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:0009125	HP:0009125	Lipodystrophy	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0009125	HP:0009125	Lipodystrophy	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0009125	HP:0009125	Lipodystrophy	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0009125	HP:0009125	Lipodystrophy	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0009125	HP:0009125	Lipodystrophy	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0009125	HP:0009125	Lipodystrophy	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	85
HP:0009125	HP:0009125	Lipodystrophy	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0009125	HP:0009125	Lipodystrophy	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040280 - Obligate	12
HP:0009125	HP:0009125	Lipodystrophy	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0009125	HP:0009125	Lipodystrophy	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104
HP:0009125	HP:0009125	Lipodystrophy	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0009125	HP:0009125	Lipodystrophy	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0009125	HP:0009125	Lipodystrophy	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0009125	HP:0009125	Lipodystrophy	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0009125	HP:0009125	Lipodystrophy	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0009125	HP:0009125	Lipodystrophy	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0009125	HP:0009125	Lipodystrophy	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0009125	HP:0009125	Lipodystrophy	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0009125	HP:0009125	Lipodystrophy	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	105
HP:0009125	HP:0009125	Lipodystrophy	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0009125	HP:0009125	Lipodystrophy	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy		105
HP:0009125	HP:0009125	Lipodystrophy	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0009125	HP:0009125	Lipodystrophy	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	11
HP:0009125	HP:0009125	Lipodystrophy	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.	11
HP:0009125	HP:0009125	Lipodystrophy	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0009125	HP:0009125	Lipodystrophy	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	48
HP:0009125	HP:0009125	Lipodystrophy	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0009125	HP:0009125	Lipodystrophy	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040280 - Obligate	8
HP:0009125	HP:0009125	Lipodystrophy	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.	8
HP:0009125	HP:0009125	Lipodystrophy	0	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome		7
HP:0009125	HP:0009125	Lipodystrophy	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0009125	HP:0009125	Lipodystrophy	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0009125	HP:0009125	Lipodystrophy	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0009125	HP:0009125	Lipodystrophy	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040283 - Occasional	62
HP:0009125	HP:0009125	Lipodystrophy	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0009125	HP:0009125	Lipodystrophy	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0009125	HP:0009125	Lipodystrophy	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0009125	HP:0009125	Lipodystrophy	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0009125	HP:0009125	Lipodystrophy	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0009125	HP:0009125	Lipodystrophy	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0009125	HP:0009125	Lipodystrophy	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0009125	HP:0009125	Lipodystrophy	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	107
HP:0009125	HP:0009125	Lipodystrophy	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0009125	HP:0009125	Lipodystrophy	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0009125	HP:0009125	Lipodystrophy	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome		1361
HP:0009125	HP:0009125	Lipodystrophy	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS		1361
HP:0009125	HP:0009125	Lipodystrophy	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	172
HP:0009125	HP:0009125	Lipodystrophy	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	68
HP:0009125	HP:0009125	Lipodystrophy	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0009125	HP:0009125	Lipodystrophy	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0009125	HP:0009125	Lipodystrophy	0	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome		493
HP:0009125	HP:0009125	Lipodystrophy	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent
HP:0009125	HP:0009125	Lipodystrophy	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis		43
HP:0009125	HP:0009125	Lipodystrophy	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0009125	HP:0009125	Lipodystrophy	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0009125	HP:0009125	Lipodystrophy	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0009125	HP:0009125	Lipodystrophy	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0009125	HP:0009125	Lipodystrophy	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0009125	HP:0009125	Lipodystrophy	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0009125	HP:0009125	Lipodystrophy	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome		3
HP:0009125	HP:0009125	Lipodystrophy	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040281 - Very frequent	196
HP:0009125	HP:0009125	Lipodystrophy	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0009125	HP:0009125	Lipodystrophy	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0009125	HP:0009125	Lipodystrophy	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate	7
HP:0009125	HP:0009125	Lipodystrophy	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.	7
HP:0009125	HP:0009125	Lipodystrophy	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED		3
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040282 - Frequent	645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type		645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.	645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0009125	HP:0009125	Lipodystrophy	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0009125	HP:0009125	Lipodystrophy	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0009125	HP:0009125	Lipodystrophy	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009125	HP:0009125	Lipodystrophy	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0009125	HP:0009125	Lipodystrophy	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0009125	HP:0009125	Lipodystrophy	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0009125	HP:0009125	Lipodystrophy	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0009125	HP:0009125	Lipodystrophy	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0009125	HP:0009125	Lipodystrophy	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0009125	HP:0009125	Lipodystrophy	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type		28
HP:0009125	HP:0009125	Lipodystrophy	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0009125	HP:0009125	Lipodystrophy	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent	43
HP:0009125	HP:0009125	Lipodystrophy	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0009125	HP:0009125	Lipodystrophy	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0009125	HP:0009125	Lipodystrophy	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0009125	HP:0009125	Lipodystrophy	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0009125	HP:0009125	Lipodystrophy	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0009125	HP:0009125	Lipodystrophy	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0009125	HP:0009125	Lipodystrophy	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0009125	HP:0009125	Lipodystrophy	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0009125	HP:0009125	Lipodystrophy	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0009125	HP:0009125	Lipodystrophy	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	42
HP:0009125	HP:0009125	Lipodystrophy	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0009125	HP:0009125	Lipodystrophy	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0009125	HP:0009125	Lipodystrophy	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0009125	HP:0009125	Lipodystrophy	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0009125	HP:0009125	Lipodystrophy	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0009125	HP:0009125	Lipodystrophy	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0009125	HP:0009125	Lipodystrophy	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0009125	HP:0009125	Lipodystrophy	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0009125	HP:0009125	Lipodystrophy	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0009125	HP:0009125	Lipodystrophy	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0009125	HP:0009125	Lipodystrophy	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0009125	HP:0009125	Lipodystrophy	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0009125	HP:0009125	Lipodystrophy	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0009125	HP:0009125	Lipodystrophy	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0009125	HP:0009125	Lipodystrophy	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0009125	HP:0009125	Lipodystrophy	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0009125	HP:0009125	Lipodystrophy	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0009125	HP:0009125	Lipodystrophy	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0009125	HP:0009125	Lipodystrophy	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0009125	HP:0009125	Lipodystrophy	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0009125	HP:0009125	Lipodystrophy	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0009125	HP:0009125	Lipodystrophy	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0009125	HP:0009125	Lipodystrophy	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0009125	HP:0009125	Lipodystrophy	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.	3
HP:0009125	HP:0009125	Lipodystrophy	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	1129
HP:0009125	HP:0009125	Lipodystrophy	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	508
HP:0009125	HP:0009125	Lipodystrophy	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0009125	HP:0009125	Lipodystrophy	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0009125	HP:0009125	Lipodystrophy	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0009125	HP:0009125	Lipodystrophy	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional	171
HP:0009125	HP:0009125	Lipodystrophy	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0009125	HP:0009125	Lipodystrophy	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0009125	HP:0009125	Lipodystrophy	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0009125	HP:0009125	Lipodystrophy	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0009125	HP:0009125	Lipodystrophy	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0009125	HP:0009125	Lipodystrophy	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0009125	HP:0009125	Lipodystrophy	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0009125	HP:0009125	Lipodystrophy	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0009125	HP:0009125	Lipodystrophy	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0009125	HP:0009125	Lipodystrophy	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0009125	HP:0009125	Lipodystrophy	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0009125	HP:0009125	Lipodystrophy	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0009125	HP:0009125	Lipodystrophy	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0009125	HP:0009125	Lipodystrophy	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0009125	HP:0100578	Lipoatrophy	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	254
HP:0009125	HP:0100578	Lipoatrophy	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent	72
HP:0009125	HP:0100578	Lipoatrophy	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	208
HP:0009125	HP:0100578	Lipoatrophy	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	307
HP:0009125	HP:0100578	Lipoatrophy	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	116
HP:0009125	HP:0100578	Lipoatrophy	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	95
HP:0009125	HP:0100578	Lipoatrophy	1	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	204
HP:0009125	HP:0100578	Lipoatrophy	1	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0009125	HP:0100578	Lipoatrophy	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0009125	HP:0009064	Generalized lipodystrophy	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent	105
HP:0009125	HP:0100578	Lipoatrophy	1	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0009125	HP:0009064	Generalized lipodystrophy	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.	11
HP:0009125	HP:0100578	Lipoatrophy	1	CLMP CL E G H	79827	24039	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent	7
HP:0009125	HP:0100578	Lipoatrophy	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent	749
HP:0009125	HP:0100578	Lipoatrophy	1	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	46
HP:0009125	HP:0100578	Lipoatrophy	1	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	104
HP:0009125	HP:0100578	Lipoatrophy	1	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	263
HP:0009125	HP:0100578	Lipoatrophy	1	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1496
HP:0009125	HP:0100578	Lipoatrophy	1	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	55
HP:0009125	HP:0100578	Lipoatrophy	1	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	358
HP:0009125	HP:0100578	Lipoatrophy	1	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	747
HP:0009125	HP:0009064	Generalized lipodystrophy	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0009125	HP:0100578	Lipoatrophy	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0009125	HP:0100578	Lipoatrophy	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0009125	HP:0100578	Lipoatrophy	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional	1361
HP:0009125	HP:0100578	Lipoatrophy	1	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	36
HP:0009125	HP:0100578	Lipoatrophy	1	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	184
HP:0009125	HP:0100578	Lipoatrophy	1	FLNA CL E G H	2316	3754	ORPHA:2301	Congenital short bowel syndrome	HP:0040282 - Frequent	493
HP:0009125	HP:0100578	Lipoatrophy	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0009125	HP:0100578	Lipoatrophy	1	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	35
HP:0009125	HP:0100578	Lipoatrophy	1	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	2
HP:0009125	HP:0100578	Lipoatrophy	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	28
HP:0009125	HP:0009064	Generalized lipodystrophy	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040280 - Obligate	3
HP:0009125	HP:0100578	Lipoatrophy	1	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	279
HP:0009125	HP:0100578	Lipoatrophy	1	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	286
HP:0009125	HP:0009064	Generalized lipodystrophy	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	645
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040281 - Very frequent	645
HP:0009125	HP:0100578	Lipoatrophy	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0009125	HP:0100578	Lipoatrophy	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040281 - Very frequent	11
HP:0009125	HP:0100578	Lipoatrophy	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0009125	HP:0009064	Generalized lipodystrophy	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009125	HP:0100578	Lipoatrophy	1	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1143
HP:0009125	HP:0100578	Lipoatrophy	1	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	452
HP:0009125	HP:0100578	Lipoatrophy	1	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1269
HP:0009125	HP:0100578	Lipoatrophy	1	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	217
HP:0009125	HP:0100578	Lipoatrophy	1	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	167
HP:0009125	HP:0100578	Lipoatrophy	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0009125	HP:0100578	Lipoatrophy	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional	162
HP:0009125	HP:0100578	Lipoatrophy	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0009125	HP:0100578	Lipoatrophy	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.	19
HP:0009125	HP:0100578	Lipoatrophy	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate	19
HP:0009125	HP:0100578	Lipoatrophy	1	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	57
HP:0009125	HP:0009059	Congenital generalized lipodystrophy	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0009125	HP:0100578	Lipoatrophy	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0009125	HP:0100578	Lipoatrophy	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0009125	HP:0100578	Lipoatrophy	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040280 - Obligate	42
HP:0009125	HP:0100578	Lipoatrophy	1	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0009125	HP:0100578	Lipoatrophy	1	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	148
HP:0009125	HP:0100578	Lipoatrophy	1	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	241
HP:0009125	HP:0100578	Lipoatrophy	1	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	59
HP:0009125	HP:0009064	Generalized lipodystrophy	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0009125	HP:0100578	Lipoatrophy	1	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	212
HP:0009125	HP:0100578	Lipoatrophy	1	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	363
HP:0009125	HP:0100578	Lipoatrophy	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0009125	HP:0100578	Lipoatrophy	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	33
HP:0009125	HP:0100578	Lipoatrophy	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	34
HP:0009125	HP:0100578	Lipoatrophy	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	60
HP:0009125	HP:0100578	Lipoatrophy	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0009125	HP:0100578	Lipoatrophy	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	55
HP:0009125	HP:0100578	Lipoatrophy	1	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1134
HP:0009125	HP:0100578	Lipoatrophy	1	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	304
HP:0009125	HP:0100578	Lipoatrophy	1	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	223
HP:0009125	HP:0100578	Lipoatrophy	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0009125	HP:0100578	Lipoatrophy	1	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0009125	HP:0100578	Lipoatrophy	1	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0009125	HP:0100578	Lipoatrophy	1	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	78
HP:0009125	HP:0100578	Lipoatrophy	1	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	136
HP:0009125	HP:0100578	Lipoatrophy	1	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	73
HP:0009125	HP:0100578	Lipoatrophy	1	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	180
HP:0009125	HP:0100578	Lipoatrophy	1	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0009125	HP:0100578	Lipoatrophy	1	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	230
HP:0009125	HP:0100578	Lipoatrophy	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare	56
HP:0009125	HP:0100578	Lipoatrophy	1	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	7128
HP:0009125	HP:0100578	Lipoatrophy	1	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	85
HP:0009125	HP:0100578	Lipoatrophy	1	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0009125	HP:0100578	Lipoatrophy	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310
HP:0009125	HP:0009064	Generalized lipodystrophy	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0009125	HP:0009064	Generalized lipodystrophy	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83