Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012733	HP:0012733	Macule	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent	20
HP:0012733	HP:0012733	Macule	0	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0012733	HP:0012733	Macule	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0012733	HP:0012733	Macule	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0012733	HP:0012733	Macule	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0012733	HP:0012733	Macule	0	ADAR CL E G H	103	225	ORPHA:41	Dyschromatosis symmetrica hereditaria	HP:0040281 - Very frequent	116
HP:0012733	HP:0012733	Macule	0	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1		116
HP:0012733	HP:0012733	Macule	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0012733	HP:0012733	Macule	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0012733	HP:0012733	Macule	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0012733	HP:0012733	Macule	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0012733	HP:0012733	Macule	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0012733	HP:0012733	Macule	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0012733	HP:0012733	Macule	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0012733	HP:0012733	Macule	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040283 - Occasional	86
HP:0012733	HP:0012733	Macule	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0012733	HP:0012733	Macule	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0012733	HP:0012733	Macule	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0012733	HP:0012733	Macule	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0012733	HP:0012733	Macule	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0012733	HP:0012733	Macule	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0012733	HP:0012733	Macule	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0012733	HP:0012733	Macule	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0012733	HP:0012733	Macule	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0012733	HP:0012733	Macule	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0012733	HP:0012733	Macule	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0012733	HP:0012733	Macule	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0012733	HP:0012733	Macule	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0012733	HP:0012733	Macule	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0012733	HP:0012733	Macule	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0012733	HP:0012733	Macule	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0012733	HP:0012733	Macule	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		15
HP:0012733	HP:0012733	Macule	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome		7
HP:0012733	HP:0012733	Macule	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0012733	HP:0012733	Macule	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0012733	HP:0012733	Macule	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0012733	HP:0012733	Macule	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0012733	HP:0012733	Macule	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0012733	HP:0012733	Macule	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0012733	HP:0012733	Macule	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0012733	HP:0012733	Macule	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0012733	HP:0012733	Macule	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0012733	HP:0012733	Macule	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0012733	HP:0012733	Macule	0	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0012733	HP:0012733	Macule	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0012733	HP:0012733	Macule	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0012733	HP:0012733	Macule	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0012733	HP:0012733	Macule	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0012733	HP:0012733	Macule	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012733	HP:0012733	Macule	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0012733	HP:0012733	Macule	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	4
HP:0012733	HP:0012733	Macule	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	160
HP:0012733	HP:0012733	Macule	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0012733	HP:0012733	Macule	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0012733	HP:0012733	Macule	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0012733	HP:0012733	Macule	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0012733	HP:0012733	Macule	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0012733	HP:0012733	Macule	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0012733	HP:0012733	Macule	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	65
HP:0012733	HP:0012733	Macule	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0012733	HP:0012733	Macule	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0012733	HP:0012733	Macule	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent	62
HP:0012733	HP:0012733	Macule	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0012733	HP:0012733	Macule	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0012733	HP:0012733	Macule	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	3
HP:0012733	HP:0012733	Macule	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0012733	HP:0012733	Macule	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0012733	HP:0012733	Macule	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0012733	HP:0012733	Macule	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0012733	HP:0012733	Macule	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0012733	HP:0012733	Macule	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0012733	HP:0012733	Macule	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0012733	HP:0012733	Macule	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0012733	HP:0012733	Macule	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0012733	HP:0012733	Macule	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0012733	HP:0012733	Macule	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0012733	HP:0012733	Macule	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0012733	HP:0012733	Macule	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0012733	HP:0012733	Macule	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0012733	HP:0012733	Macule	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0012733	HP:0012733	Macule	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0012733	HP:0012733	Macule	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0012733	HP:0012733	Macule	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0012733	HP:0012733	Macule	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0012733	HP:0012733	Macule	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0012733	HP:0012733	Macule	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0012733	HP:0012733	Macule	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0012733	HP:0012733	Macule	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0012733	HP:0012733	Macule	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0012733	HP:0012733	Macule	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0012733	HP:0012733	Macule	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0012733	HP:0012733	Macule	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0012733	HP:0012733	Macule	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0012733	HP:0012733	Macule	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0012733	HP:0012733	Macule	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0012733	HP:0012733	Macule	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0012733	HP:0012733	Macule	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome		145
HP:0012733	HP:0012733	Macule	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0012733	HP:0012733	Macule	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	68
HP:0012733	HP:0012733	Macule	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	74
HP:0012733	HP:0012733	Macule	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	12
HP:0012733	HP:0012733	Macule	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0012733	HP:0012733	Macule	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei		7
HP:0012733	HP:0012733	Macule	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0012733	HP:0012733	Macule	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0012733	HP:0012733	Macule	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040283 - Occasional	101
HP:0012733	HP:0012733	Macule	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012733	HP:0012733	Macule	0	GPNMB CL E G H	10457	4462	OMIM:617920	Amyloidosis, primary localized cutaneous, 3
HP:0012733	HP:0012733	Macule	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0012733	HP:0012733	Macule	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012733	HP:0012733	Macule	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	4
HP:0012733	HP:0012733	Macule	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent
HP:0012733	HP:0012733	Macule	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent	2
HP:0012733	HP:0012733	Macule	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0012733	HP:0012733	Macule	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0012733	HP:0012733	Macule	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0012733	HP:0012733	Macule	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0012733	HP:0012733	Macule	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0012733	HP:0012733	Macule	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0012733	HP:0012733	Macule	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0012733	HP:0012733	Macule	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	8
HP:0012733	HP:0012733	Macule	0	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to		2
HP:0012733	HP:0012733	Macule	0	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0012733	HP:0012733	Macule	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0012733	HP:0012733	Macule	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0012733	HP:0012733	Macule	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0012733	HP:0012733	Macule	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0012733	HP:0012733	Macule	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0012733	HP:0012733	Macule	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0012733	HP:0012733	Macule	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities		9
HP:0012733	HP:0012733	Macule	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	4
HP:0012733	HP:0012733	Macule	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0012733	HP:0012733	Macule	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0012733	HP:0012733	Macule	0	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous		327
HP:0012733	HP:0012733	Macule	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040282 - Frequent	327
HP:0012733	HP:0012733	Macule	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0012733	HP:0012733	Macule	0	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0012733	HP:0012733	Macule	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0012733	HP:0012733	Macule	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0012733	HP:0012733	Macule	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0012733	HP:0012733	Macule	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		110
HP:0012733	HP:0012733	Macule	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		110
HP:0012733	HP:0012733	Macule	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		173
HP:0012733	HP:0012733	Macule	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease		173
HP:0012733	HP:0012733	Macule	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0012733	HP:0012733	Macule	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0012733	HP:0012733	Macule	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0012733	HP:0012733	Macule	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012733	HP:0012733	Macule	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0012733	HP:0012733	Macule	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0012733	HP:0012733	Macule	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0012733	HP:0012733	Macule	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0012733	HP:0012733	Macule	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0012733	HP:0012733	Macule	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0012733	HP:0012733	Macule	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0012733	HP:0012733	Macule	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0012733	HP:0012733	Macule	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0012733	HP:0012733	Macule	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0012733	HP:0012733	Macule	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0012733	HP:0012733	Macule	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0012733	HP:0012733	Macule	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0012733	HP:0012733	Macule	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0012733	HP:0012733	Macule	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0012733	HP:0012733	Macule	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0012733	HP:0012733	Macule	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012733	HP:0012733	Macule	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0012733	HP:0012733	Macule	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0012733	HP:0012733	Macule	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0012733	HP:0012733	Macule	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0012733	HP:0012733	Macule	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0012733	HP:0012733	Macule	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0012733	HP:0012733	Macule	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0012733	HP:0012733	Macule	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0012733	HP:0012733	Macule	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0012733	HP:0012733	Macule	0	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:0012733	HP:0012733	Macule	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0012733	HP:0012733	Macule	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0012733	HP:0012733	Macule	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0012733	HP:0012733	Macule	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0012733	HP:0012733	Macule	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0012733	HP:0012733	Macule	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0012733	HP:0012733	Macule	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	27
HP:0012733	HP:0012733	Macule	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0012733	HP:0012733	Macule	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	17
HP:0012733	HP:0012733	Macule	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	12
HP:0012733	HP:0012733	Macule	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0012733	HP:0012733	Macule	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0012733	HP:0012733	Macule	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0012733	HP:0012733	Macule	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	26
HP:0012733	HP:0012733	Macule	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0012733	HP:0012733	Macule	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0012733	HP:0012733	Macule	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0012733	HP:0012733	Macule	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012733	HP:0012733	Macule	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0012733	HP:0012733	Macule	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0012733	HP:0012733	Macule	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0012733	HP:0012733	Macule	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0012733	HP:0012733	Macule	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0012733	HP:0012733	Macule	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0012733	HP:0012733	Macule	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement		759
HP:0012733	HP:0012733	Macule	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0012733	HP:0012733	Macule	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0012733	HP:0012733	Macule	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease		2
HP:0012733	HP:0012733	Macule	0	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2		2
HP:0012733	HP:0012733	Macule	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease		6
HP:0012733	HP:0012733	Macule	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0012733	HP:0012733	Macule	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0012733	HP:0012733	Macule	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0012733	HP:0012733	Macule	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0012733	HP:0012733	Macule	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0012733	HP:0012733	Macule	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0012733	HP:0012733	Macule	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012733	HP:0012733	Macule	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease		2
HP:0012733	HP:0012733	Macule	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0012733	HP:0012733	Macule	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0012733	HP:0012733	Macule	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0012733	HP:0012733	Macule	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0012733	HP:0012733	Macule	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0012733	HP:0012733	Macule	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0012733	HP:0012733	Macule	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0012733	HP:0012733	Macule	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0012733	HP:0012733	Macule	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0012733	HP:0012733	Macule	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0012733	HP:0012733	Macule	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0012733	HP:0012733	Macule	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	88
HP:0012733	HP:0012733	Macule	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0012733	HP:0012733	Macule	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0012733	HP:0012733	Macule	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0012733	HP:0012733	Macule	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0012733	HP:0012733	Macule	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0012733	HP:0012733	Macule	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0012733	HP:0012733	Macule	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	77
HP:0012733	HP:0012733	Macule	0	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria		1
HP:0012733	HP:0012733	Macule	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0012733	HP:0012733	Macule	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0012733	HP:0012733	Macule	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0012733	HP:0012733	Macule	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0012733	HP:0012733	Macule	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0012733	HP:0012733	Macule	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0012733	HP:0012733	Macule	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0012733	HP:0012733	Macule	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome		143
HP:0012733	HP:0012733	Macule	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0012733	HP:0012733	Macule	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0012733	HP:0012733	Macule	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0012733	HP:0012733	Macule	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0012733	HP:0012733	Macule	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0012733	HP:0012733	Macule	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0012733	HP:0012733	Macule	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0012733	HP:0012733	Macule	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0012733	HP:0012733	Macule	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0012733	HP:0012733	Macule	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0012733	HP:0012733	Macule	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0012733	HP:0012733	Macule	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0012733	HP:0012733	Macule	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040282 - Frequent	19
HP:0012733	HP:0012733	Macule	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0012733	HP:0012733	Macule	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0012733	HP:0012733	Macule	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0012733	HP:0012733	Macule	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0012733	HP:0012733	Macule	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0012733	HP:0012733	Macule	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome		47
HP:0012733	HP:0012733	Macule	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0012733	HP:0012733	Macule	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts		1
HP:0012733	HP:0012733	Macule	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0012733	HP:0012733	Macule	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040281 - Very frequent	740
HP:0012733	HP:0012733	Macule	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012733	HP:0012733	Macule	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	48
HP:0012733	HP:0012733	Macule	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	238
HP:0012733	HP:0012733	Macule	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	44
HP:0012733	HP:0012733	Macule	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	60
HP:0012733	HP:0012733	Macule	0	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis		10
HP:0012733	HP:0012733	Macule	0	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis		4
HP:0012733	HP:0012733	Macule	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0012733	HP:0012733	Macule	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent	131
HP:0012733	HP:0012733	Macule	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0012733	HP:0012733	Macule	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0012733	HP:0012733	Macule	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0012733	HP:0012733	Macule	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0012733	HP:0012733	Macule	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0012733	HP:0012733	Macule	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0012733	HP:0012733	Macule	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0012733	HP:0012733	Macule	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0012733	HP:0012733	Macule	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0012733	HP:0012733	Macule	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0012733	HP:0012733	Macule	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0012733	HP:0012733	Macule	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	1
HP:0012733	HP:0012733	Macule	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0012733	HP:0012733	Macule	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012733	HP:0012733	Macule	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0012733	HP:0012733	Macule	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	8
HP:0012733	HP:0012733	Macule	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0012733	HP:0012733	Macule	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0012733	HP:0012733	Macule	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012733	HP:0012733	Macule	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0012733	HP:0012733	Macule	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	40
HP:0012733	HP:0012733	Macule	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0012733	HP:0012733	Macule	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0012733	HP:0012733	Macule	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0012733	HP:0012733	Macule	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0012733	HP:0012733	Macule	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0012733	HP:0001034	Hypermelanotic macule	1	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent	20
HP:0012733	HP:0001034	Hypermelanotic macule	1	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0012733	HP:0020073	Hypopigmented macule	1	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0012733	HP:0001034	Hypermelanotic macule	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0012733	HP:0001034	Hypermelanotic macule	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0012733	HP:0001034	Hypermelanotic macule	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent	72
HP:0012733	HP:0007441	Hyperpigmented/hypopigmented macules	1	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1	.	116
HP:0012733	HP:0001034	Hypermelanotic macule	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0012733	HP:0001034	Hypermelanotic macule	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0012733	HP:0001034	Hypermelanotic macule	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0012733	HP:0001034	Hypermelanotic macule	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0012733	HP:0001034	Hypermelanotic macule	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0012733	HP:0001034	Hypermelanotic macule	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0012733	HP:0001034	Hypermelanotic macule	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0012733	HP:0001034	Hypermelanotic macule	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040281 - Very frequent	86
HP:0012733	HP:0001034	Hypermelanotic macule	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	HP:0040283 - Occasional	86
HP:0012733	HP:0001034	Hypermelanotic macule	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0012733	HP:0001034	Hypermelanotic macule	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0012733	HP:0001034	Hypermelanotic macule	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0012733	HP:0001034	Hypermelanotic macule	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0012733	HP:0001034	Hypermelanotic macule	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0012733	HP:0001034	Hypermelanotic macule	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0012733	HP:0001034	Hypermelanotic macule	1	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	15
HP:0012733	HP:0001034	Hypermelanotic macule	1	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	7
HP:0012733	HP:0001034	Hypermelanotic macule	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0012733	HP:0001034	Hypermelanotic macule	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0012733	HP:0020073	Hypopigmented macule	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0012733	HP:0001034	Hypermelanotic macule	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0012733	HP:0020073	Hypopigmented macule	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0012733	HP:0020073	Hypopigmented macule	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0012733	HP:0001034	Hypermelanotic macule	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0012733	HP:0020073	Hypopigmented macule	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0012733	HP:0001034	Hypermelanotic macule	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0012733	HP:0001034	Hypermelanotic macule	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0012733	HP:0020073	Hypopigmented macule	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0012733	HP:0001034	Hypermelanotic macule	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0012733	HP:0001034	Hypermelanotic macule	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0012733	HP:0001034	Hypermelanotic macule	1	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0012733	HP:0001034	Hypermelanotic macule	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0012733	HP:0001034	Hypermelanotic macule	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0012733	HP:0001034	Hypermelanotic macule	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0012733	HP:0001034	Hypermelanotic macule	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012733	HP:0001034	Hypermelanotic macule	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0012733	HP:0001034	Hypermelanotic macule	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	160
HP:0012733	HP:0001034	Hypermelanotic macule	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0012733	HP:0001034	Hypermelanotic macule	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0012733	HP:0001034	Hypermelanotic macule	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0012733	HP:0001034	Hypermelanotic macule	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0012733	HP:0001034	Hypermelanotic macule	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0012733	HP:0001034	Hypermelanotic macule	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0012733	HP:0001034	Hypermelanotic macule	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	65
HP:0012733	HP:0001034	Hypermelanotic macule	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0012733	HP:0001034	Hypermelanotic macule	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0012733	HP:0020073	Hypopigmented macule	1	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0012733	HP:0001034	Hypermelanotic macule	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0012733	HP:0020073	Hypopigmented macule	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	3
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0012733	HP:0001034	Hypermelanotic macule	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0012733	HP:0001034	Hypermelanotic macule	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0012733	HP:0020073	Hypopigmented macule	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0012733	HP:0001034	Hypermelanotic macule	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0012733	HP:0001034	Hypermelanotic macule	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040283 - Occasional	145
HP:0012733	HP:0001034	Hypermelanotic macule	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	68
HP:0012733	HP:0001034	Hypermelanotic macule	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	74
HP:0012733	HP:0001034	Hypermelanotic macule	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	12
HP:0012733	HP:0001034	Hypermelanotic macule	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0012733	HP:0001034	Hypermelanotic macule	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040281 - Very frequent	7
HP:0012733	HP:0001034	Hypermelanotic macule	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0012733	HP:0001034	Hypermelanotic macule	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0012733	HP:0001034	Hypermelanotic macule	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040283 - Occasional	101
HP:0012733	HP:0001034	Hypermelanotic macule	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012733	HP:0001034	Hypermelanotic macule	1	GPNMB CL E G H	10457	4462	OMIM:617920	Amyloidosis, primary localized cutaneous, 3	.
HP:0012733	HP:0001034	Hypermelanotic macule	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0012733	HP:0001034	Hypermelanotic macule	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012733	HP:0001034	Hypermelanotic macule	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0012733	HP:0020073	Hypopigmented macule	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0012733	HP:0001034	Hypermelanotic macule	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0012733	HP:0020073	Hypopigmented macule	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0012733	HP:0001034	Hypermelanotic macule	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0012733	HP:0001034	Hypermelanotic macule	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0012733	HP:0001034	Hypermelanotic macule	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0012733	HP:0001034	Hypermelanotic macule	1	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to	.	2
HP:0012733	HP:0001034	Hypermelanotic macule	1	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0012733	HP:0001034	Hypermelanotic macule	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0012733	HP:0001034	Hypermelanotic macule	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0012733	HP:0001034	Hypermelanotic macule	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0012733	HP:0001034	Hypermelanotic macule	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0012733	HP:0001034	Hypermelanotic macule	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0012733	HP:0001034	Hypermelanotic macule	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0012733	HP:0001034	Hypermelanotic macule	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	4
HP:0012733	HP:0001034	Hypermelanotic macule	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0012733	HP:0001034	Hypermelanotic macule	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma	HP:0040283 - Occasional	327
HP:0012733	HP:0001034	Hypermelanotic macule	1	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0012733	HP:0001034	Hypermelanotic macule	1	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0012733	HP:0001034	Hypermelanotic macule	1	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0012733	HP:0001034	Hypermelanotic macule	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0012733	HP:0001034	Hypermelanotic macule	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0012733	HP:0001034	Hypermelanotic macule	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0012733	HP:0020073	Hypopigmented macule	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		110
HP:0012733	HP:0001034	Hypermelanotic macule	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional	110
HP:0012733	HP:0020073	Hypopigmented macule	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		110
HP:0012733	HP:0001034	Hypermelanotic macule	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	110
HP:0012733	HP:0020073	Hypopigmented macule	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		173
HP:0012733	HP:0001034	Hypermelanotic macule	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional	173
HP:0012733	HP:0020073	Hypopigmented macule	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	173
HP:0012733	HP:0001034	Hypermelanotic macule	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0012733	HP:0020073	Hypopigmented macule	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0012733	HP:0007441	Hyperpigmented/hypopigmented macules	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0012733	HP:0001034	Hypermelanotic macule	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	173
HP:0012733	HP:0001034	Hypermelanotic macule	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0012733	HP:0001034	Hypermelanotic macule	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0012733	HP:0001034	Hypermelanotic macule	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0012733	HP:0001034	Hypermelanotic macule	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0012733	HP:0001034	Hypermelanotic macule	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0012733	HP:0001034	Hypermelanotic macule	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0012733	HP:0001034	Hypermelanotic macule	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0012733	HP:0001034	Hypermelanotic macule	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0012733	HP:0001034	Hypermelanotic macule	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0012733	HP:0001034	Hypermelanotic macule	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0012733	HP:0001034	Hypermelanotic macule	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0012733	HP:0001034	Hypermelanotic macule	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0012733	HP:0001034	Hypermelanotic macule	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0012733	HP:0020073	Hypopigmented macule	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0012733	HP:0001034	Hypermelanotic macule	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0012733	HP:0020073	Hypopigmented macule	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0012733	HP:0001034	Hypermelanotic macule	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0012733	HP:0001034	Hypermelanotic macule	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0012733	HP:0001034	Hypermelanotic macule	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0012733	HP:0001034	Hypermelanotic macule	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0012733	HP:0001034	Hypermelanotic macule	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0012733	HP:0001034	Hypermelanotic macule	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0012733	HP:0001034	Hypermelanotic macule	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0012733	HP:0001034	Hypermelanotic macule	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0012733	HP:0001034	Hypermelanotic macule	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0012733	HP:0001034	Hypermelanotic macule	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0012733	HP:0001034	Hypermelanotic macule	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0012733	HP:0001034	Hypermelanotic macule	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0012733	HP:0001034	Hypermelanotic macule	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0012733	HP:0001034	Hypermelanotic macule	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0012733	HP:0001034	Hypermelanotic macule	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0012733	HP:0020073	Hypopigmented macule	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0012733	HP:0001034	Hypermelanotic macule	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0012733	HP:0001034	Hypermelanotic macule	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0012733	HP:0001034	Hypermelanotic macule	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0012733	HP:0001034	Hypermelanotic macule	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0012733	HP:0001034	Hypermelanotic macule	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	27
HP:0012733	HP:0020073	Hypopigmented macule	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0012733	HP:0001034	Hypermelanotic macule	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	17
HP:0012733	HP:0001034	Hypermelanotic macule	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	12
HP:0012733	HP:0001034	Hypermelanotic macule	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0012733	HP:0001034	Hypermelanotic macule	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0012733	HP:0001034	Hypermelanotic macule	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0012733	HP:0001034	Hypermelanotic macule	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	26
HP:0012733	HP:0001034	Hypermelanotic macule	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0012733	HP:0001034	Hypermelanotic macule	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0012733	HP:0001034	Hypermelanotic macule	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0012733	HP:0001034	Hypermelanotic macule	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0012733	HP:0001034	Hypermelanotic macule	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0012733	HP:0007441	Hyperpigmented/hypopigmented macules	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0012733	HP:0001034	Hypermelanotic macule	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0012733	HP:0001034	Hypermelanotic macule	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0012733	HP:0001034	Hypermelanotic macule	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0012733	HP:0020073	Hypopigmented macule	1	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759
HP:0012733	HP:0001034	Hypermelanotic macule	1	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759
HP:0012733	HP:0001034	Hypermelanotic macule	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0012733	HP:0001034	Hypermelanotic macule	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0012733	HP:0020073	Hypopigmented macule	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0012733	HP:0001034	Hypermelanotic macule	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0012733	HP:0020073	Hypopigmented macule	1	POFUT1 CL E G H	23509	14988	OMIM:615327	Dowling-Degos disease 2		2
HP:0012733	HP:0001034	Hypermelanotic macule	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0012733	HP:0020073	Hypopigmented macule	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	6
HP:0012733	HP:0001034	Hypermelanotic macule	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0012733	HP:0001034	Hypermelanotic macule	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134
HP:0012733	HP:0001034	Hypermelanotic macule	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0012733	HP:0025475	Erythematous macule	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0012733	HP:0020073	Hypopigmented macule	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0012733	HP:0001034	Hypermelanotic macule	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0012733	HP:0001034	Hypermelanotic macule	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0012733	HP:0001034	Hypermelanotic macule	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0012733	HP:0001034	Hypermelanotic macule	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0012733	HP:0001034	Hypermelanotic macule	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0012733	HP:0001034	Hypermelanotic macule	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0012733	HP:0001034	Hypermelanotic macule	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0012733	HP:0001034	Hypermelanotic macule	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0012733	HP:0001034	Hypermelanotic macule	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0012733	HP:0001034	Hypermelanotic macule	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0012733	HP:0001034	Hypermelanotic macule	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0012733	HP:0001034	Hypermelanotic macule	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0012733	HP:0020073	Hypopigmented macule	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	88
HP:0012733	HP:0001034	Hypermelanotic macule	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0012733	HP:0001034	Hypermelanotic 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:0012733	HP:0001034	Hypermelanotic macule	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0012733	HP:0001034	Hypermelanotic macule	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0012733	HP:0001034	Hypermelanotic macule	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0012733	HP:0001034	Hypermelanotic macule	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	77
HP:0012733	HP:0007441	Hyperpigmented/hypopigmented macules	1	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria	.	1
HP:0012733	HP:0001034	Hypermelanotic macule	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0012733	HP:0001034	Hypermelanotic macule	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0012733	HP:0001034	Hypermelanotic macule	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0012733	HP:0001034	Hypermelanotic macule	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0012733	HP:0001034	Hypermelanotic macule	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0012733	HP:0001034	Hypermelanotic macule	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0012733	HP:0001034	Hypermelanotic macule	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0012733	HP:0001034	Hypermelanotic macule	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome		143
HP:0012733	HP:0001034	Hypermelanotic macule	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0012733	HP:0001034	Hypermelanotic macule	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0012733	HP:0001034	Hypermelanotic macule	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0012733	HP:0001034	Hypermelanotic macule	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0012733	HP:0001034	Hypermelanotic macule	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0012733	HP:0001034	Hypermelanotic macule	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0012733	HP:0001034	Hypermelanotic macule	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0012733	HP:0001034	Hypermelanotic macule	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0012733	HP:0001034	Hypermelanotic macule	1	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0012733	HP:0001034	Hypermelanotic macule	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0012733	HP:0001034	Hypermelanotic macule	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0012733	HP:0001034	Hypermelanotic macule	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0012733	HP:0020073	Hypopigmented macule	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0012733	HP:0001034	Hypermelanotic macule	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0012733	HP:0001034	Hypermelanotic macule	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0012733	HP:0001034	Hypermelanotic macule	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.	47
HP:0012733	HP:0001034	Hypermelanotic macule	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0012733	HP:0001034	Hypermelanotic macule	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts		1
HP:0012733	HP:0001034	Hypermelanotic macule	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0012733	HP:0001034	Hypermelanotic macule	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0012733	HP:0001034	Hypermelanotic macule	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0012733	HP:0001034	Hypermelanotic macule	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	48
HP:0012733	HP:0001034	Hypermelanotic macule	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	238
HP:0012733	HP:0001034	Hypermelanotic macule	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	60
HP:0012733	HP:0001034	Hypermelanotic macule	1	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis		10
HP:0012733	HP:0001034	Hypermelanotic macule	1	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis		4
HP:0012733	HP:0001034	Hypermelanotic macule	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0012733	HP:0001034	Hypermelanotic macule	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0012733	HP:0001034	Hypermelanotic macule	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0012733	HP:0001034	Hypermelanotic macule	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0012733	HP:0001034	Hypermelanotic macule	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0012733	HP:0001034	Hypermelanotic macule	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0012733	HP:0020073	Hypopigmented macule	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0012733	HP:0020073	Hypopigmented macule	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0012733	HP:0001034	Hypermelanotic macule	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0012733	HP:0020073	Hypopigmented macule	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0012733	HP:0020073	Hypopigmented macule	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0012733	HP:0001034	Hypermelanotic macule	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0012733	HP:0001034	Hypermelanotic macule	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0012733	HP:0001034	Hypermelanotic macule	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	1
HP:0012733	HP:0001034	Hypermelanotic macule	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0012733	HP:0001034	Hypermelanotic macule	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0012733	HP:0001034	Hypermelanotic macule	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	8
HP:0012733	HP:0001034	Hypermelanotic macule	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0012733	HP:0001034	Hypermelanotic macule	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0012733	HP:0001034	Hypermelanotic macule	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0012733	HP:0001034	Hypermelanotic macule	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0012733	HP:0001034	Hypermelanotic macule	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	40
HP:0012733	HP:0001034	Hypermelanotic macule	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0012733	HP:0001034	Hypermelanotic macule	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0012733	HP:0001034	Hypermelanotic macule	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0012733	HP:0001034	Hypermelanotic macule	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0012733	HP:0001034	Hypermelanotic macule	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0012733	HP:0000957	Cafe-au-lait spot	2	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria		20
HP:0012733	HP:0000957	Cafe-au-lait spot	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0012733	HP:0000957	Cafe-au-lait spot	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0012733	HP:0000957	Cafe-au-lait spot	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0012733	HP:0000957	Cafe-au-lait spot	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0012733	HP:0000957	Cafe-au-lait spot	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0012733	HP:0000957	Cafe-au-lait spot	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0012733	HP:0000957	Cafe-au-lait spot	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0012733	HP:0000957	Cafe-au-lait spot	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0012733	HP:0001003	Multiple lentigines	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0012733	HP:0001003	Multiple lentigines	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0012733	HP:0001003	Multiple lentigines	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0012733	HP:0001003	Multiple lentigines	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0012733	HP:0000957	Cafe-au-lait spot	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0012733	HP:0000957	Cafe-au-lait spot	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0012733	HP:0005605	Large cafe-au-lait macules with irregular margins	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0012733	HP:0007449	Confetti-like hypopigmented macules	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0012733	HP:0007449	Confetti-like hypopigmented macules	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0012733	HP:0005605	Large cafe-au-lait macules with irregular margins	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0012733	HP:0007449	Confetti-like hypopigmented macules	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0012733	HP:0000957	Cafe-au-lait spot	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0012733	HP:0007449	Confetti-like hypopigmented macules	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0012733	HP:0005605	Large cafe-au-lait macules with irregular margins	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0012733	HP:0005605	Large cafe-au-lait macules with irregular margins	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0012733	HP:0007449	Confetti-like hypopigmented macules	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0012733	HP:0000957	Cafe-au-lait spot	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0012733	HP:0000957	Cafe-au-lait spot	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0012733	HP:0000957	Cafe-au-lait spot	2	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0012733	HP:0000957	Cafe-au-lait spot	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0012733	HP:0007412	Macular hyperpigmented dermopathy	2	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0012733	HP:0000957	Cafe-au-lait spot	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0012733	HP:0000957	Cafe-au-lait spot	2	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0012733	HP:0000957	Cafe-au-lait spot	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.	291
HP:0012733	HP:0000957	Cafe-au-lait spot	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0012733	HP:0000957	Cafe-au-lait spot	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0012733	HP:0001003	Multiple lentigines	2	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13
HP:0012733	HP:0001003	Multiple lentigines	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0012733	HP:0000957	Cafe-au-lait spot	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.	250
HP:0012733	HP:0000957	Cafe-au-lait spot	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0012733	HP:0000957	Cafe-au-lait spot	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.	53
HP:0012733	HP:0000957	Cafe-au-lait spot	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0012733	HP:0000957	Cafe-au-lait spot	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0012733	HP:0005605	Large cafe-au-lait macules with irregular margins	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040281 - Very frequent	101
HP:0012733	HP:0005605	Large cafe-au-lait macules with irregular margins	2	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0012733	HP:0000957	Cafe-au-lait spot	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012733	HP:0000957	Cafe-au-lait spot	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0012733	HP:0000957	Cafe-au-lait spot	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012733	HP:0000957	Cafe-au-lait spot	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0012733	HP:0007449	Confetti-like hypopigmented macules	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0012733	HP:0009719	Hypomelanotic macule	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040281 - Very frequent	23
HP:0012733	HP:0009719	Hypomelanotic macule	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0012733	HP:0000957	Cafe-au-lait spot	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0012733	HP:0000957	Cafe-au-lait spot	2	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:0012733	HP:0000957	Cafe-au-lait spot	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0012733	HP:0000957	Cafe-au-lait spot	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0012733	HP:0000957	Cafe-au-lait spot	2	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0012733	HP:0001003	Multiple lentigines	2	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0012733	HP:0000957	Cafe-au-lait spot	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0012733	HP:0001003	Multiple lentigines	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0012733	HP:0009719	Hypomelanotic macule	2	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional	110
HP:0012733	HP:0009719	Hypomelanotic macule	2	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	110
HP:0012733	HP:0009719	Hypomelanotic macule	2	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional	173
HP:0012733	HP:0009719	Hypomelanotic macule	2	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	173
HP:0012733	HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules	2	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.	173
HP:0012733	HP:0000957	Cafe-au-lait spot	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0012733	HP:0000957	Cafe-au-lait spot	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0012733	HP:0001003	Multiple lentigines	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0012733	HP:0001003	Multiple lentigines	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0012733	HP:0001003	Multiple lentigines	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0012733	HP:0001003	Multiple lentigines	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0012733	HP:0007449	Confetti-like hypopigmented macules	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0012733	HP:0005605	Large cafe-au-lait macules with irregular margins	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0012733	HP:0007449	Confetti-like hypopigmented macules	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0012733	HP:0000957	Cafe-au-lait spot	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0012733	HP:0000957	Cafe-au-lait spot	2	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0012733	HP:0000957	Cafe-au-lait spot	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0012733	HP:0000957	Cafe-au-lait spot	2	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:0012733	HP:0000957	Cafe-au-lait spot	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.	1952
HP:0012733	HP:0000957	Cafe-au-lait spot	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0012733	HP:0000957	Cafe-au-lait spot	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0012733	HP:0000957	Cafe-au-lait spot	2	NF1 CL E G H	4763	7765	ORPHA:638