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:0003712	HP:0003712	Skeletal muscle hypertrophy	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0000158	Macroglossia	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0000158	Macroglossia	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0000158	Macroglossia	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0000158	Macroglossia	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0000158	Macroglossia	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0000158	Macroglossia	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0000158	Macroglossia	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0000158	Macroglossia	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0000158	Macroglossia	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0000158	Macroglossia	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0000158	Macroglossia	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0000158	Macroglossia	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0000158	Macroglossia	1	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0000158	Macroglossia	1	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0000158	Macroglossia	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0000158	Macroglossia	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0000158	Macroglossia	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0000158	Macroglossia	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0000158	Macroglossia	1	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0000158	Macroglossia	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0000158	Macroglossia	1	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0000158	Macroglossia	1	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0000158	Macroglossia	1	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0000158	Macroglossia	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0030284	Triangular tongue	2	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0003733	Thigh hypertrophy	2	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0100875	Hemimacroglossia	2	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0003712	HP:0030284	Triangular tongue	2	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0003733	Thigh hypertrophy	2	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0100875	Hemimacroglossia	2	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0003712	HP:0030284	Triangular tongue	2	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0003733	Thigh hypertrophy	2	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0100875	Hemimacroglossia	2	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0003712	HP:0030284	Triangular tongue	2	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0003733	Thigh hypertrophy	2	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0100875	Hemimacroglossia	2	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	390	1529	601253
HP:0003712	HP:0030284	Triangular tongue	2	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0003733	Thigh hypertrophy	2	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0100875	Hemimacroglossia	2	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0003712	HP:0030284	Triangular tongue	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0003733	Thigh hypertrophy	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0100875	Hemimacroglossia	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0003712	HP:0030284	Triangular tongue	2	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0003733	Thigh hypertrophy	2	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0100875	Hemimacroglossia	2	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	783	3622	607440
HP:0003712	HP:0030284	Triangular tongue	2	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0003733	Thigh hypertrophy	2	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0100875	Hemimacroglossia	2	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0003712	HP:0030284	Triangular tongue	2	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0003733	Thigh hypertrophy	2	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0100875	Hemimacroglossia	2	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0003712	HP:0003733	Thigh hypertrophy	2	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0030284	Triangular tongue	2	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0100875	Hemimacroglossia	2	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0003712	HP:0030284	Triangular tongue	2	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0003733	Thigh hypertrophy	2	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0100875	Hemimacroglossia	2	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0003712	HP:0030284	Triangular tongue	2	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0003733	Thigh hypertrophy	2	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0100875	Hemimacroglossia	2	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0003712	HP:0030284	Triangular tongue	2	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0003733	Thigh hypertrophy	2	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0100875	Hemimacroglossia	2	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	MPZ CL E G H	4359	101082				ORPHA	1	557	7225	159440
HP:0003712	HP:0030284	Triangular tongue	2	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0003733	Thigh hypertrophy	2	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0100875	Hemimacroglossia	2	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	MSTN CL E G H	2660	614160	Muscle hypertrophy	614160	C0236033	OMIM	1	88	4223	601788
HP:0003712	HP:0003733	Thigh hypertrophy	2	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0030284	Triangular tongue	2	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0100875	Hemimacroglossia	2	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	101	9076	170290
HP:0003712	HP:0030284	Triangular tongue	2	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0003733	Thigh hypertrophy	2	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0100875	Hemimacroglossia	2	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	943	19139	606822
HP:0003712	HP:0030284	Triangular tongue	2	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0003733	Thigh hypertrophy	2	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0100875	Hemimacroglossia	2	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	766	19743	607439
HP:0003712	HP:0003733	Thigh hypertrophy	2	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0030284	Triangular tongue	2	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0100875	Hemimacroglossia	2	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0003712	HP:0030284	Triangular tongue	2	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0003733	Thigh hypertrophy	2	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0100875	Hemimacroglossia	2	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	PRPS1 CL E G H	5631	99014				ORPHA	1	360	9462	311850
HP:0003712	HP:0030284	Triangular tongue	2	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0003733	Thigh hypertrophy	2	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0100875	Hemimacroglossia	2	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	1	1391	10591	603967
HP:0003712	HP:0030284	Triangular tongue	2	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0003733	Thigh hypertrophy	2	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0100875	Hemimacroglossia	2	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	608390	Potassium aggravated myotonia	608390	C0752355	OMIM	1	1391	10591	603967
HP:0003712	HP:0030284	Triangular tongue	2	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0003733	Thigh hypertrophy	2	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0100875	Hemimacroglossia	2	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	SHOX CL E G H	6473	314795				ORPHA	1	311	10853	312865
HP:0003712	HP:0003733	Thigh hypertrophy	2	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0030284	Triangular tongue	2	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0100875	Hemimacroglossia	2	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SHOX CL E G H	6473	127300	Leri Weill dyschondrosteosis	127300	C0265309	OMIM	1	311	10853	312865
HP:0003712	HP:0030284	Triangular tongue	2	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0003733	Thigh hypertrophy	2	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0100875	Hemimacroglossia	2	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	SMAD4 CL E G H	4089	2588				ORPHA	1	1739	6770	600993
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0000158	Macroglossia	1	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0000158	Macroglossia	1	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0000158	Macroglossia	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0000158	Macroglossia	1	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0000158	Macroglossia	1	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0000158	Macroglossia	1	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0000158	Macroglossia	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0009042	Marked muscular hypertrophy	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0030284	Triangular tongue	2	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0003733	Thigh hypertrophy	2	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0100875	Hemimacroglossia	2	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	CLCN1 CL E G H	1180	160800	Congenital myotonia, autosomal dominant form	160800	C2936781	OMIM	0	870	2019	118425
HP:0003712	HP:0003733	Thigh hypertrophy	2	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0030284	Triangular tongue	2	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0100875	Hemimacroglossia	2	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	CLCN1 CL E G H	1180	255700	Congenital myotonia, autosomal recessive form	255700	C0751360	OMIM	0	870	2019	118425
HP:0003712	HP:0030284	Triangular tongue	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0003733	Thigh hypertrophy	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0100875	Hemimacroglossia	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	0	885	2974	602378
HP:0003712	HP:0030284	Triangular tongue	2	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0003733	Thigh hypertrophy	2	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0003733	Thigh hypertrophy	2	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0030284	Triangular tongue	2	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0030284	Triangular tongue	2	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0003733	Thigh hypertrophy	2	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0100875	Hemimacroglossia	2	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0100875	Hemimacroglossia	2	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0100875	Hemimacroglossia	2	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	99736				ORPHA	0	1391	10591	603967
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	SCN4A CL E G H	6329	99734				ORPHA	0	1391	10591	603967
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SCN4A CL E G H	6329	682				ORPHA	0	1391	10591	603967
HP:0003712	HP:0030284	Triangular tongue	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0003733	Thigh hypertrophy	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0100875	Hemimacroglossia	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	0	1739	6770	600993