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:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome		72
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria		76
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	85
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9		21
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome		5
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	105
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	11
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease	.	148
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	48
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome		4
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy		8
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type		16
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy		1496
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome		79
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis		9
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome		6
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome		13
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome		7
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy		7
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy		92
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form		136
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent	134
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MSTN CL E G H	2660	4223	OMIM:614160	MUSCLE HYPERTROPHY; MSLHP		34
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis		51
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis		90
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia		90
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis		63
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia		63
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia		63
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11		6
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.	19
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.	180
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		33
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.	221
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	.	221
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2		6
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent	42
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent	42
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type		28
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital		235
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040281 - Very frequent	49
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease		948
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040283 - Occasional	263
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional	263
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional	263
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.	263
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	263
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg		263
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis		274
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia		274
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1		59
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8		4
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4		9
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis		97
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia		97
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome		9
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0003712	HP:0003712	Skeletal muscle hypertrophy	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0003712	HP:0012895	Scapular muscle hypertrophy	1	CL E G H
HP:0003712	HP:0012894	Paraspinal muscle hypertrophy	1	CL E G H
HP:0003712	HP:0000158	Macroglossia	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0003712	HP:0000158	Macroglossia	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent	72
HP:0003712	HP:0000158	Macroglossia	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0003712	HP:0000158	Macroglossia	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0003712	HP:0000158	Macroglossia	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040282 - Frequent	76
HP:0003712	HP:0000158	Macroglossia	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0003712	HP:0000158	Macroglossia	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0003712	HP:0000158	Macroglossia	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	54
HP:0003712	HP:0000158	Macroglossia	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0003712	HP:0000158	Macroglossia	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0003712	HP:0000158	Macroglossia	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0003712	HP:0000158	Macroglossia	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0003712	HP:0000158	Macroglossia	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0003712	HP:0000158	Macroglossia	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0003712	HP:0000158	Macroglossia	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	5
HP:0003712	HP:0000158	Macroglossia	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0003712	HP:0000158	Macroglossia	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0003712	HP:0000158	Macroglossia	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0003712	HP:0000158	Macroglossia	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0003712	HP:0000158	Macroglossia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0003712	HP:0000158	Macroglossia	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0003712	HP:0000158	Macroglossia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0003712	HP:0000158	Macroglossia	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0003712	HP:0000158	Macroglossia	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0003712	HP:0000158	Macroglossia	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0003712	HP:0000158	Macroglossia	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	4
HP:0003712	HP:0000158	Macroglossia	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy		8
HP:0003712	HP:0012893	Neck muscle hypertrophy	1	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent	16
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133
HP:0003712	HP:0000158	Macroglossia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0003712	HP:0000158	Macroglossia	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0003712	HP:0000158	Macroglossia	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0003712	HP:0000158	Macroglossia	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003712	HP:0000158	Macroglossia	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0003712	HP:0000158	Macroglossia	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy		1496
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003712	HP:0000158	Macroglossia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0003712	HP:0000158	Macroglossia	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	79
HP:0003712	HP:0000158	Macroglossia	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0003712	HP:0000158	Macroglossia	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0003712	HP:0000158	Macroglossia	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0003712	HP:0000158	Macroglossia	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0003712	HP:0000158	Macroglossia	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0003712	HP:0000158	Macroglossia	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0003712	HP:0000158	Macroglossia	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent	223
HP:0003712	HP:0000158	Macroglossia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0003712	HP:0000158	Macroglossia	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040282 - Frequent	18
HP:0003712	HP:0000158	Macroglossia	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040282 - Frequent	18
HP:0003712	HP:0000158	Macroglossia	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0003712	HP:0000158	Macroglossia	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0003712	HP:0000158	Macroglossia	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0003712	HP:0000158	Macroglossia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0003712	HP:0000158	Macroglossia	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0003712	HP:0000158	Macroglossia	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0003712	HP:0000158	Macroglossia	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0003712	HP:0000158	Macroglossia	1	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	9
HP:0003712	HP:0000158	Macroglossia	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0003712	HP:0000158	Macroglossia	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0003712	HP:0000158	Macroglossia	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent	407
HP:0003712	HP:0000158	Macroglossia	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0003712	HP:0000158	Macroglossia	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0003712	HP:0000158	Macroglossia	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0003712	HP:0000158	Macroglossia	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0003712	HP:0000158	Macroglossia	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0003712	HP:0000158	Macroglossia	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0003712	HP:0000158	Macroglossia	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0003712	HP:0000158	Macroglossia	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0003712	HP:0000158	Macroglossia	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0003712	HP:0000158	Macroglossia	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003712	HP:0000158	Macroglossia	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0003712	HP:0000158	Macroglossia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003712	HP:0000158	Macroglossia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003712	HP:0000158	Macroglossia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003712	HP:0000158	Macroglossia	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0003712	HP:0000158	Macroglossia	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0003712	HP:0000158	Macroglossia	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	6
HP:0003712	HP:0000158	Macroglossia	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0003712	HP:0000158	Macroglossia	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0003712	HP:0000158	Macroglossia	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0003712	HP:0000158	Macroglossia	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0003712	HP:0000158	Macroglossia	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0003712	HP:0000158	Macroglossia	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0003712	HP:0000158	Macroglossia	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003712	HP:0000158	Macroglossia	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0003712	HP:0000158	Macroglossia	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0003712	HP:0000158	Macroglossia	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0003712	HP:0000158	Macroglossia	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0003712	HP:0000158	Macroglossia	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0003712	HP:0000158	Macroglossia	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0003712	HP:0000158	Macroglossia	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0003712	HP:0000158	Macroglossia	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0003712	HP:0000158	Macroglossia	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0003712	HP:0000158	Macroglossia	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0003712	HP:0000158	Macroglossia	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0003712	HP:0000158	Macroglossia	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0003712	HP:0000158	Macroglossia	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1		145
HP:0003712	HP:0000158	Macroglossia	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	13
HP:0003712	HP:0000158	Macroglossia	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0003712	HP:0000158	Macroglossia	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0003712	HP:0000158	Macroglossia	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional	7
HP:0003712	HP:0000158	Macroglossia	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0003712	HP:0000158	Macroglossia	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0003712	HP:0000158	Macroglossia	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0003712	HP:0000158	Macroglossia	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0003712	HP:0000158	Macroglossia	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0003712	HP:0000158	Macroglossia	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0003712	HP:0000158	Macroglossia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy		92
HP:0003712	HP:0000158	Macroglossia	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0003712	HP:0000158	Macroglossia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0003712	HP:0000158	Macroglossia	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0003712	HP:0000158	Macroglossia	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion		2
HP:0003712	HP:0000158	Macroglossia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0003712	HP:0000158	Macroglossia	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040282 - Frequent	74
HP:0003712	HP:0000158	Macroglossia	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0003712	HP:0000158	Macroglossia	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0003712	HP:0000158	Macroglossia	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0003712	HP:0000158	Macroglossia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0003712	HP:0000158	Macroglossia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003712	HP:0000158	Macroglossia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0003712	HP:0000158	Macroglossia	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0003712	HP:0000158	Macroglossia	1	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	51
HP:0003712	HP:0000158	Macroglossia	1	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	90
HP:0003712	HP:0000158	Macroglossia	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	90
HP:0003712	HP:0000158	Macroglossia	1	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	63
HP:0003712	HP:0000158	Macroglossia	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0003712	HP:0000158	Macroglossia	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent	63
HP:0003712	HP:0000158	Macroglossia	1	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	63
HP:0003712	HP:0000158	Macroglossia	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0003712	HP:0000158	Macroglossia	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003712	HP:0000158	Macroglossia	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.	6
HP:0003712	HP:0000158	Macroglossia	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0003712	HP:0000158	Macroglossia	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	162
HP:0003712	HP:0000158	Macroglossia	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0003712	HP:0040265	Upper limb muscle hypertrophy	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0003712	HP:0000158	Macroglossia	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		33
HP:0003712	HP:0000158	Macroglossia	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0003712	HP:0000158	Macroglossia	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0003712	HP:0000158	Macroglossia	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0003712	HP:0000158	Macroglossia	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0003712	HP:0000158	Macroglossia	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.	221
HP:0003712	HP:0000158	Macroglossia	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0003712	HP:0000158	Macroglossia	1	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional	6
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003712	HP:0000158	Macroglossia	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0003712	HP:0000158	Macroglossia	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0003712	HP:0000158	Macroglossia	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0003712	HP:0000158	Macroglossia	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent	28
HP:0003712	HP:0000158	Macroglossia	1	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	HP:0040283 - Occasional	235
HP:0003712	HP:0000158	Macroglossia	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0003712	HP:0000158	Macroglossia	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0003712	HP:0000158	Macroglossia	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	948
HP:0003712	HP:0000158	Macroglossia	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040281 - Very frequent	948
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0003712	HP:0000158	Macroglossia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0003712	HP:0000158	Macroglossia	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0003712	HP:0000158	Macroglossia	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0003712	HP:0000158	Macroglossia	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0003712	HP:0000158	Macroglossia	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional	263
HP:0003712	HP:0012892	Facial muscle hypertrophy	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0003712	HP:0000158	Macroglossia	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	237
HP:0003712	HP:0000158	Macroglossia	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	147
HP:0003712	HP:0000158	Macroglossia	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	129
HP:0003712	HP:0000158	Macroglossia	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	60
HP:0003712	HP:0000158	Macroglossia	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0003712	HP:0000158	Macroglossia	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0003712	HP:0000158	Macroglossia	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0003712	HP:0000158	Macroglossia	1	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	274
HP:0003712	HP:0000158	Macroglossia	1	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	274
HP:0003712	HP:0000158	Macroglossia	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	59
HP:0003712	HP:0000158	Macroglossia	1	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.	59
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0003712	HP:0000158	Macroglossia	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.	617
HP:0003712	HP:0000158	Macroglossia	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0003712	HP:0000158	Macroglossia	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0003712	HP:0000158	Macroglossia	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0003712	HP:0000158	Macroglossia	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent	14
HP:0003712	HP:0000158	Macroglossia	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	HP:0040283 - Occasional	14
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0003712	HP:0000158	Macroglossia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0003712	HP:0000158	Macroglossia	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional	13
HP:0003712	HP:0000158	Macroglossia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0003712	HP:0000158	Macroglossia	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	155
HP:0003712	HP:0000158	Macroglossia	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0003712	HP:0000158	Macroglossia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	92
HP:0003712	HP:0000158	Macroglossia	1	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8	.	4
HP:0003712	HP:0000158	Macroglossia	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional	101
HP:0003712	HP:0000158	Macroglossia	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0003712	HP:0000158	Macroglossia	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0003712	HP:0000158	Macroglossia	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0003712	HP:0000158	Macroglossia	1	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent	97
HP:0003712	HP:0000158	Macroglossia	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0003712	HP:0000158	Macroglossia	1	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	97
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0003712	HP:0000158	Macroglossia	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0003712	HP:0008968	Muscle hypertrophy of the lower extremities	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0003712	HP:0000158	Macroglossia	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040282 - Frequent	1
HP:0003712	HP:0000158	Macroglossia	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0003712	HP:0000158	Macroglossia	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0003712	HP:0000158	Macroglossia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003712	HP:0000158	Macroglossia	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0003712	HP:0000158	Macroglossia	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040283 - Occasional	9
HP:0003712	HP:0003720	Generalized muscle hypertrophy	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0003712	HP:0000158	Macroglossia	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0003712	HP:0040267	Distal upper limb muscle hypertrophy	2	CL E G H
HP:0003712	HP:0100875	Hemimacroglossia	2	CL E G H
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional	304
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	99
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type	.	148
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	HP:0040283 - Occasional	11
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040282 - Frequent	108
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	167
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent	9
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional	600
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	157
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040282 - Frequent	157
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003712	HP:0003733	Thigh hypertrophy	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0003712	HP:0003733	Thigh hypertrophy	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	34
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040283 - Occasional	145
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	136
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0003712	HP:0030284	Triangular tongue	2	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	92
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.	2
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	7
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	19
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003712	HP:0040266	Proximal upper limb muscle hypertrophy	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040281 - Very frequent	19
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional	79
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	.	33
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	213
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0003712	HP:0003733	Thigh hypertrophy	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent	221
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.	223
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.	28
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional	7128
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0003712	HP:0008981	Calf muscle hypertrophy	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1