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:0025104	HP:0025104	Capillary malformation	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0025104	HP:0025104	Capillary malformation	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0025104	HP:0025104	Capillary malformation	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0025104	HP:0025104	Capillary malformation	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0025104	HP:0025104	Capillary malformation	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0025104	HP:0025104	Capillary malformation	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0025104	HP:0025104	Capillary malformation	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma		101
HP:0025104	HP:0025104	Capillary malformation	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0025104	HP:0025104	Capillary malformation	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0025104	HP:0025104	Capillary malformation	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0025104	HP:0025104	Capillary malformation	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0025104	HP:0025104	Capillary malformation	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0025104	HP:0025104	Capillary malformation	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent	40
HP:0025104	HP:0025104	Capillary malformation	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0025104	HP:0025104	Capillary malformation	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040281 - Very frequent	3
HP:0025104	HP:0025104	Capillary malformation	0	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2		3
HP:0025104	HP:0025104	Capillary malformation	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0025104	HP:0025104	Capillary malformation	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0025104	HP:0025104	Capillary malformation	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei		7
HP:0025104	HP:0025104	Capillary malformation	0	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple		7
HP:0025104	HP:0025104	Capillary malformation	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0025104	HP:0025104	Capillary malformation	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0025104	HP:0025104	Capillary malformation	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0025104	HP:0025104	Capillary malformation	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0025104	HP:0025104	Capillary malformation	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0025104	HP:0025104	Capillary malformation	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0025104	HP:0025104	Capillary malformation	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0025104	HP:0025104	Capillary malformation	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0025104	HP:0025104	Capillary malformation	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0025104	HP:0025104	Capillary malformation	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0025104	HP:0025104	Capillary malformation	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0025104	HP:0025104	Capillary malformation	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma		123
HP:0025104	HP:0025104	Capillary malformation	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0025104	HP:0025104	Capillary malformation	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0025104	HP:0025104	Capillary malformation	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0025104	HP:0025104	Capillary malformation	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0025104	HP:0025104	Capillary malformation	0	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma		47
HP:0025104	HP:0025104	Capillary malformation	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0025104	HP:0025104	Capillary malformation	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0025104	HP:0025104	Capillary malformation	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0025104	HP:0025104	Capillary malformation	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome		9
HP:0025104	HP:0025104	Capillary malformation	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0025104	HP:0025104	Capillary malformation	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0025104	HP:0025104	Capillary malformation	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0025104	HP:0025104	Capillary malformation	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	.	162
HP:0025104	HP:0025104	Capillary malformation	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0025104	HP:0025104	Capillary malformation	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0025104	HP:0025104	Capillary malformation	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0025104	HP:0025104	Capillary malformation	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0025104	HP:0025104	Capillary malformation	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040281 - Very frequent	88
HP:0025104	HP:0025104	Capillary malformation	0	RASA1 CL E G H	5921	9871	OMIM:608354	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1		88
HP:0025104	HP:0025104	Capillary malformation	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0025104	HP:0025104	Capillary malformation	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0025104	HP:0025104	Capillary malformation	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0025104	HP:0025104	Capillary malformation	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0025104	HP:0025104	Capillary malformation	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0025104	HP:0025104	Capillary malformation	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0025104	HP:0025104	Capillary malformation	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0025104	HP:0025104	Capillary malformation	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0025104	HP:0025104	Capillary malformation	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma		78
HP:0025104	HP:0025104	Capillary malformation	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0025104	HP:0025104	Capillary malformation	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0025104	HP:0025104	Capillary malformation	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0025104	HP:0025104	Capillary malformation	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0025104	HP:0025104	Capillary malformation	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0025104	HP:0025108	Angioma serpentinum	1	CL E G H
HP:0025104	HP:0025106	Nevus roseus	1	CL E G H
HP:0025104	HP:0001052	Nevus flammeus	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040281 - Very frequent	145
HP:0025104	HP:0001052	Nevus flammeus	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0025104	HP:0001052	Nevus flammeus	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0025104	HP:0001052	Nevus flammeus	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0025104	HP:0001052	Nevus flammeus	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0025104	HP:0001052	Nevus flammeus	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0025104	HP:0001052	Nevus flammeus	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent	101
HP:0025104	HP:0001052	Nevus flammeus	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0025104	HP:0001052	Nevus flammeus	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0025104	HP:0001052	Nevus flammeus	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0025104	HP:0001052	Nevus flammeus	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0025104	HP:0001052	Nevus flammeus	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0025104	HP:0001052	Nevus flammeus	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0025104	HP:0001052	Nevus flammeus	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0025104	HP:0001052	Nevus flammeus	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0025104	HP:0001052	Nevus flammeus	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040281 - Very frequent	7
HP:0025104	HP:0001052	Nevus flammeus	1	GNAQ CL E G H	2776	4390	OMIM:163000	Nevi flammei, familial multiple	.	7
HP:0025104	HP:0001052	Nevus flammeus	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0025104	HP:0001052	Nevus flammeus	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0025104	HP:0001052	Nevus flammeus	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0025104	HP:0001052	Nevus flammeus	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	4
HP:0025104	HP:0001052	Nevus flammeus	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0025104	HP:0001052	Nevus flammeus	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0025104	HP:0001052	Nevus flammeus	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	9
HP:0025104	HP:0001052	Nevus flammeus	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0025104	HP:0001052	Nevus flammeus	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0025104	HP:0001052	Nevus flammeus	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0025104	HP:0001052	Nevus flammeus	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0025104	HP:0001052	Nevus flammeus	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent	123
HP:0025104	HP:0001052	Nevus flammeus	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0025104	HP:0001052	Nevus flammeus	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0025104	HP:0001052	Nevus flammeus	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0025104	HP:0001052	Nevus flammeus	1	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent	47
HP:0025104	HP:0001052	Nevus flammeus	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0025104	HP:0001052	Nevus flammeus	1	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040283 - Occasional	9
HP:0025104	HP:0025105	Nevus anemicus	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952
HP:0025104	HP:0025107	Cutis marmorata telangiectatica congenita	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0025104	HP:0001052	Nevus flammeus	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0025104	HP:0001052	Nevus flammeus	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040281 - Very frequent	162
HP:0025104	HP:0001052	Nevus flammeus	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers		60
HP:0025104	HP:0001052	Nevus flammeus	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0025104	HP:0001052	Nevus flammeus	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0025104	HP:0001052	Nevus flammeus	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0025104	HP:0001052	Nevus flammeus	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0025104	HP:0001052	Nevus flammeus	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0025104	HP:0001052	Nevus flammeus	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0025104	HP:0001052	Nevus flammeus	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0025104	HP:0001052	Nevus flammeus	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0025104	HP:0001052	Nevus flammeus	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0025104	HP:0001052	Nevus flammeus	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma	HP:0040281 - Very frequent	78
HP:0025104	HP:0001052	Nevus flammeus	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0025104	HP:0001052	Nevus flammeus	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0025104	HP:0001052	Nevus flammeus	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0025104	HP:0001052	Nevus flammeus	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0025104	HP:0001052	Nevus flammeus	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0025104	HP:0007616	Nevus flammeus nuchae	2	CL E G H
HP:0025104	HP:0010733	Naevus flammeus of the eyelid	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0025104	HP:0007413	Nevus flammeus of the forehead	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0025104	HP:0007413	Nevus flammeus of the forehead	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0025104	HP:0007413	Nevus flammeus of the forehead	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0025104	HP:0010733	Naevus flammeus of the eyelid	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0025104	HP:0010733	Naevus flammeus of the eyelid	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0025104	HP:0010733	Naevus flammeus of the eyelid	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0025104	HP:0010733	Naevus flammeus of the eyelid	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0025104	HP:0007413	Nevus flammeus of the forehead	2	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0025104	HP:0007413	Nevus flammeus of the forehead	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040281 - Very frequent	43
HP:0025104	HP:0007413	Nevus flammeus of the forehead	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0025104	HP:0010733	Naevus flammeus of the eyelid	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0025104	HP:0007413	Nevus flammeus of the forehead	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0025104	HP:0007413	Nevus flammeus of the forehead	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0025104	HP:0010733	Naevus flammeus of the eyelid	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98