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:0000991	HP:0000991	Xanthomatosis	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent	191
HP:0000991	HP:0000991	Xanthomatosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	67
HP:0000991	HP:0000991	Xanthomatosis	0	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0000991	HP:0000991	Xanthomatosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	76
HP:0000991	HP:0000991	Xanthomatosis	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0000991	HP:0000991	Xanthomatosis	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent	40
HP:0000991	HP:0000991	Xanthomatosis	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0000991	HP:0000991	Xanthomatosis	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0000991	HP:0000991	Xanthomatosis	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0000991	HP:0000991	Xanthomatosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	356
HP:0000991	HP:0000991	Xanthomatosis	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0000991	HP:0000991	Xanthomatosis	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0000991	HP:0000991	Xanthomatosis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0000991	HP:0000991	Xanthomatosis	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0000991	HP:0000991	Xanthomatosis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0000991	HP:0000991	Xanthomatosis	0	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0000991	HP:0000991	Xanthomatosis	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	172
HP:0000991	HP:0000991	Xanthomatosis	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0000991	HP:0000991	Xanthomatosis	0	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0000991	HP:0000991	Xanthomatosis	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	196
HP:0000991	HP:0000991	Xanthomatosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	2157
HP:0000991	HP:0000991	Xanthomatosis	0	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0000991	HP:0000991	Xanthomatosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	73
HP:0000991	HP:0000991	Xanthomatosis	0	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive		73
HP:0000991	HP:0000991	Xanthomatosis	0	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0000991	HP:0000991	Xanthomatosis	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0000991	HP:0000991	Xanthomatosis	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0000991	HP:0000991	Xanthomatosis	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0000991	HP:0000991	Xanthomatosis	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0000991	HP:0000991	Xanthomatosis	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040282 - Frequent	645
HP:0000991	HP:0000991	Xanthomatosis	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0000991	HP:0000991	Xanthomatosis	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0000991	HP:0000991	Xanthomatosis	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0000991	HP:0000991	Xanthomatosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	178
HP:0000991	HP:0000991	Xanthomatosis	0	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0000991	HP:0000991	Xanthomatosis	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent	42
HP:0000991	HP:0000991	Xanthomatosis	0	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0000991	HP:0000991	Xanthomatosis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0000991	HP:0000991	Xanthomatosis	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0000991	HP:0000991	Xanthomatosis	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0000991	HP:0000991	Xanthomatosis	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0000991	HP:0000991	Xanthomatosis	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0000991	HP:0000991	Xanthomatosis	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0000991	HP:0031517	Verruciform xanthoma	1	CL E G H
HP:0000991	HP:0025530	Xanthomas of the palmar creases	1	CL E G H
HP:0000991	HP:0001114	Xanthelasma	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0000991	HP:0010874	Tendon xanthomatosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	67
HP:0000991	HP:0010874	Tendon xanthomatosis	1	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0000991	HP:0010874	Tendon xanthomatosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	76
HP:0000991	HP:0001114	Xanthelasma	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0000991	HP:0031290	Tuberous xanthoma	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0000991	HP:0001114	Xanthelasma	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0000991	HP:0010874	Tendon xanthomatosis	1	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0000991	HP:0001114	Xanthelasma	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0000991	HP:0010874	Tendon xanthomatosis	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0000991	HP:0001039	Atheroeruptive xanthoma	1	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0000991	HP:0010874	Tendon xanthomatosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	356
HP:0000991	HP:0001114	Xanthelasma	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2	.	356
HP:0000991	HP:0001013	Eruptive xanthomas	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0000991	HP:0010874	Tendon xanthomatosis	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent	39
HP:0000991	HP:0001114	Xanthelasma	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent	39
HP:0000991	HP:0031290	Tuberous xanthoma	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.	114
HP:0000991	HP:0001114	Xanthelasma	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0000991	HP:0010874	Tendon xanthomatosis	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0000991	HP:0010874	Tendon xanthomatosis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0000991	HP:0001114	Xanthelasma	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0000991	HP:0010874	Tendon xanthomatosis	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0000991	HP:0001114	Xanthelasma	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0000991	HP:0001114	Xanthelasma	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0000991	HP:0010874	Tendon xanthomatosis	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0000991	HP:0010874	Tendon xanthomatosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	2157
HP:0000991	HP:0010874	Tendon xanthomatosis	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0000991	HP:0001114	Xanthelasma	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0000991	HP:0010874	Tendon xanthomatosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	73
HP:0000991	HP:0010874	Tendon xanthomatosis	1	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0000991	HP:0001013	Eruptive xanthomas	1	LIPC CL E G H	3990	6619	OMIM:614025	HEPATIC LIPASE DEFICIENCY		35
HP:0000991	HP:0001013	Eruptive xanthomas	1	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040281 - Very frequent	35
HP:0000991	HP:0031290	Tuberous xanthoma	1	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0000991	HP:0001114	Xanthelasma	1	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3	HP:0040283 - Occasional	106
HP:0000991	HP:0001013	Eruptive xanthomas	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0000991	HP:0010874	Tendon xanthomatosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional	178
HP:0000991	HP:0010874	Tendon xanthomatosis	1	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0000991	HP:0001114	Xanthelasma	1	PCSK9 CL E G H	255738	20001	OMIM:603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3		178
HP:0000991	HP:0001114	Xanthelasma	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0000991	HP:0010874	Tendon xanthomatosis	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0000991	HP:0001114	Xanthelasma	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0000991	HP:0001114	Xanthelasma	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0000991	HP:0001114	Xanthelasma	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0000991	HP:0001114	Xanthelasma	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0000991	HP:0010874	Tendon xanthomatosis	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62
HP:0000991	HP:0001114	Xanthelasma	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.	62