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:0001053	HP:0001053	Hypopigmented skin patches	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent	20
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0001053	HP:0001053	Hypopigmented skin patches	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040283 - Occasional	92
HP:0001053	HP:0001053	Hypopigmented skin patches	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0001053	HP:0001053	Hypopigmented skin patches	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0001053	HP:0001053	Hypopigmented skin patches	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	5769
HP:0001053	HP:0001053	Hypopigmented skin patches	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	7642
HP:0001053	HP:0001053	Hypopigmented skin patches	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1086
HP:0001053	HP:0001053	Hypopigmented skin patches	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional	109
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CIB1 CL E G H	10519	16920	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional
HP:0001053	HP:0001053	Hypopigmented skin patches	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0001053	HP:0001053	Hypopigmented skin patches	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	6
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent	10
HP:0001053	HP:0001053	Hypopigmented skin patches	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional	50
HP:0001053	HP:0001053	Hypopigmented skin patches	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	30
HP:0001053	HP:0001053	Hypopigmented skin patches	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0001053	HP:0001053	Hypopigmented skin patches	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0001053	HP:0001053	Hypopigmented skin patches	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0001053	HP:0001053	Hypopigmented skin patches	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	55
HP:0001053	HP:0001053	Hypopigmented skin patches	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	106
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	54
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	158
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	158
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	83
HP:0001053	HP:0001053	Hypopigmented skin patches	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	340
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	58
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	410
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	147
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	87
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	157
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	53
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	107
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	59
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0001053	HP:0001053	Hypopigmented skin patches	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040283 - Occasional	145
HP:0001053	HP:0001053	Hypopigmented skin patches	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	160
HP:0001053	HP:0001053	Hypopigmented skin patches	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0001053	HP:0001053	Hypopigmented skin patches	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	11
HP:0001053	HP:0001053	Hypopigmented skin patches	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0001053	HP:0001053	Hypopigmented skin patches	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0001053	HP:0001053	Hypopigmented skin patches	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040281 - Very frequent	52
HP:0001053	HP:0001053	Hypopigmented skin patches	0	IL7 CL E G H	3574	6023	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent
HP:0001053	HP:0001053	Hypopigmented skin patches	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0001053	HP:0001053	Hypopigmented skin patches	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0001053	HP:0001053	Hypopigmented skin patches	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0001053	HP:0001053	Hypopigmented skin patches	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040282 - Frequent	327
HP:0001053	HP:0001053	Hypopigmented skin patches	0	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0001053	HP:0001053	Hypopigmented skin patches	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	9
HP:0001053	HP:0001053	Hypopigmented skin patches	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0001053	HP:0001053	Hypopigmented skin patches	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		110
HP:0001053	HP:0001053	Hypopigmented skin patches	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		110
HP:0001053	HP:0001053	Hypopigmented skin patches	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form		173
HP:0001053	HP:0001053	Hypopigmented skin patches	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0001053	HP:0001053	Hypopigmented skin patches	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1
HP:0001053	HP:0001053	Hypopigmented skin patches	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0001053	HP:0001053	Hypopigmented skin patches	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	124
HP:0001053	HP:0001053	Hypopigmented skin patches	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	91
HP:0001053	HP:0001053	Hypopigmented skin patches	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0001053	HP:0001053	Hypopigmented skin patches	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	3
HP:0001053	HP:0001053	Hypopigmented skin patches	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0001053	HP:0001053	Hypopigmented skin patches	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0001053	HP:0001053	Hypopigmented skin patches	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0001053	HP:0001053	Hypopigmented skin patches	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional	102
HP:0001053	HP:0001053	Hypopigmented skin patches	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1349
HP:0001053	HP:0001053	Hypopigmented skin patches	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0001053	HP:0001053	Hypopigmented skin patches	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent	59
HP:0001053	HP:0001053	Hypopigmented skin patches	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0001053	HP:0001053	Hypopigmented skin patches	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0001053	HP:0001053	Hypopigmented skin patches	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0001053	HP:0001053	Hypopigmented skin patches	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	81
HP:0001053	HP:0001053	Hypopigmented skin patches	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0001053	HP:0001053	Hypopigmented skin patches	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	3
HP:0001053	HP:0001053	Hypopigmented skin patches	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	9
HP:0001053	HP:0001053	Hypopigmented skin patches	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	391
HP:0001053	HP:0001053	Hypopigmented skin patches	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0001053	HP:0001053	Hypopigmented skin patches	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001053	HP:0001053	Hypopigmented skin patches	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040283 - Occasional	12
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	274
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040281 - Very frequent	22
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040282 - Frequent	19
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	19
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent	61
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	61
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0001053	HP:0001053	Hypopigmented skin patches	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.	61
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional	241
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TMC6 CL E G H	11322	18021	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent	10
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TMC8 CL E G H	147138	20474	ORPHA:302	Epidermodysplasia verruciformis	HP:0040282 - Frequent	4
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040283 - Occasional	7
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0001053	HP:0001053	Hypopigmented skin patches	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040282 - Frequent	146
HP:0001053	HP:0001053	Hypopigmented skin patches	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0001053	HP:0001053	Hypopigmented skin patches	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	2
HP:0001053	HP:0001053	Hypopigmented skin patches	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001053	HP:0001053	Hypopigmented skin patches	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0001053	HP:0001053	Hypopigmented skin patches	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0001053	HP:0001053	Hypopigmented skin patches	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0001053	HP:0001053	Hypopigmented skin patches	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	34
HP:0001053	HP:0001053	Hypopigmented skin patches	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040282 - Frequent	86
HP:0001053	HP:0001053	Hypopigmented skin patches	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	125
HP:0001053	HP:0005593	Macular hypopigmented whorls, streaks, and patches	1	CL E G H
HP:0001053	HP:0005590	Spotty hypopigmentation	1	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040281 - Very frequent	20
HP:0001053	HP:0005590	Spotty hypopigmentation	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001053	HP:0007526	Hypopigmented skin patches on arms	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0001053	HP:0005590	Spotty hypopigmentation	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0001053	HP:0005590	Spotty hypopigmentation	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.	4
HP:0001053	HP:0005590	Spotty hypopigmentation	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0001053	HP:0005590	Spotty hypopigmentation	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.	136
HP:0001053	HP:0005590	Spotty hypopigmentation	1	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040282 - Frequent	110
HP:0001053	HP:0005590	Spotty hypopigmentation	1	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	110
HP:0001053	HP:0005590	Spotty hypopigmentation	1	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040282 - Frequent	173
HP:0001053	HP:0005590	Spotty hypopigmentation	1	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040282 - Frequent	173
HP:0001053	HP:0005590	Spotty hypopigmentation	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7