic scars	3	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040284 - Very rare		173
HP:0011355	HP:0001075	Atrophic scars	3	LAMA3 CL E G H	3909	6483	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		116
HP:0011355	HP:0001075	Atrophic scars	3	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		116
HP:0011355	HP:0001075	Atrophic scars	3	LAMB3 CL E G H	3914	6490	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		167
HP:0011355	HP:0001075	Atrophic scars	3	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		167
HP:0011355	HP:0001075	Atrophic scars	3	LAMC2 CL E G H	3918	6493	OMIM:226700	Epidermolysis bullosa, junctional, Herlitz type	.		135
HP:0011355	HP:0001075	Atrophic scars	3	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent		135
HP:0011355	HP:0007413	Nevus flammeus of the forehead	3	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK			70
HP:0011355	HP:0001114	Xanthelasma	3	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1			2157
HP:0011355	HP:0007488	Diffuse skin atrophy	3	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0011355	HP:0004467	Preauricular pit	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0011355	HP:0001114	Xanthelasma	3	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	HP:0040283 - Occasional		106
HP:0011355	HP:0001075	Atrophic scars	3	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent		4
HP:0011355	HP:0000957	Cafe-au-lait spot	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0011355	HP:0000957	Cafe-au-lait spot	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011355	HP:0001003	Multiple lentigines	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011355	HP:0001003	Multiple lentigines	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0011355	HP:0001003	Multiple lentigines	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011355	HP:0001003	Multiple lentigines	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.		84
HP:0011355	HP:0005600	Congenital giant melanocytic nevus	3	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent		124
HP:0011355	HP:0007481	Hyperpigmented nevi	3	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040284 - Very rare		124
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0011355	HP:0004467	Preauricular pit	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0011355	HP:0007413	Nevus flammeus of the forehead	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040281 - Very frequent		43
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0011355	HP:0005605	Large cafe-au-lait macules with irregular margins	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		462
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0011355	HP:0004467	Preauricular pit	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0011355	HP:0004467	Preauricular pit	3	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.		91
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011355	HP:0001075	Atrophic scars	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040281 - Very frequent		6
HP:0011355	HP:0001075	Atrophic scars	3	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0011355	HP:0006121	Acral ulceration	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		45
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina	.		45
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional		68
HP:0011355	HP:0000957	Cafe-au-lait spot	3	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0011355	HP:0020154	Nevus comedonicus	3	NEK9 CL E G H	91754	18591	OMIM:617025	NEVUS COMEDONICUS; NC			9
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040281 - Very frequent		1952
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.		1952
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome			1952
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II			220
HP:0011355	HP:0006121	Acral ulceration	3	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0011355	HP:0004467	Preauricular pit	3	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.		90
HP:0011355	HP:0004467	Preauricular pit	3	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		90
HP:0011355	HP:0004467	Preauricular pit	3	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		3
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0011355	HP:0004467	Preauricular pit	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0011355	HP:0001065	Striae distensae	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0011355	HP:0005600	Congenital giant melanocytic nevus	3	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040281 - Very frequent		102
HP:0011355	HP:0005600	Congenital giant melanocytic nevus	3	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.		102
HP:0011355	HP:0005603	Numerous congenital melanocytic nevi	3	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.		102
HP:0011355	HP:0000957	Cafe-au-lait spot	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011355	HP:0001003	Multiple lentigines	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011355	HP:0010815	Nevus sebaceous	3	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0011355	HP:0004467	Preauricular pit	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0011355	HP:0006121	Acral ulceration	3	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0011355	HP:0007481	Hyperpigmented nevi	3	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040284 - Very rare		121
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.		1349
HP:0011355	HP:0004467	Preauricular pit	3	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0011355	HP:0004467	Preauricular pit	3	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0011355	HP:0001114	Xanthelasma	3	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3			178
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040284 - Very rare		13
HP:0011355	HP:0001003	Multiple lentigines	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040281 - Very frequent		13
HP:0011355	HP:0001065	Striae distensae	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011355	HP:0001065	Striae distensae	3	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0011355	HP:0001065	Striae distensae	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		13
HP:0011355	HP:0001065	Striae distensae	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		75
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita			759
HP:0011355	HP:0001075	Atrophic scars	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0011355	HP:0007589	Aplasia cutis congenita on trunk or limbs	3	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0011355	HP:0001075	Atrophic scars	3	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0011355	HP:0007589	Aplasia cutis congenita on trunk or limbs	3	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0011355	HP:0001075	Atrophic scars	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent		105
HP:0011355	HP:0031158	Widened atrophic scar	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0011355	HP:0007413	Nevus flammeus of the forehead	3	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011355	HP:0009719	Hypomelanotic macule	3	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2	.		2
HP:0011355	HP:0004467	Preauricular pit	3	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011355	HP:0004467	Preauricular pit	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011355	HP:0001114	Xanthelasma	3	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1			2
HP:0011355	HP:0001065	Striae distensae	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		2
HP:0011355	HP:0001065	Striae distensae	3	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040284 - Very rare		134
HP:0011355	HP:0001003	Multiple lentigines	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040281 - Very frequent		134
HP:0011355	HP:0001065	Striae distensae	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011355	HP:0001003	Multiple lentigines	3	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0011355	HP:0001065	Striae distensae	3	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0011355	HP:0001065	Striae distensae	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		134
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0011355	HP:0009721	Shagreen patch	3	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent		948
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0011355	HP:0001003	Multiple lentigines	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0011355	HP:0000957	Cafe-au-lait spot	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011355	HP:0001003	Multiple lentigines	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0011355	HP:0010733	Naevus flammeus of the eyelid	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0011355	HP:0004467	Preauricular pit	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0011355	HP:0000957	Cafe-au-lait spot	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0011355	HP:0000957	Cafe-au-lait spot	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0011355	HP:0000957	Cafe-au-lait spot	3	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0011355	HP:0001003	Multiple lentigines	3	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0011355	HP:0000957	Cafe-au-lait spot	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011355	HP:0001003	Multiple lentigines	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0011355	HP:0001003	Multiple lentigines	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0011355	HP:0000957	Cafe-au-lait spot	3	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0011355	HP:0007481	Hyperpigmented nevi	3	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0011355	HP:0007413	Nevus flammeus of the forehead	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0011355	HP:0007413	Nevus flammeus of the forehead	3	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0011355	HP:0000957	Cafe-au-lait spot	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011355	HP:0000957	Cafe-au-lait spot	3	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.		572
HP:0011355	HP:0006121	Acral ulceration	3	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		54
HP:0011355	HP:0006121	Acral ulceration	3	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.		54
HP:0011355	HP:0000957	Cafe-au-lait spot	3	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0011355	HP:0000957	Cafe-au-lait spot	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0011355	HP:0002710	Commissural lip pit	3	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent		69
HP:0011355	HP:0002710	Commissural lip pit	3	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS	.		69
HP:0011355	HP:0004467	Preauricular pit	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0011355	HP:0006121	Acral ulceration	3	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		318
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.		237
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.		129
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040283 - Occasional		143
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011355	HP:0001003	Multiple lentigines	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011355	HP:0004467	Preauricular pit	3	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent		50
HP:0011355	HP:0002710	Commissural lip pit	3	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0011355	HP:0004467	Preauricular pit	3	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3			50
HP:0011355	HP:0004467	Preauricular pit	3	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0011355	HP:0004467	Preauricular pit	3	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23	HP:0040283 - Occasional		50
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011355	HP:0009721	Shagreen patch	3	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0011355	HP:0001114	Xanthelasma	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0011355	HP:0001114	Xanthelasma	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0011355	HP:0001114	Xanthelasma	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0011355	HP:0001073	Cigarette-paper scars	3	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0011355	HP:0001075	Atrophic scars	3	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	.		274
HP:0011355	HP:0001065	Striae distensae	3	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0011355	HP:0001065	Striae distensae	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent		260
HP:0011355	HP:0001065	Striae distensae	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0011355	HP:0001075	Atrophic scars	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011355	HP:0001003	Multiple lentigines	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent		74
HP:0011355	HP:0010815	Nevus sebaceous	3	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.		61
HP:0011355	HP:0004467	Preauricular pit	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0011355	HP:0004467	Preauricular pit	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent		6
HP:0011355	HP:0001065	Striae distensae	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0000957	Cafe-au-lait spot	3	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome			136
HP:0011355	HP:0001114	Xanthelasma	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0006121	Acral ulceration	3	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0011355	HP:0004467	Preauricular pit	3	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0011355	HP:0000957	Cafe-au-lait spot	3	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	HP:0040283 - Occasional		1
HP:0011355	HP:0000957	Cafe-au-lait spot	3	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040283 - Occasional		1
HP:0011355	HP:0001003	Multiple lentigines	3	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040281 - Very frequent		740
HP:0011355	HP:0011369	Mongolian blue spot	3	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011355	HP:0004464	Postauricular pit	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0011355	HP:0004467	Preauricular pit	3	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.		32
HP:0011355	HP:0004467	Preauricular pit	3	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		32
HP:0011355	HP:0001065	Striae distensae	3	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0011355	HP:0100269	Paramedian lip pit	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0011355	HP:0004464	Postauricular pit	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent		12
HP:0011355	HP:0004467	Preauricular pit	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent		12
HP:0011355	HP:0008606	Supraauricular pit	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent		12
HP:0011355	HP:0100269	Paramedian lip pit	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011355	HP:0004464	Postauricular pit	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011355	HP:0004467	Preauricular pit	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0011355	HP:0008606	Supraauricular pit	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011355	HP:0001065	Striae distensae	3	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0011355	HP:0001065	Striae distensae	3	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		239
HP:0011355	HP:0001065	Striae distensae	3	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent		253
HP:0011355	HP:0001065	Striae distensae	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis			10
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis			4
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.		131
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0011355	HP:0001065	Striae distensae	3	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0011355	HP:0001065	Striae distensae	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0011355	HP:0009721	Shagreen patch	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0011355	HP:0009719	Hypomelanotic macule	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent		1090
HP:0011355	HP:0009721	Shagreen patch	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011355	HP:0009719	Hypomelanotic macule	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011355	HP:0009721	Shagreen patch	3	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0011355	HP:0009721	Shagreen patch	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0011355	HP:0007449	Confetti-like hypopigmented macules	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0011355	HP:0009719	Hypomelanotic macule	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent		2738
HP:0011355	HP:0009721	Shagreen patch	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0011355	HP:0009719	Hypomelanotic macule	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011355	HP:0009721	Shagreen patch	3	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0011355	HP:0001114	Xanthelasma	3	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.		62
HP:0011355	HP:0000957	Cafe-au-lait spot	3	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0011355	HP:0004467	Preauricular pit	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0011355	HP:0000957	Cafe-au-lait spot	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0011355	HP:0000957	Cafe-au-lait spot	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0011355	HP:0007385	Aplasia cutis congenita of scalp	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0011355	HP:0000957	Cafe-au-lait spot	3	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0011355	HP:0001065	Striae distensae	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0011355	HP:0001065	Striae distensae	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0011355	HP:0001065	Striae distensae	3	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0011355	HP:0000957	Cafe-au-lait spot	3	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.		490
HP:0011355	HP:0000957	Cafe-au-lait spot	3	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011355	HP:0000957	Cafe-au-lait spot	3	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011355	HP:0004467	Preauricular pit	3	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011355	HP:0006121	Acral ulceration	3	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		199
HP:0011355	HP:0010733	Naevus flammeus of the eyelid	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0011355	HP:0000957	Cafe-au-lait spot	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0011355	HP:0004467	Preauricular pit	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0011355	HP:0000957	Cafe-au-lait spot	3	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0011355	HP:0004467	Preauricular pit	3	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		31
HP:0011355	HP:0004467	Preauricular pit	3	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.		31
HP:0011355	HP:0004467	Preauricular pit	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011355	HP:0001065	Striae distensae	3	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0011355	HP:0007504	Diffuse slow skin atrophy	4	CL E G H
HP:0011355	HP:0010605	Chalazion	4	CL E G H
HP:0011355	HP:0010607	Hordeolum externum	4	CL E G H
HP:0011355	HP:0010608	Hordeolum internum	4	CL E G H
HP:0011355	HP:0030679	Ash-leaf spot	4	CL E G H
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040282 - Frequent		20
HP:0011355	HP:0031158	Widened atrophic scar	4	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		54
HP:0011355	HP:0004476	Aplasia cutis congenita over parietal area	4	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		1
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040283 - Occasional		3267
HP:0011355	HP:0004471	Aplasia cutis congenita over the scalp vertex	4	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent		1
HP:0011355	HP:0004471	Aplasia cutis congenita over the scalp vertex	4	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC			1
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0011355	HP:0007429	Few cafe-au-lait spots	4	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ			1086
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		660
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent		325
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2			325
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0011355	HP:0001073	Cigarette-paper scars	4	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0011355	HP:0001073	Cigarette-paper scars	4	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0011355	HP:0004471	Aplasia cutis congenita over the scalp vertex	4	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent		9
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		16
HP:0011355	HP:0007429	Few cafe-au-lait spots	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011355	HP:0000196	Lower lip pit	4	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040282 - Frequent		12
HP:0011355	HP:0010817	Linear nevus sebaceous	4	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0011355	HP:0010817	Linear nevus sebaceous	4	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0011355	HP:0000196	Lower lip pit	4	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.		99
HP:0011355	HP:0000196	Lower lip pit	4	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040282 - Frequent		99
HP:0011355	HP:0000196	Lower lip pit	4	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1	.		99
HP:0011355	HP:0004471	Aplasia cutis congenita over the scalp vertex	4	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent		124
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional		81
HP:0011355	HP:0000196	Lower lip pit	4	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0011355	HP:0010817	Linear nevus sebaceous	4	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare		93
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		178
HP:0011355	HP:0004471	Aplasia cutis congenita over the scalp vertex	4	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional		3
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1			1819
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2			2162
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3			2232
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040281 - Very frequent		1952
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		1952
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.		1952
HP:0011355	HP:0010817	Linear nevus sebaceous	4	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0011355	HP:0004471	Aplasia cutis congenita over the scalp vertex	4	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent		759
HP:0011355	HP:0031158	Widened atrophic scar	4	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4			1121
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		948
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0011355	HP:0007429	Few cafe-au-lait spots	4	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional		3
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0011355	HP:0007429	Few cafe-au-lait spots	4	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011355	HP:0001073	Cigarette-paper scars	4	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0011355	HP:0100268	Upper lip pit	4	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040283 - Occasional		12
HP:0011355	HP:0000196	Lower lip pit	4	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent		10
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent		4
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare		140
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0011355	HP:0007429	Few cafe-au-lait spots	4	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3			2
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040283 - Occasional		7
HP:0011355	HP:0004471	Aplasia cutis congenita over the scalp vertex	4	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0011355	HP:0007565	Multiple cafe-au-lait spots	4	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0011355	HP:0007536	Aplasia cutis congenita of midline scalp vertex	5	CL E G H
HP:0011355	HP:0007590	Aplasia cutis congenita over posterior parietal area	5	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147