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:0200013	HP:0200013	Neoplasm of fatty tissue	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III		6
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome		332
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis		68
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis		203
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi		162
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0200013	HP:0200013	Neoplasm of fatty tissue	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0200013	HP:0012031	Lipomatous tumor	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0200013	HP:0012031	Lipomatous tumor	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0200013	HP:0012031	Lipomatous tumor	1	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0200013	HP:0012031	Lipomatous tumor	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0200013	HP:0012031	Lipomatous tumor	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0200013	HP:0012031	Lipomatous tumor	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0200013	HP:0012031	Lipomatous tumor	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0200013	HP:0012031	Lipomatous tumor	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0200013	HP:0012031	Lipomatous tumor	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III		6
HP:0200013	HP:0012031	Lipomatous tumor	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0200013	HP:0012031	Lipomatous tumor	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0200013	HP:0012031	Lipomatous tumor	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0200013	HP:0012031	Lipomatous tumor	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0200013	HP:0012031	Lipomatous tumor	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0200013	HP:0012031	Lipomatous tumor	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0200013	HP:0012031	Lipomatous tumor	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0200013	HP:0012031	Lipomatous tumor	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0200013	HP:0012031	Lipomatous tumor	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0200013	HP:0012031	Lipomatous tumor	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0200013	HP:0012031	Lipomatous tumor	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0200013	HP:0012031	Lipomatous tumor	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0200013	HP:0012031	Lipomatous tumor	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0200013	HP:0012031	Lipomatous tumor	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0200013	HP:0012031	Lipomatous tumor	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0200013	HP:0012031	Lipomatous tumor	1	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome		332
HP:0200013	HP:0012031	Lipomatous tumor	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0200013	HP:0012031	Lipomatous tumor	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0200013	HP:0012031	Lipomatous tumor	1	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0200013	HP:0012031	Lipomatous tumor	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0200013	HP:0012031	Lipomatous tumor	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0200013	HP:0012031	Lipomatous tumor	1	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis		68
HP:0200013	HP:0012031	Lipomatous tumor	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0200013	HP:0012031	Lipomatous tumor	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0200013	HP:0012031	Lipomatous tumor	1	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis		203
HP:0200013	HP:0012031	Lipomatous tumor	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0200013	HP:0012031	Lipomatous tumor	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0200013	HP:0012031	Lipomatous tumor	1	ND5 CL E G H	4540	7461	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi		162
HP:0200013	HP:0012031	Lipomatous tumor	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0200013	HP:0012031	Lipomatous tumor	1	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0200013	HP:0012031	Lipomatous tumor	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0200013	HP:0012031	Lipomatous tumor	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0200013	HP:0012031	Lipomatous tumor	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0200013	HP:0012031	Lipomatous tumor	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0200013	HP:0012031	Lipomatous tumor	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0200013	HP:0012031	Lipomatous tumor	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0200013	HP:0012031	Lipomatous tumor	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0200013	HP:0012031	Lipomatous tumor	1	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0200013	HP:0012031	Lipomatous tumor	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0200013	HP:0012031	Lipomatous tumor	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0200013	HP:0012031	Lipomatous tumor	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0200013	HP:0012031	Lipomatous tumor	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0200013	HP:0012031	Lipomatous tumor	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0200013	HP:0012031	Lipomatous tumor	1	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome		136
HP:0200013	HP:0012031	Lipomatous tumor	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0200013	HP:0012031	Lipomatous tumor	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0200013	HP:0012031	Lipomatous tumor	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0200013	HP:0012031	Lipomatous tumor	1	TRNF CL E G H	4558	7481	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	TRNH CL E G H	4564	7487	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	TRNK CL E G H	4566	7489	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0200013	HP:0012031	Lipomatous tumor	1	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	TRNP CL E G H	4571	7494	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF
HP:0200013	HP:0012031	Lipomatous tumor	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0200013	HP:0012031	Lipomatous tumor	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0200013	HP:0012031	Lipomatous tumor	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0200013	HP:0012031	Lipomatous tumor	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0200013	HP:0012031	Lipomatous tumor	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0200013	HP:0012031	Lipomatous tumor	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0200013	HP:0012034	Liposarcoma	2	CL E G H
HP:0200013	HP:0001012	Multiple lipomas	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0200013	HP:0012032	Lipoma	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0200013	HP:0001012	Multiple lipomas	2	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0200013	HP:0012032	Lipoma	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0200013	HP:0001012	Multiple lipomas	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0200013	HP:0012032	Lipoma	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0200013	HP:0001012	Multiple lipomas	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0200013	HP:0001012	Multiple lipomas	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0200013	HP:0012032	Lipoma	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0200013	HP:0001012	Multiple lipomas	2	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0200013	HP:0001012	Multiple lipomas	2	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0200013	HP:0001012	Multiple lipomas	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0200013	HP:0012032	Lipoma	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0200013	HP:0012032	Lipoma	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040282 - Frequent	3179
HP:0200013	HP:0001012	Multiple lipomas	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0200013	HP:0012032	Lipoma	2	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0200013	HP:0001012	Multiple lipomas	2	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0200013	HP:0012032	Lipoma	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040284 - Very rare	169
HP:0200013	HP:0012032	Lipoma	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040284 - Very rare	169
HP:0200013	HP:0001012	Multiple lipomas	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0200013	HP:0001012	Multiple lipomas	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0200013	HP:0001012	Multiple lipomas	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0200013	HP:0001012	Multiple lipomas	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0200013	HP:0001012	Multiple lipomas	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0200013	HP:0001012	Multiple lipomas	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0200013	HP:0001012	Multiple lipomas	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	172
HP:0200013	HP:0012032	Lipoma	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0200013	HP:0001012	Multiple lipomas	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0200013	HP:0001012	Multiple lipomas	2	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040282 - Frequent	332
HP:0200013	HP:0001012	Multiple lipomas	2	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0200013	HP:0001012	Multiple lipomas	2	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0200013	HP:0012032	Lipoma	2	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0200013	HP:0001012	Multiple lipomas	2	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.	16
HP:0200013	HP:0012032	Lipoma	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0200013	HP:0001012	Multiple lipomas	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	196
HP:0200013	HP:0001012	Multiple lipomas	2	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis	HP:0040283 - Occasional	68
HP:0200013	HP:0001012	Multiple lipomas	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0200013	HP:0001012	Multiple lipomas	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0200013	HP:0001012	Multiple lipomas	2	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040281 - Very frequent	203
HP:0200013	HP:0012032	Lipoma	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0200013	HP:0001012	Multiple lipomas	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0200013	HP:0001012	Multiple lipomas	2	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0012032	Lipoma	2	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	HP:0040282 - Frequent	162
HP:0200013	HP:0012032	Lipoma	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0200013	HP:0001012	Multiple lipomas	2	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0200013	HP:0001012	Multiple lipomas	2	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0200013	HP:0012032	Lipoma	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent	948
HP:0200013	HP:0012032	Lipoma	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0200013	HP:0001012	Multiple lipomas	2	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0200013	HP:0001012	Multiple lipomas	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0200013	HP:0012032	Lipoma	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0200013	HP:0001012	Multiple lipomas	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0200013	HP:0001012	Multiple lipomas	2	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0012032	Lipoma	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0200013	HP:0012032	Lipoma	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0200013	HP:0012032	Lipoma	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0200013	HP:0012032	Lipoma	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0200013	HP:0012032	Lipoma	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0200013	HP:0012032	Lipoma	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0200013	HP:0001012	Multiple lipomas	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0200013	HP:0001012	Multiple lipomas	2	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0200013	HP:0012032	Lipoma	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional	21
HP:0200013	HP:0001012	Multiple lipomas	2	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0200013	HP:0012032	Lipoma	2	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0200013	HP:0001012	Multiple lipomas	2	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0001012	Multiple lipomas	2	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0001012	Multiple lipomas	2	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0001012	Multiple lipomas	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0200013	HP:0001012	Multiple lipomas	2	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0001012	Multiple lipomas	2	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0001012	Multiple lipomas	2	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0001012	Multiple lipomas	2	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0001012	Multiple lipomas	2	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0200013	HP:0012032	Lipoma	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0200013	HP:0001012	Multiple lipomas	2	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0200013	HP:0012032	Lipoma	2	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0200013	HP:0012032	Lipoma	2	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0200013	HP:0012032	Lipoma	2	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0200013	HP:0001012	Multiple lipomas	2	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0200013	HP:0012032	Lipoma	2	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0200013	HP:0001012	Multiple lipomas	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0200013	HP:0034009	Pelvic lipomatosis	3	CL E G H
HP:0200013	HP:0030815	Lipoma of the tongue	3	CL E G H
HP:0200013	HP:0025476	Testicular lipomatosis	3	CL E G H
HP:0200013	HP:0012268	Myxoid liposarcoma	3	CL E G H
HP:0200013	HP:0040164	Lipomas of eyelids	3	CL E G H
HP:0200013	HP:0006773	Cutaneous angiolipomas	3	CL E G H
HP:0200013	HP:0001031	Subcutaneous lipoma	3	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0200013	HP:0100251	Multiple central nervous system lipomas	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0200013	HP:0007541	Frontal cutaneous lipoma	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0200013	HP:0100251	Multiple central nervous system lipomas	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0200013	HP:0100251	Multiple central nervous system lipomas	3	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0200013	HP:0001031	Subcutaneous lipoma	3	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare	385
HP:0200013	HP:0001031	Subcutaneous lipoma	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0200013	HP:0001031	Subcutaneous lipoma	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0200013	HP:0100251	Multiple central nervous system lipomas	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0200013	HP:0001031	Subcutaneous lipoma	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0200013	HP:0001031	Subcutaneous lipoma	3	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0200013	HP:0001031	Subcutaneous lipoma	3	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0200013	HP:0001031	Subcutaneous lipoma	3	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040284 - Very rare	948
HP:0200013	HP:0001031	Subcutaneous lipoma	3	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0200013	HP:0012033	Sacral lipoma	3	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0200013	HP:0012033	Sacral lipoma	3	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0200013	HP:0100251	Multiple central nervous system lipomas	3	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0200013	HP:0007596	Painful subcutaneous lipomas	4	CL E G H
HP:0200013	HP:0006866	Midline central nervous system lipomas	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0200013	HP:0006866	Midline central nervous system lipomas	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0200013	HP:0006866	Midline central nervous system lipomas	4	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0200013	HP:0006866	Midline central nervous system lipomas	4	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0200013	HP:0006931	Pericallosal lipoma	5	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional	5
HP:0200013	HP:0006931	Pericallosal lipoma	5	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0200013	HP:0006931	Pericallosal lipoma	5	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0200013	HP:0034014	Tubulonodular pericallosal lipoma	6	CL E G H
HP:0200013	HP:0034013	Curvilinear pericallosal lipoma	6	CL E G H