Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0009125	HP:0009125	Lipodystrophy	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	213	325	603100
HP:0009125	HP:0009125	Lipodystrophy	0	AKT2 CL E G H	208	79085				ORPHA	1	115	392	164731
HP:0009125	HP:0009125	Lipodystrophy	0	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	484	18481	611716
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	484	18481	611716
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	484	18481	611716
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V1A CL E G H	523	357074				ORPHA	1	123	851	607027
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	172	857	108746
HP:0009125	HP:0009125	Lipodystrophy	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	366	17978	615291
HP:0009125	HP:0009125	Lipodystrophy	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	286	930	604327
HP:0009125	HP:0009125	Lipodystrophy	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	435	15832	606158
HP:0009125	HP:0009125	Lipodystrophy	0	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	115	1527	601047
HP:0009125	HP:0009125	Lipodystrophy	0	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	115	1527	601047
HP:0009125	HP:0009125	Lipodystrophy	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0009125	HP:0009125	Lipodystrophy	0	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0009125	HP:0009125	Lipodystrophy	0	CIDEC CL E G H	63924	435651				ORPHA	1	81	24229	612120
HP:0009125	HP:0009125	Lipodystrophy	0	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	81	24229	612120
HP:0009125	HP:0009125	Lipodystrophy	0	FGFR1 CL E G H	2260	2396				ORPHA	1	688	3688	136350
HP:0009125	HP:0009125	Lipodystrophy	0	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	713	5465	147370
HP:0009125	HP:0009125	Lipodystrophy	0	KRAS CL E G H	3845	2396				ORPHA	1	440	6407	190070
HP:0009125	HP:0009125	Lipodystrophy	0	LIPE CL E G H	3991	435660				ORPHA	1	82	6621	151750
HP:0009125	HP:0009125	Lipodystrophy	0	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	1	82	6621	151750
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	1	1622	6636	150330
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	1622	6636	150330
HP:0009125	HP:0009125	Lipodystrophy	0	OTULIN CL E G H	90268	617099	Autoinflammation, panniculitis, and dermatosis syndrome	617099	C4310614	OMIM	1	408	25118	615712
HP:0009125	HP:0009125	Lipodystrophy	0	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile			ORPHA	1	368	8979	171833
HP:0009125	HP:0009125	Lipodystrophy	0	PIK3R1 CL E G H	5295	269880	SHORT syndrome	269880	C0878684	OMIM	1	368	8979	171833
HP:0009125	HP:0009125	Lipodystrophy	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0009125	HP:0009125	Lipodystrophy	0	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	139	9236	601487
HP:0009125	HP:0009125	Lipodystrophy	0	PSMB4 CL E G H	5692	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	113	9541	602177
HP:0009125	HP:0009125	Lipodystrophy	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0009125	HP:0009125	Lipodystrophy	0	PSMB9 CL E G H	5698	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	16	9546	177045
HP:0009125	HP:0009125	Lipodystrophy	0	SPRTN CL E G H	83932	616200	Ruijs-Aalfs syndrome	616200	C4015461	OMIM	1	55	25356	616086
HP:0009125	HP:0009125	Lipodystrophy	0	USP8 CL E G H	9101	96253				ORPHA	1	134	12631	603158
HP:0009125	HP:0009064	Generalized lipodystrophy	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	213	325	603100
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	213	325	603100
HP:0009125	HP:0100578	Lipoatrophy	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	213	325	603100
HP:0009125	HP:0009064	Generalized lipodystrophy	1	AKT2 CL E G H	208	79085				ORPHA	1	115	392	164731
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	AKT2 CL E G H	208	79085				ORPHA	1	115	392	164731
HP:0009125	HP:0100578	Lipoatrophy	1	AKT2 CL E G H	208	79085				ORPHA	1	115	392	164731
HP:0009125	HP:0009064	Generalized lipodystrophy	1	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0009125	HP:0100578	Lipoatrophy	1	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0009125	HP:0009064	Generalized lipodystrophy	1	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	484	18481	611716
HP:0009125	HP:0009064	Generalized lipodystrophy	1	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	484	18481	611716
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	484	18481	611716
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	484	18481	611716
HP:0009125	HP:0100578	Lipoatrophy	1	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	484	18481	611716
HP:0009125	HP:0100578	Lipoatrophy	1	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	484	18481	611716
HP:0009125	HP:0009064	Generalized lipodystrophy	1	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	484	18481	611716
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	484	18481	611716
HP:0009125	HP:0100578	Lipoatrophy	1	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	484	18481	611716
HP:0009125	HP:0009064	Generalized lipodystrophy	1	ATP6V1A CL E G H	523	357074				ORPHA	1	123	851	607027
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	ATP6V1A CL E G H	523	357074				ORPHA	1	123	851	607027
HP:0009125	HP:0100578	Lipoatrophy	1	ATP6V1A CL E G H	523	357074				ORPHA	1	123	851	607027
HP:0009125	HP:0009064	Generalized lipodystrophy	1	ATP6V1E1 CL E G H	529	357074				ORPHA	1	172	857	108746
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	ATP6V1E1 CL E G H	529	357074				ORPHA	1	172	857	108746
HP:0009125	HP:0100578	Lipoatrophy	1	ATP6V1E1 CL E G H	529	357074				ORPHA	1	172	857	108746
HP:0009125	HP:0009064	Generalized lipodystrophy	1	B3GALT6 CL E G H	126792	75496				ORPHA	1	366	17978	615291
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	B3GALT6 CL E G H	126792	75496				ORPHA	1	366	17978	615291
HP:0009125	HP:0100578	Lipoatrophy	1	B3GALT6 CL E G H	126792	75496				ORPHA	1	366	17978	615291
HP:0009125	HP:0009064	Generalized lipodystrophy	1	B4GALT7 CL E G H	11285	75496				ORPHA	1	286	930	604327
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	B4GALT7 CL E G H	11285	75496				ORPHA	1	286	930	604327
HP:0009125	HP:0100578	Lipoatrophy	1	B4GALT7 CL E G H	11285	75496				ORPHA	1	286	930	604327
HP:0009125	HP:0009064	Generalized lipodystrophy	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	435	15832	606158
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	435	15832	606158
HP:0009125	HP:0100578	Lipoatrophy	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	435	15832	606158
HP:0009125	HP:0009064	Generalized lipodystrophy	1	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	115	1527	601047
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	115	1527	601047
HP:0009125	HP:0100578	Lipoatrophy	1	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	115	1527	601047
HP:0009125	HP:0009064	Generalized lipodystrophy	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	115	1527	601047
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	115	1527	601047
HP:0009125	HP:0100578	Lipoatrophy	1	CAV1 CL E G H	857	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	606721	C1847582	OMIM	1	115	1527	601047
HP:0009125	HP:0009064	Generalized lipodystrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0009125	HP:0100578	Lipoatrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0009125	HP:0009064	Generalized lipodystrophy	1	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0009125	HP:0100578	Lipoatrophy	1	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0009125	HP:0009064	Generalized lipodystrophy	1	CIDEC CL E G H	63924	435651				ORPHA	1	81	24229	612120
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	CIDEC CL E G H	63924	435651				ORPHA	1	81	24229	612120
HP:0009125	HP:0100578	Lipoatrophy	1	CIDEC CL E G H	63924	435651				ORPHA	1	81	24229	612120
HP:0009125	HP:0009064	Generalized lipodystrophy	1	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	81	24229	612120
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	81	24229	612120
HP:0009125	HP:0100578	Lipoatrophy	1	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	81	24229	612120
HP:0009125	HP:0009064	Generalized lipodystrophy	1	FGFR1 CL E G H	2260	2396				ORPHA	1	688	3688	136350
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	FGFR1 CL E G H	2260	2396				ORPHA	1	688	3688	136350
HP:0009125	HP:0100578	Lipoatrophy	1	FGFR1 CL E G H	2260	2396				ORPHA	1	688	3688	136350
HP:0009125	HP:0009064	Generalized lipodystrophy	1	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	713	5465	147370
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	713	5465	147370
HP:0009125	HP:0100578	Lipoatrophy	1	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	713	5465	147370
HP:0009125	HP:0009064	Generalized lipodystrophy	1	KRAS CL E G H	3845	2396				ORPHA	1	440	6407	190070
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	KRAS CL E G H	3845	2396				ORPHA	1	440	6407	190070
HP:0009125	HP:0100578	Lipoatrophy	1	KRAS CL E G H	3845	2396				ORPHA	1	440	6407	190070
HP:0009125	HP:0009064	Generalized lipodystrophy	1	LIPE CL E G H	3991	435660				ORPHA	1	82	6621	151750
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	LIPE CL E G H	3991	435660				ORPHA	1	82	6621	151750
HP:0009125	HP:0100578	Lipoatrophy	1	LIPE CL E G H	3991	435660				ORPHA	1	82	6621	151750
HP:0009125	HP:0009064	Generalized lipodystrophy	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	1	82	6621	151750
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	1	82	6621	151750
HP:0009125	HP:0100578	Lipoatrophy	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	1	82	6621	151750
HP:0009125	HP:0009064	Generalized lipodystrophy	1	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	1	1622	6636	150330
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	1	1622	6636	150330
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	1	1622	6636	150330
HP:0009125	HP:0009064	Generalized lipodystrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0009125	HP:0009064	Generalized lipodystrophy	1	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	1622	6636	150330
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	1622	6636	150330
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	248370	Mandibuloacral dysostosis	248370	C0432291	OMIM	1	1622	6636	150330
HP:0009125	HP:0009064	Generalized lipodystrophy	1	OTULIN CL E G H	90268	617099	Autoinflammation, panniculitis, and dermatosis syndrome	617099	C4310614	OMIM	1	408	25118	615712
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	OTULIN CL E G H	90268	617099	Autoinflammation, panniculitis, and dermatosis syndrome	617099	C4310614	OMIM	1	408	25118	615712
HP:0009125	HP:0100578	Lipoatrophy	1	OTULIN CL E G H	90268	617099	Autoinflammation, panniculitis, and dermatosis syndrome	617099	C4310614	OMIM	1	408	25118	615712
HP:0009125	HP:0009064	Generalized lipodystrophy	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile			ORPHA	1	368	8979	171833
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile			ORPHA	1	368	8979	171833
HP:0009125	HP:0100578	Lipoatrophy	1	PIK3R1 CL E G H	5295	3163	Lactic acidosis congenital infantile			ORPHA	1	368	8979	171833
HP:0009125	HP:0009064	Generalized lipodystrophy	1	PIK3R1 CL E G H	5295	269880	SHORT syndrome	269880	C0878684	OMIM	1	368	8979	171833
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	PIK3R1 CL E G H	5295	269880	SHORT syndrome	269880	C0878684	OMIM	1	368	8979	171833
HP:0009125	HP:0100578	Lipoatrophy	1	PIK3R1 CL E G H	5295	269880	SHORT syndrome	269880	C0878684	OMIM	1	368	8979	171833
HP:0009125	HP:0009064	Generalized lipodystrophy	1	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0009125	HP:0100578	Lipoatrophy	1	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0009125	HP:0009064	Generalized lipodystrophy	1	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	139	9236	601487
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	139	9236	601487
HP:0009125	HP:0100578	Lipoatrophy	1	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	139	9236	601487
HP:0009125	HP:0009064	Generalized lipodystrophy	1	PSMB4 CL E G H	5692	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	113	9541	602177
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	PSMB4 CL E G H	5692	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	113	9541	602177
HP:0009125	HP:0100578	Lipoatrophy	1	PSMB4 CL E G H	5692	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	113	9541	602177
HP:0009125	HP:0009064	Generalized lipodystrophy	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0009125	HP:0100578	Lipoatrophy	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0009125	HP:0009064	Generalized lipodystrophy	1	PSMB9 CL E G H	5698	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	16	9546	177045
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	PSMB9 CL E G H	5698	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	16	9546	177045
HP:0009125	HP:0100578	Lipoatrophy	1	PSMB9 CL E G H	5698	617591	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3	617591	CN252341	OMIM	1	16	9546	177045
HP:0009125	HP:0009064	Generalized lipodystrophy	1	SPRTN CL E G H	83932	616200	Ruijs-Aalfs syndrome	616200	C4015461	OMIM	1	55	25356	616086
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	SPRTN CL E G H	83932	616200	Ruijs-Aalfs syndrome	616200	C4015461	OMIM	1	55	25356	616086
HP:0009125	HP:0100578	Lipoatrophy	1	SPRTN CL E G H	83932	616200	Ruijs-Aalfs syndrome	616200	C4015461	OMIM	1	55	25356	616086
HP:0009125	HP:0009064	Generalized lipodystrophy	1	USP8 CL E G H	9101	96253				ORPHA	1	134	12631	603158
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	USP8 CL E G H	9101	96253				ORPHA	1	134	12631	603158
HP:0009125	HP:0100578	Lipoatrophy	1	USP8 CL E G H	9101	96253				ORPHA	1	134	12631	603158
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009125	HP:0009125	Lipodystrophy	0	DDOST CL E G H	1650	300536				ORPHA	0	187	2728	602202
HP:0009125	HP:0009125	Lipodystrophy	0	EMD CL E G H	2010	98863				ORPHA	0	618	3331	300384
HP:0009125	HP:0009125	Lipodystrophy	0	FBN1 CL E G H	2200	184900	Stiff skin syndrome	184900	C1861456	OMIM	0	5970	3603	134797
HP:0009125	HP:0009125	Lipodystrophy	0	FHL1 CL E G H	2273	98863				ORPHA	0	517	3702	300163
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	264				ORPHA	0	1622	6636	150330
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	98855				ORPHA	0	1622	6636	150330
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	98853				ORPHA	0	1622	6636	150330
HP:0009125	HP:0009125	Lipodystrophy	0	SLC29A3 CL E G H	55315	168569				ORPHA	0	345	23096	612373
HP:0009125	HP:0009125	Lipodystrophy	0	SYNE1 CL E G H	23345	98853				ORPHA	0	4598	17089	608441
HP:0009125	HP:0009125	Lipodystrophy	0	SYNE2 CL E G H	23224	98853				ORPHA	0	2497	17084	608442
HP:0009125	HP:0009125	Lipodystrophy	0	TMEM43 CL E G H	79188	98853				ORPHA	0	740	28472	612048
HP:0009125	HP:0009064	Generalized lipodystrophy	1	DDOST CL E G H	1650	300536				ORPHA	0	187	2728	602202
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	DDOST CL E G H	1650	300536				ORPHA	0	187	2728	602202
HP:0009125	HP:0100578	Lipoatrophy	1	DDOST CL E G H	1650	300536				ORPHA	0	187	2728	602202
HP:0009125	HP:0009064	Generalized lipodystrophy	1	EMD CL E G H	2010	98863				ORPHA	0	618	3331	300384
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	EMD CL E G H	2010	98863				ORPHA	0	618	3331	300384
HP:0009125	HP:0100578	Lipoatrophy	1	EMD CL E G H	2010	98863				ORPHA	0	618	3331	300384
HP:0009125	HP:0009064	Generalized lipodystrophy	1	FBN1 CL E G H	2200	184900	Stiff skin syndrome	184900	C1861456	OMIM	0	5970	3603	134797
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	FBN1 CL E G H	2200	184900	Stiff skin syndrome	184900	C1861456	OMIM	0	5970	3603	134797
HP:0009125	HP:0100578	Lipoatrophy	1	FBN1 CL E G H	2200	184900	Stiff skin syndrome	184900	C1861456	OMIM	0	5970	3603	134797
HP:0009125	HP:0009064	Generalized lipodystrophy	1	FHL1 CL E G H	2273	98863				ORPHA	0	517	3702	300163
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	FHL1 CL E G H	2273	98863				ORPHA	0	517	3702	300163
HP:0009125	HP:0100578	Lipoatrophy	1	FHL1 CL E G H	2273	98863				ORPHA	0	517	3702	300163
HP:0009125	HP:0009064	Generalized lipodystrophy	1	LMNA CL E G H	4000	98853				ORPHA	0	1622	6636	150330
HP:0009125	HP:0009064	Generalized lipodystrophy	1	LMNA CL E G H	4000	264				ORPHA	0	1622	6636	150330
HP:0009125	HP:0009064	Generalized lipodystrophy	1	LMNA CL E G H	4000	98855				ORPHA	0	1622	6636	150330
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	LMNA CL E G H	4000	98853				ORPHA	0	1622	6636	150330
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	LMNA CL E G H	4000	264				ORPHA	0	1622	6636	150330
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	LMNA CL E G H	4000	98855				ORPHA	0	1622	6636	150330
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	264				ORPHA	0	1622	6636	150330
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	98855				ORPHA	0	1622	6636	150330
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	98853				ORPHA	0	1622	6636	150330
HP:0009125	HP:0009064	Generalized lipodystrophy	1	SLC29A3 CL E G H	55315	168569				ORPHA	0	345	23096	612373
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	SLC29A3 CL E G H	55315	168569				ORPHA	0	345	23096	612373
HP:0009125	HP:0100578	Lipoatrophy	1	SLC29A3 CL E G H	55315	168569				ORPHA	0	345	23096	612373
HP:0009125	HP:0009064	Generalized lipodystrophy	1	SYNE1 CL E G H	23345	98853				ORPHA	0	4598	17089	608441
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	SYNE1 CL E G H	23345	98853				ORPHA	0	4598	17089	608441
HP:0009125	HP:0100578	Lipoatrophy	1	SYNE1 CL E G H	23345	98853				ORPHA	0	4598	17089	608441
HP:0009125	HP:0009064	Generalized lipodystrophy	1	SYNE2 CL E G H	23224	98853				ORPHA	0	2497	17084	608442
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	SYNE2 CL E G H	23224	98853				ORPHA	0	2497	17084	608442
HP:0009125	HP:0100578	Lipoatrophy	1	SYNE2 CL E G H	23224	98853				ORPHA	0	2497	17084	608442
HP:0009125	HP:0009064	Generalized lipodystrophy	1	TMEM43 CL E G H	79188	98853				ORPHA	0	740	28472	612048
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	TMEM43 CL E G H	79188	98853				ORPHA	0	740	28472	612048
HP:0009125	HP:0100578	Lipoatrophy	1	TMEM43 CL E G H	79188	98853				ORPHA	0	740	28472	612048