Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Localized skin lesion (HP:0011355)

Parent Node:
Irregular hyperpigmentation (HP:0007400)

Parent Node:
Macule (HP:0012733)

..Starting node
..Hypermelanotic macule (HP:0001034)

Term ID:

1034

Name:

Hypermelanotic macule

Synonym:

Hyperpigmented macules; Hyperpigmented skin patches; Hyperpigmented spots

Definition:

A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.

Comments:

Reference:

HP:0001034

Genes and Diseases:

Child Nodes:

........

Multiple lentigines (HP:0001003)

........

Large cafe-au-lait macules with irregular margins (HP:0005605)

........

Macular hyperpigmented dermopathy (HP:0007412)

........

Mongolian blue spot (HP:0011369)

Sister Nodes:

Erythematous macule (HP:0025475)

Hyperpigmented/hypopigmented macules (HP:0007441)

Hypomelanotic macule (HP:0009719)

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:0001034	HP:0001034	Hypermelanotic macule	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent	20
HP:0001034	HP:0001034	Hypermelanotic macule	0	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0001034	HP:0001034	Hypermelanotic macule	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001034	HP:0001034	Hypermelanotic macule	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0001034	HP:0001034	Hypermelanotic macule	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent	72
HP:0001034	HP:0001034	Hypermelanotic macule	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0001034	HP:0001034	Hypermelanotic macule	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0001034	HP:0001034	Hypermelanotic macule	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0001034	HP:0001034	Hypermelanotic macule	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0001034	HP:0001034	Hypermelanotic macule	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0001034	HP:0001034	Hypermelanotic macule	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0001034	HP:0001034	Hypermelanotic macule	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0001034	HP:0001034	Hypermelanotic macule	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040281 - Very frequent	86
HP:0001034	HP:0001034	Hypermelanotic macule	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	HP:0040283 - Occasional	86
HP:0001034	HP:0001034	Hypermelanotic macule	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0001034	HP:0001034	Hypermelanotic macule	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0001034	HP:0001034	Hypermelanotic macule	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0001034	HP:0001034	Hypermelanotic macule	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0001034	HP:0001034	Hypermelanotic macule	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0001034	HP:0001034	Hypermelanotic macule	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001034	HP:0001034	Hypermelanotic macule	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	15
HP:0001034	HP:0001034	Hypermelanotic macule	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040281 - Very frequent	7
HP:0001034	HP:0001034	Hypermelanotic macule	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0001034	HP:0001034	Hypermelanotic macule	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0001034	HP:0001034	Hypermelanotic macule	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0001034	HP:0001034	Hypermelanotic macule	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0001034	HP:0001034	Hypermelanotic macule	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0001034	HP:0001034	Hypermelanotic macule	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0001034	HP:0001034	Hypermelanotic macule	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0001034	HP:0001034	Hypermelanotic macule	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001034	HP:0001034	Hypermelanotic macule	0	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0001034	HP:0001034	Hypermelanotic macule	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0001034	HP:0001034	Hypermelanotic macule	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0001034	HP:0001034	Hypermelanotic macule	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0001034	HP:0001034	Hypermelanotic macule	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001034	HP:0001034	Hypermelanotic macule	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001034	HP:0001034	Hypermelanotic macule	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	160
HP:0001034	HP:0001034	Hypermelanotic macule	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0001034	HP:0001034	Hypermelanotic macule	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0001034	HP:0001034	Hypermelanotic macule	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0001034	HP:0001034	Hypermelanotic macule	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0001034	HP:0001034	Hypermelanotic macule	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0001034	HP:0001034	Hypermelanotic macule	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0001034	HP:0001034	Hypermelanotic macule	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	65
HP:0001034	HP:0001034	Hypermelanotic macule	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23		13
HP:0001034	HP:0001034	Hypermelanotic macule	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0001034	HP:0001034	Hypermelanotic macule	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	20
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	158
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	199
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	199
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional	55
HP:0001034	HP:0001034	Hypermelanotic macule	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional	55
HP:0001034	HP:0001034	Hypermelanotic macule	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0001034	HP:0001034	Hypermelanotic macule	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0001034	HP:0001034	Hypermelanotic macule	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040283 - Occasional	145
HP:0001034	HP:0001034	Hypermelanotic macule	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	68
HP:0001034	HP:0001034	Hypermelanotic macule	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	74
HP:0001034	HP:0001034	Hypermelanotic macule	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	12
HP:0001034	HP:0001034	Hypermelanotic macule	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0001034	HP:0001034	Hypermelanotic macule	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040281 - Very frequent	7
HP:0001034	HP:0001034	Hypermelanotic macule	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0001034	HP:0001034	Hypermelanotic macule	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0001034	HP:0001034	Hypermelanotic macule	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040283 - Occasional	101
HP:0001034	HP:0001034	Hypermelanotic macule	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001034	HP:0001034	Hypermelanotic macule	0	GPNMB CL E G H	10457	4462	OMIM:617920	Amyloidosis, primary localized cutaneous, 3	.
HP:0001034	HP:0001034	Hypermelanotic macule	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0001034	HP:0001034	Hypermelanotic macule	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001034	HP:0001034	Hypermelanotic macule	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0001034	HP:0001034	Hypermelanotic macule	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0001034	HP:0001034	Hypermelanotic macule	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0001034	HP:0001034	Hypermelanotic macule	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0001034	HP:0001034	Hypermelanotic macule	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0001034	HP:0001034	Hypermelanotic macule	0	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to	.	2
HP:0001034	HP:0001034	Hypermelanotic macule	0	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0001034	HP:0001034	Hypermelanotic macule	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0001034	HP:0001034	Hypermelanotic macule	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0001034	HP:0001034	Hypermelanotic macule	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0001034	HP:0001034	Hypermelanotic macule	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0001034	HP:0001034	Hypermelanotic macule	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0001034	HP:0001034	Hypermelanotic macule	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0001034	HP:0001034	Hypermelanotic macule	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	4
HP:0001034	HP:0001034	Hypermelanotic macule	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0001034	HP:0001034	Hypermelanotic macule	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma	HP:0040283 - Occasional	327
HP:0001034	HP:0001034	Hypermelanotic macule	0	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.	327
HP:0001034	HP:0001034	Hypermelanotic macule	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0001034	HP:0001034	Hypermelanotic macule	0	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0001034	HP:0001034	Hypermelanotic macule	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0001034	HP:0001034	Hypermelanotic macule	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0001034	HP:0001034	Hypermelanotic macule	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0001034	HP:0001034	Hypermelanotic macule	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional	110
HP:0001034	HP:0001034	Hypermelanotic macule	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	110
HP:0001034	HP:0001034	Hypermelanotic macule	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040283 - Occasional	173
HP:0001034	HP:0001034	Hypermelanotic macule	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0001034	HP:0001034	Hypermelanotic macule	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	173
HP:0001034	HP:0001034	Hypermelanotic macule	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0001034	HP:0001034	Hypermelanotic macule	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001034	HP:0001034	Hypermelanotic macule	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001034	HP:0001034	Hypermelanotic macule	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0001034	HP:0001034	Hypermelanotic macule	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0001034	HP:0001034	Hypermelanotic macule	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0001034	HP:0001034	Hypermelanotic macule	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001034	HP:0001034	Hypermelanotic macule	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0001034	HP:0001034	Hypermelanotic macule	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0001034	HP:0001034	Hypermelanotic macule	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0001034	HP:0001034	Hypermelanotic macule	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001034	HP:0001034	Hypermelanotic macule	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0001034	HP:0001034	Hypermelanotic macule	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0001034	HP:0001034	Hypermelanotic macule	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0001034	HP:0001034	Hypermelanotic macule	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0001034	HP:0001034	Hypermelanotic macule	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0001034	HP:0001034	Hypermelanotic macule	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0001034	HP:0001034	Hypermelanotic macule	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001034	HP:0001034	Hypermelanotic macule	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0001034	HP:0001034	Hypermelanotic macule	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome		68
HP:0001034	HP:0001034	Hypermelanotic macule	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0001034	HP:0001034	Hypermelanotic macule	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0001034	HP:0001034	Hypermelanotic macule	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0001034	HP:0001034	Hypermelanotic macule	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0001034	HP:0001034	Hypermelanotic macule	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0001034	HP:0001034	Hypermelanotic macule	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0001034	HP:0001034	Hypermelanotic macule	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0001034	HP:0001034	Hypermelanotic macule	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal		1952
HP:0001034	HP:0001034	Hypermelanotic macule	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0001034	HP:0001034	Hypermelanotic macule	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0001034	HP:0001034	Hypermelanotic macule	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0001034	HP:0001034	Hypermelanotic macule	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0001034	HP:0001034	Hypermelanotic macule	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0001034	HP:0001034	Hypermelanotic macule	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	27
HP:0001034	HP:0001034	Hypermelanotic macule	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	17
HP:0001034	HP:0001034	Hypermelanotic macule	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	12
HP:0001034	HP:0001034	Hypermelanotic macule	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001034	HP:0001034	Hypermelanotic macule	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0001034	HP:0001034	Hypermelanotic macule	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0001034	HP:0001034	Hypermelanotic macule	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	26
HP:0001034	HP:0001034	Hypermelanotic macule	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0001034	HP:0001034	Hypermelanotic macule	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0001034	HP:0001034	Hypermelanotic macule	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0001034	HP:0001034	Hypermelanotic macule	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0001034	HP:0001034	Hypermelanotic macule	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0001034	HP:0001034	Hypermelanotic macule	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0001034	HP:0001034	Hypermelanotic macule	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0001034	HP:0001034	Hypermelanotic macule	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0001034	HP:0001034	Hypermelanotic macule	0	PLEC CL E G H	5339	9069	ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	HP:0040282 - Frequent	759
HP:0001034	HP:0001034	Hypermelanotic macule	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0001034	HP:0001034	Hypermelanotic macule	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0001034	HP:0001034	Hypermelanotic macule	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0001034	HP:0001034	Hypermelanotic macule	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0001034	HP:0001034	Hypermelanotic macule	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001034	HP:0001034	Hypermelanotic macule	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134
HP:0001034	HP:0001034	Hypermelanotic macule	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0001034	HP:0001034	Hypermelanotic macule	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0001034	HP:0001034	Hypermelanotic macule	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0001034	HP:0001034	Hypermelanotic macule	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0001034	HP:0001034	Hypermelanotic macule	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0001034	HP:0001034	Hypermelanotic macule	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1		291
HP:0001034	HP:0001034	Hypermelanotic macule	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001034	HP:0001034	Hypermelanotic macule	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0001034	HP:0001034	Hypermelanotic macule	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0001034	HP:0001034	Hypermelanotic macule	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0001034	HP:0001034	Hypermelanotic macule	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0001034	HP:0001034	Hypermelanotic macule	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0001034	HP:0001034	Hypermelanotic macule	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0001034	HP:0001034	Hypermelanotic macule	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0001034	HP:0001034	Hypermelanotic 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:0001034	HP:0001034	Hypermelanotic macule	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0001034	HP:0001034	Hypermelanotic macule	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0001034	HP:0001034	Hypermelanotic macule	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001034	HP:0001034	Hypermelanotic macule	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	77
HP:0001034	HP:0001034	Hypermelanotic macule	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0001034	HP:0001034	Hypermelanotic macule	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0001034	HP:0001034	Hypermelanotic macule	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0001034	HP:0001034	Hypermelanotic macule	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0001034	HP:0001034	Hypermelanotic macule	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0001034	HP:0001034	Hypermelanotic macule	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0001034	HP:0001034	Hypermelanotic macule	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001034	HP:0001034	Hypermelanotic macule	0	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome		143
HP:0001034	HP:0001034	Hypermelanotic macule	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001034	HP:0001034	Hypermelanotic macule	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001034	HP:0001034	Hypermelanotic macule	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001034	HP:0001034	Hypermelanotic macule	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001034	HP:0001034	Hypermelanotic macule	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001034	HP:0001034	Hypermelanotic macule	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0001034	HP:0001034	Hypermelanotic macule	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P		274
HP:0001034	HP:0001034	Hypermelanotic macule	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0001034	HP:0001034	Hypermelanotic macule	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome		6
HP:0001034	HP:0001034	Hypermelanotic macule	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0001034	HP:0001034	Hypermelanotic macule	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0001034	HP:0001034	Hypermelanotic macule	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0001034	HP:0001034	Hypermelanotic macule	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0001034	HP:0001034	Hypermelanotic macule	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001034	HP:0001034	Hypermelanotic macule	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.	47
HP:0001034	HP:0001034	Hypermelanotic macule	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0001034	HP:0001034	Hypermelanotic macule	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts		1
HP:0001034	HP:0001034	Hypermelanotic macule	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0001034	HP:0001034	Hypermelanotic macule	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0001034	HP:0001034	Hypermelanotic macule	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001034	HP:0001034	Hypermelanotic macule	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	48
HP:0001034	HP:0001034	Hypermelanotic macule	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	238
HP:0001034	HP:0001034	Hypermelanotic macule	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	60
HP:0001034	HP:0001034	Hypermelanotic macule	0	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis		10
HP:0001034	HP:0001034	Hypermelanotic macule	0	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis		4
HP:0001034	HP:0001034	Hypermelanotic macule	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0001034	HP:0001034	Hypermelanotic macule	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0001034	HP:0001034	Hypermelanotic macule	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001034	HP:0001034	Hypermelanotic macule	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0001034	HP:0001034	Hypermelanotic macule	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0001034	HP:0001034	Hypermelanotic macule	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0001034	HP:0001034	Hypermelanotic macule	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0001034	HP:0001034	Hypermelanotic macule	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0001034	HP:0001034	Hypermelanotic macule	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0001034	HP:0001034	Hypermelanotic macule	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	1
HP:0001034	HP:0001034	Hypermelanotic macule	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0001034	HP:0001034	Hypermelanotic macule	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0001034	HP:0001034	Hypermelanotic macule	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	8
HP:0001034	HP:0001034	Hypermelanotic macule	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0001034	HP:0001034	Hypermelanotic macule	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0001034	HP:0001034	Hypermelanotic macule	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001034	HP:0001034	Hypermelanotic macule	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001034	HP:0001034	Hypermelanotic macule	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	40
HP:0001034	HP:0001034	Hypermelanotic macule	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0001034	HP:0001034	Hypermelanotic macule	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0001034	HP:0001034	Hypermelanotic macule	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0001034	HP:0001034	Hypermelanotic macule	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0001034	HP:0001034	Hypermelanotic macule	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0001034	HP:0000957	Cafe-au-lait spot	1	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria		20
HP:0001034	HP:0000957	Cafe-au-lait spot	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001034	HP:0000957	Cafe-au-lait spot	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0001034	HP:0000957	Cafe-au-lait spot	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0001034	HP:0000957	Cafe-au-lait spot	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1		2
HP:0001034	HP:0000957	Cafe-au-lait spot	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0001034	HP:0000957	Cafe-au-lait spot	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita		1
HP:0001034	HP:0000957	Cafe-au-lait spot	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001034	HP:0000957	Cafe-au-lait spot	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia		3267
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0001034	HP:0001003	Multiple lentigines	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0001034	HP:0001003	Multiple lentigines	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0001034	HP:0001003	Multiple lentigines	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001034	HP:0001003	Multiple lentigines	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0001034	HP:0000957	Cafe-au-lait spot	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001034	HP:0000957	Cafe-au-lait spot	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0001034	HP:0005605	Large cafe-au-lait macules with irregular margins	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0001034	HP:0005605	Large cafe-au-lait macules with irregular margins	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0001034	HP:0000957	Cafe-au-lait spot	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0001034	HP:0005605	Large cafe-au-lait macules with irregular margins	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0001034	HP:0005605	Large cafe-au-lait macules with irregular margins	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0001034	HP:0000957	Cafe-au-lait spot	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0001034	HP:0000957	Cafe-au-lait spot	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001034	HP:0000957	Cafe-au-lait spot	1	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis
HP:0001034	HP:0000957	Cafe-au-lait spot	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development		102
HP:0001034	HP:0007412	Macular hyperpigmented dermopathy	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0001034	HP:0000957	Cafe-au-lait spot	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0001034	HP:0000957	Cafe-au-lait spot	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001034	HP:0000957	Cafe-au-lait spot	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.	291
HP:0001034	HP:0000957	Cafe-au-lait spot	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0001034	HP:0000957	Cafe-au-lait spot	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0001034	HP:0001003	Multiple lentigines	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13
HP:0001034	HP:0001003	Multiple lentigines	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0001034	HP:0000957	Cafe-au-lait spot	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.	250
HP:0001034	HP:0000957	Cafe-au-lait spot	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0001034	HP:0000957	Cafe-au-lait spot	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	.	53
HP:0001034	HP:0000957	Cafe-au-lait spot	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0001034	HP:0000957	Cafe-au-lait spot	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita		16
HP:0001034	HP:0005605	Large cafe-au-lait macules with irregular margins	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040281 - Very frequent	101
HP:0001034	HP:0005605	Large cafe-au-lait macules with irregular margins	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0001034	HP:0000957	Cafe-au-lait spot	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001034	HP:0000957	Cafe-au-lait spot	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0001034	HP:0000957	Cafe-au-lait spot	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001034	HP:0000957	Cafe-au-lait spot	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0001034	HP:0000957	Cafe-au-lait spot	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0001034	HP:0000957	Cafe-au-lait spot	1	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:0001034	HP:0000957	Cafe-au-lait spot	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0001034	HP:0000957	Cafe-au-lait spot	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0001034	HP:0000957	Cafe-au-lait spot	1	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0001034	HP:0001003	Multiple lentigines	1	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0001034	HP:0000957	Cafe-au-lait spot	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0001034	HP:0001003	Multiple lentigines	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0001034	HP:0000957	Cafe-au-lait spot	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001034	HP:0000957	Cafe-au-lait spot	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0001034	HP:0001003	Multiple lentigines	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0001034	HP:0001003	Multiple lentigines	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0001034	HP:0001003	Multiple lentigines	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome		178
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001034	HP:0001003	Multiple lentigines	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0001034	HP:0005605	Large cafe-au-lait macules with irregular margins	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0001034	HP:0000957	Cafe-au-lait spot	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0001034	HP:0000957	Cafe-au-lait spot	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0001034	HP:0000957	Cafe-au-lait spot	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0001034	HP:0000957	Cafe-au-lait spot	1	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:0001034	HP:0000957	Cafe-au-lait spot	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.	1952
HP:0001034	HP:0000957	Cafe-au-lait spot	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0001034	HP:0000957	Cafe-au-lait spot	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0001034	HP:0000957	Cafe-au-lait spot	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome		1952
HP:0001034	HP:0000957	Cafe-au-lait spot	1	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0001034	HP:0000957	Cafe-au-lait spot	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0001034	HP:0001003	Multiple lentigines	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001034	HP:0000957	Cafe-au-lait spot	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6		102
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.	1349
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0001034	HP:0001003	Multiple lentigines	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040281 - Very frequent	13
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040284 - Very rare	13
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040284 - Very rare	134
HP:0001034	HP:0001003	Multiple lentigines	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040281 - Very frequent	134
HP:0001034	HP:0001003	Multiple lentigines	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1		134
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0001034	HP:0001003	Multiple lentigines	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0001034	HP:0000957	Cafe-au-lait spot	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001034	HP:0001003	Multiple lentigines	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0001034	HP:0000957	Cafe-au-lait spot	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0001034	HP:0000957	Cafe-au-lait spot	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0001034	HP:0001003	Multiple lentigines	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0001034	HP:0000957	Cafe-au-lait spot	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0001034	HP:0000957	Cafe-au-lait spot	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0001034	HP:0001003	Multiple lentigines	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0001034	HP:0001003	Multiple lentigines	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0001034	HP:0000957	Cafe-au-lait spot	1	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0001034	HP:0000957	Cafe-au-lait spot	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001034	HP:0000957	Cafe-au-lait spot	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0001034	HP:0000957	Cafe-au-lait spot	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0001034	HP:0000957	Cafe-au-lait spot	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SETBP1 CL E G H	26040	15573	ORPHA:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	HP:0040283 - Occasional	143
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001034	HP:0001003	Multiple lentigines	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	.	274
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0001034	HP:0001003	Multiple lentigines	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0001034	HP:0000957	Cafe-au-lait spot	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001034	HP:0000957	Cafe-au-lait spot	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	HP:0040283 - Occasional	1
HP:0001034	HP:0000957	Cafe-au-lait spot	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040283 - Occasional	1
HP:0001034	HP:0001003	Multiple lentigines	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040281 - Very frequent	740
HP:0001034	HP:0011369	Mongolian blue spot	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis		10
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis		4
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0001034	HP:0000957	Cafe-au-lait spot	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III		7
HP:0001034	HP:0000957	Cafe-au-lait spot	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0001034	HP:0000957	Cafe-au-lait spot	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001034	HP:0000957	Cafe-au-lait spot	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0001034	HP:0000957	Cafe-au-lait spot	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0001034	HP:0000957	Cafe-au-lait spot	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001034	HP:0000957	Cafe-au-lait spot	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001034	HP:0000957	Cafe-au-lait spot	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0001034	HP:0000957	Cafe-au-lait spot	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040282 - Frequent	20
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040283 - Occasional	3267
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0001034	HP:0007429	Few cafe-au-lait spots	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG		73
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0001034	HP:0007429	Few cafe-au-lait spots	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare	93
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	178
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040281 - Very frequent	1952
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent	1952
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.	1952
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001034	HP:0007429	Few cafe-au-lait spots	2	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional	3
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0001034	HP:0007429	Few cafe-au-lait spots	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent	10
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent	4
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0001034	HP:0007429	Few cafe-au-lait spots	2	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040283 - Occasional	7
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0001034	HP:0007565	Multiple cafe-au-lait spots	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125

Genes (189) :ABCB6 ABCC9 ACP5 ACTB AKT1 ANAPC1 APC ARL6IP6 ATM ATP2A2 BLM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C1R C1S CBL CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CEP57 CIB1 CLCN7 COL17A1 COL25A1 COPB1 CREBBP CTC1 CWC27 CYBA CYBB CYBC1 DDB2 DKC1 DSTYK EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR3 GJA1 GJB3 GJB4 GNA11 GNAQ GNAS GNB2 GPNMB H19-ICR H4C5 HMGA2 IFNG IGF1 IGF2 IL6 IL7 INSR KANSL1 KDM5C KDM6A KDM6B KDSR KIF1B KIT KITLG KLLN KMT2D KRAS KRT14 KRT5 LMNA LZTR1 MAD2L2 MAN1B1 MAP2K1 MAP2K2 MAPK1 MAX MED12 MEN1 MLH1 MMP2 MSH2 MSH6 MTOR NBN NCF1 NCF2 NCF4 NF1 NF2 NHP2 NOP10 NPM1 NRAS PALB2 PARN PCNT PDE11A PHIP PIK3CA PLAG1 PLEC PLXND1 PMS2 POFUT1 POGLUT1 PPP1CB PRKAR1A PSENEN PTEN PTPN11 RAD51 RAD51C RAF1 RBBP8 RERE RET REV3L RFWD3 RTEL1 SDHB SDHC SDHD SEC23B SET SETBP1 SH3PXD2B SHOC2 SKIC2 SKIC3 SLX4 SMARCA2 SMARCAD1 SMARCAL1 SOX10 SPRED1 ST3GAL5 STEAP3 STK11 SVBP TERC TERT TINF2 TMC6 TMC8 TMEM127 TNFRSF1A TOP3A TP63 TRIP13 TSC1 TSC2 TWIST2 TYMS UBE2T UBR1 USB1 USF3 VHL WASF1 WBP11 WRAP53 XPA XPC XRCC2 ZFHX4 ZMPSTE24

Diseases (153) :ORPHA:241 OMIM:615402 OMIM:619719 OMIM:607944 ORPHA:64755 ORPHA:201 ORPHA:744 OMIM:618625 ORPHA:99818 ORPHA:1556 ORPHA:100 OMIM:208900 ORPHA:218 OMIM:124200 OMIM:210900 ORPHA:125 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 ORPHA:500 ORPHA:84 OMIM:605724 OMIM:609054 ORPHA:1052 ORPHA:75392 OMIM:613563 ORPHA:652 ORPHA:397590 OMIM:614114 ORPHA:302 OMIM:618541 OMIM:619787 ORPHA:91411 OMIM:619255 OMIM:180849 ORPHA:1775 ORPHA:166035 OMIM:250410 ORPHA:379 ORPHA:910 ORPHA:101003 OMIM:270750 ORPHA:90322 ORPHA:90321 OMIM:278800 OMIM:268300 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:614082 OMIM:609053 OMIM:614083 ORPHA:53271 ORPHA:317 ORPHA:624 ORPHA:562 OMIM:174800 ORPHA:2762 OMIM:619503 OMIM:617920 OMIM:180860 OMIM:619950 OMIM:613254 ORPHA:73272 OMIM:148000 OMIM:246200 ORPHA:363958 ORPHA:363965 ORPHA:85279 OMIM:147920 OMIM:618505 OMIM:171300 ORPHA:79455 OMIM:154800 OMIM:619947 OMIM:145250 ORPHA:79399 ORPHA:79397 ORPHA:79145 ORPHA:740 OMIM:616564 OMIM:605275 ORPHA:397941 OMIM:615280 ORPHA:638 OMIM:619087 OMIM:300895 OMIM:131100 OMIM:276300 OMIM:259600 OMIM:619096 OMIM:619097 ORPHA:457485 OMIM:616638 OMIM:251260 ORPHA:97685 ORPHA:363700 OMIM:162210 OMIM:162200 OMIM:601321 OMIM:193520 OMIM:101000 OMIM:613224 OMIM:610832 ORPHA:2637 OMIM:210720 ORPHA:1359 OMIM:617991 ORPHA:589905 ORPHA:60040 ORPHA:79401 ORPHA:570 OMIM:619101 OMIM:617506 OMIM:160980 ORPHA:109 OMIM:151100 OMIM:611554 OMIM:611553 OMIM:606744 OMIM:616975 OMIM:618106 ORPHA:436151 OMIM:249420 OMIM:607721 ORPHA:84064 OMIM:222470 OMIM:613951 OMIM:601358 OMIM:129200 OMIM:242900 ORPHA:1830 OMIM:611584 OMIM:611431 ORPHA:137605 OMIM:609056 OMIM:615234 ORPHA:300298 ORPHA:2869 OMIM:175200 OMIM:618569 ORPHA:32960 OMIM:618097 ORPHA:69085 OMIM:617598 OMIM:191100 ORPHA:1807 OMIM:243800 OMIM:618707 OMIM:619227

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

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