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:0000992	HP:0000992	Cutaneous photosensitivity	0	ABCB6 CL E G H	10058	47	ORPHA:241	Dyschromatosis universalis hereditaria	HP:0040282 - Frequent	20
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked		72
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency	.	1
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2	.
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	COL7A1 CL E G H	1294	2214	ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form	HP:0040282 - Frequent	263
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional	72
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional	51
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.	10
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.	30
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.	83
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	20
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	106
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.	106
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC3 CL E G H	2071	3435	OMIM:616390	Trichothiodystrophy 2, photosensitive	.	54
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	158
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	.	158
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.	83
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	83
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	.	83
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	199
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	199
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1	.	199
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	55
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2	.	55
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.	6
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.	2
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	FDPS CL E G H	2224	3631	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040282 - Frequent	4
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040281 - Very frequent	145
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040281 - Very frequent	136
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	68
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	74
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	12
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.	38
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata	.	38
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent	4
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	KRT1 CL E G H	3848	6412	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040282 - Frequent	100
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	KRT10 CL E G H	3858	6413	ORPHA:312	Autosomal dominant epidermolytic ichthyosis	HP:0040282 - Frequent	45
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040283 - Occasional	110
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040283 - Occasional	173
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.	88
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	MVD CL E G H	4597	7529	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040282 - Frequent	2
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	MVK CL E G H	4598	7530	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040282 - Frequent	150
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	MVK CL E G H	4598	7530	ORPHA:735	Porokeratosis of Mibelli	HP:0040282 - Frequent	150
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease		77
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.	77
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.	1
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040281 - Very frequent	1
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040281 - Very frequent	66
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PMVK CL E G H	10654	9141	ORPHA:735	Porokeratosis of Mibelli	HP:0040282 - Frequent	3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040281 - Very frequent	155
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.	155
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent	41
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata	.	41
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional	133
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.	3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.	3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	SAMHD1 CL E G H	25939	15925	OMIM:614415	Chilblain lupus 2	.	55
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040283 - Occasional	77
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	SLC17A9 CL E G H	63910	16192	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040282 - Frequent	3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent	12
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder	.	12
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.	56
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.	31
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3	.	3
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.	34
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0000992	HP:0000992	Cutaneous photosensitivity	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9
HP:0000992	HP:0007396	Early cutaneous photosensitivity	1	CL E G H
HP:0000992	HP:0410137	Solar urticaria	1	CL E G H
HP:0000992	HP:0032381	Hydroa vacciniforme	1	CL E G H
HP:0000992	HP:0032379	Polymorphous light eruption	1	CL E G H
HP:0000992	HP:0007537	Severe photosensitivity	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000992	HP:0007537	Severe photosensitivity	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional	83
HP:0000992	HP:0007537	Severe photosensitivity	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	29
HP:0000992	HP:0007537	Severe photosensitivity	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional	77
HP:0000992	HP:0007537	Severe photosensitivity	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040281 - Very frequent	31
HP:0000992	HP:0007537	Severe photosensitivity	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040281 - Very frequent	41