Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Muscle weakness (HP:0001324)

Parent Node:
Proximal muscle weakness (HP:0003701)

..Starting node
..Gowers sign (HP:0003391)

Term ID:

3391

Name:

Gowers sign

Synonym:

Gower sign; Positive Gower sign; Positive Gowers sign

Definition:

A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.

Comments:

Reference:

HP:0003391

Genes and Diseases:

Child Nodes:

Sister Nodes:

Late-onset proximal muscle weakness (HP:0003694)

Progressive proximal muscle weakness (HP:0009073)

Proximal muscle weakness in lower limbs (HP:0008994)

Proximal muscle weakness in upper limbs (HP:0008997)

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:0003391	HP:0003391	Gowers sign	0	ACTA1 CL E G H	58	97240				ORPHA	1	362	129	102610
HP:0003391	HP:0003391	Gowers sign	0	ACTA1 CL E G H	58	97240				ORPHA	1	325	129	102610
HP:0003391	HP:0003391	Gowers sign	0	ALG2 CL E G H	85365	616228	Myasthenic syndrome, congenital, 14	616228	C4015597	OMIM	1	241	23159	607905
HP:0003391	HP:0003391	Gowers sign	0	ALG2 CL E G H	85365	616228	Myasthenic syndrome, congenital, 14	616228	C4015597	OMIM	1	193	23159	607905
HP:0003391	HP:0003391	Gowers sign	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	593	735	613468
HP:0003391	HP:0003391	Gowers sign	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	420	735	613468
HP:0003391	HP:0003391	Gowers sign	0	BICD2 CL E G H	23299	363454				ORPHA	1	506	17208	609797
HP:0003391	HP:0003391	Gowers sign	0	BICD2 CL E G H	23299	363454				ORPHA	1	445	17208	609797
HP:0003391	HP:0003391	Gowers sign	0	BICD2 CL E G H	23299	615290	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	615290	C3809049	OMIM	1	506	17208	609797
HP:0003391	HP:0003391	Gowers sign	0	BICD2 CL E G H	23299	615290	Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant	615290	C3809049	OMIM	1	445	17208	609797
HP:0003391	HP:0003391	Gowers sign	0	BIN1 CL E G H	274	169186				ORPHA	1	487	1052	601248
HP:0003391	HP:0003391	Gowers sign	0	BIN1 CL E G H	274	169186				ORPHA	1	431	1052	601248
HP:0003391	HP:0003391	Gowers sign	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	487	1052	601248
HP:0003391	HP:0003391	Gowers sign	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	431	1052	601248
HP:0003391	HP:0003391	Gowers sign	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	139	1875	601443
HP:0003391	HP:0003391	Gowers sign	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	128	1875	601443
HP:0003391	HP:0003391	Gowers sign	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	382	1938	612395
HP:0003391	HP:0003391	Gowers sign	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	335	1938	612395
HP:0003391	HP:0003391	Gowers sign	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	357	1955	100690
HP:0003391	HP:0003391	Gowers sign	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	316	1955	100690
HP:0003391	HP:0003391	Gowers sign	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	673	1966	100725
HP:0003391	HP:0003391	Gowers sign	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	599	1966	100725
HP:0003391	HP:0003391	Gowers sign	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	467	2666	128239
HP:0003391	HP:0003391	Gowers sign	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	376	2666	128239
HP:0003391	HP:0003391	Gowers sign	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	6395	2928	300377
HP:0003391	HP:0003391	Gowers sign	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	5601	2928	300377
HP:0003391	HP:0003391	Gowers sign	0	DNA2 CL E G H	1763	352470				ORPHA	1	290	2939	601810
HP:0003391	HP:0003391	Gowers sign	0	DNA2 CL E G H	1763	352470				ORPHA	1	223	2939	601810
HP:0003391	HP:0003391	Gowers sign	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	290	2939	601810
HP:0003391	HP:0003391	Gowers sign	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	223	2939	601810
HP:0003391	HP:0003391	Gowers sign	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	383	14888	611332
HP:0003391	HP:0003391	Gowers sign	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	346	14888	611332
HP:0003391	HP:0003391	Gowers sign	0	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	750	26594	610285
HP:0003391	HP:0003391	Gowers sign	0	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	645	26594	610285
HP:0003391	HP:0003391	Gowers sign	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	59	3007	605951
HP:0003391	HP:0003391	Gowers sign	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	50	3007	605951
HP:0003391	HP:0003391	Gowers sign	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	679	3622	607440
HP:0003391	HP:0003391	Gowers sign	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	599	3622	607440
HP:0003391	HP:0003391	Gowers sign	0	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	406	4241	138292
HP:0003391	HP:0003391	Gowers sign	0	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	374	4241	138292
HP:0003391	HP:0003391	Gowers sign	0	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	406	4241	138292
HP:0003391	HP:0003391	Gowers sign	0	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	374	4241	138292
HP:0003391	HP:0003391	Gowers sign	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	153	33882	607875
HP:0003391	HP:0003391	Gowers sign	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	145	33882	607875
HP:0003391	HP:0003391	Gowers sign	0	LAMA2 CL E G H	3908	618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23	618138		OMIM	1	2739	6482	156225
HP:0003391	HP:0003391	Gowers sign	0	LAMA2 CL E G H	3908	618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23	618138		OMIM	1	2327	6482	156225
HP:0003391	HP:0003391	Gowers sign	0	MSTO1 CL E G H	55154	502423				ORPHA	1	67	29678	617619
HP:0003391	HP:0003391	Gowers sign	0	MSTO1 CL E G H	55154	502423				ORPHA	1	59	29678	617619
HP:0003391	HP:0003391	Gowers sign	0	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	450	7525	601296
HP:0003391	HP:0003391	Gowers sign	0	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	383	7525	601296
HP:0003391	HP:0003391	Gowers sign	0	MYPN CL E G H	84665	617336	Nemaline myopathy 11, autosomal recessive	617336	C4479186	OMIM	1	1033	23246	608517
HP:0003391	HP:0003391	Gowers sign	0	MYPN CL E G H	84665	617336	Nemaline myopathy 11, autosomal recessive	617336	C4479186	OMIM	1	887	23246	608517
HP:0003391	HP:0003391	Gowers sign	0	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	228	25896	610277
HP:0003391	HP:0003391	Gowers sign	0	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	162	25896	610277
HP:0003391	HP:0003391	Gowers sign	0	PLEC CL E G H	5339	254361				ORPHA	1	3842	9069	601282
HP:0003391	HP:0003391	Gowers sign	0	PLEC CL E G H	5339	254361				ORPHA	1	3355	9069	601282
HP:0003391	HP:0003391	Gowers sign	0	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	3842	9069	601282
HP:0003391	HP:0003391	Gowers sign	0	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	3355	9069	601282
HP:0003391	HP:0003391	Gowers sign	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	391	30802	609059
HP:0003391	HP:0003391	Gowers sign	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	334	30802	609059
HP:0003391	HP:0003391	Gowers sign	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	391	30802	609059
HP:0003391	HP:0003391	Gowers sign	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	334	30802	609059
HP:0003391	HP:0003391	Gowers sign	0	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	68	28900	612123
HP:0003391	HP:0003391	Gowers sign	0	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	56	28900	612123
HP:0003391	HP:0003391	Gowers sign	0	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	797	19139	606822
HP:0003391	HP:0003391	Gowers sign	0	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	662	19139	606822
HP:0003391	HP:0003391	Gowers sign	0	POMGNT2 CL E G H	84892	618135	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8	618135	CN253928	OMIM	1	322	25902	614828
HP:0003391	HP:0003391	Gowers sign	0	POMGNT2 CL E G H	84892	618135	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8	618135	CN253928	OMIM	1	267	25902	614828
HP:0003391	HP:0003391	Gowers sign	0	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	224	26267	615247
HP:0003391	HP:0003391	Gowers sign	0	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	192	26267	615247
HP:0003391	HP:0003391	Gowers sign	0	POMT1 CL E G H	10585	86812				ORPHA	1	686	9202	607423
HP:0003391	HP:0003391	Gowers sign	0	POMT1 CL E G H	10585	86812				ORPHA	1	609	9202	607423
HP:0003391	HP:0003391	Gowers sign	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	318	26162	617220
HP:0003391	HP:0003391	Gowers sign	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	229	26162	617220
HP:0003391	HP:0003391	Gowers sign	0	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	378	9863	601592
HP:0003391	HP:0003391	Gowers sign	0	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	322	9863	601592
HP:0003391	HP:0003391	Gowers sign	0	RYR1 CL E G H	6261	169186				ORPHA	1	4604	10483	180901
HP:0003391	HP:0003391	Gowers sign	0	RYR1 CL E G H	6261	169186				ORPHA	1	4101	10483	180901
HP:0003391	HP:0003391	Gowers sign	0	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	474	10805	600119
HP:0003391	HP:0003391	Gowers sign	0	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	422	10805	600119
HP:0003391	HP:0003391	Gowers sign	0	SGCB CL E G H	6443	119				ORPHA	1	374	10806	600900
HP:0003391	HP:0003391	Gowers sign	0	SGCB CL E G H	6443	119				ORPHA	1	327	10806	600900
HP:0003391	HP:0003391	Gowers sign	0	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	546	10807	601411
HP:0003391	HP:0003391	Gowers sign	0	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	510	10807	601411
HP:0003391	HP:0003391	Gowers sign	0	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	452	10809	608896
HP:0003391	HP:0003391	Gowers sign	0	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	409	10809	608896
HP:0003391	HP:0003391	Gowers sign	0	SPEG CL E G H	10290	169186				ORPHA	1	637	16901	615950
HP:0003391	HP:0003391	Gowers sign	0	SPEG CL E G H	10290	169186				ORPHA	1	265	16901	615950
HP:0003391	HP:0003391	Gowers sign	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	299	11831	188250
HP:0003391	HP:0003391	Gowers sign	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	230	11831	188250
HP:0003391	HP:0003391	Gowers sign	0	TPM2 CL E G H	7169	609285	Nemaline myopathy 4	609285	C1836447	OMIM	1	242	12011	190990
HP:0003391	HP:0003391	Gowers sign	0	TPM2 CL E G H	7169	609285	Nemaline myopathy 4	609285	C1836447	OMIM	1	234	12011	190990
HP:0003391	HP:0003391	Gowers sign	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	673	25751	614138
HP:0003391	HP:0003391	Gowers sign	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	573	25751	614138
HP:0003391	HP:0003391	Gowers sign	0	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	482	16380	602290
HP:0003391	HP:0003391	Gowers sign	0	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	410	16380	602290
HP:0003391	HP:0003391	Gowers sign	0	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	781	18083	605427
HP:0003391	HP:0003391	Gowers sign	0	TRPV4 CL E G H	59341	181405	Scapuloperoneal spinal muscular atrophy	181405	C0751335	OMIM	1	703	18083	605427
HP:0003391	HP:0003391	Gowers sign	0	TTN CL E G H	7273	169186				ORPHA	1	19028	12403	188840
HP:0003391	HP:0003391	Gowers sign	0	TTN CL E G H	7273	169186				ORPHA	1	17984	12403	188840
HP:0003391	HP:0003391	Gowers sign	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	230	22082	300913
HP:0003391	HP:0003391	Gowers sign	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	223	22082	300913
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003391	HP:0003391	Gowers sign	0	ACTA1 CL E G H	58	97244				ORPHA	0	362	129	102610
HP:0003391	HP:0003391	Gowers sign	0	ACTA1 CL E G H	58	97244				ORPHA	0	325	129	102610
HP:0003391	HP:0003391	Gowers sign	0	ALG14 CL E G H	199857	353327				ORPHA	0	97	28287	612866
HP:0003391	HP:0003391	Gowers sign	0	ALG14 CL E G H	199857	353327				ORPHA	0	76	28287	612866
HP:0003391	HP:0003391	Gowers sign	0	ALG2 CL E G H	85365	353327				ORPHA	0	241	23159	607905
HP:0003391	HP:0003391	Gowers sign	0	ALG2 CL E G H	85365	353327				ORPHA	0	193	23159	607905
HP:0003391	HP:0003391	Gowers sign	0	DPAGT1 CL E G H	1798	353327				ORPHA	0	233	2995	191350
HP:0003391	HP:0003391	Gowers sign	0	DPAGT1 CL E G H	1798	353327				ORPHA	0	199	2995	191350
HP:0003391	HP:0003391	Gowers sign	0	GATM CL E G H	2628	612718	Arginine:glycine amidinotransferase deficiency	612718	C2675179	OMIM	0	322	4175	602360
HP:0003391	HP:0003391	Gowers sign	0	GATM CL E G H	2628	612718	Arginine:glycine amidinotransferase deficiency	612718	C2675179	OMIM	0	280	4175	602360
HP:0003391	HP:0003391	Gowers sign	0	GFPT1 CL E G H	2673	353327				ORPHA	0	406	4241	138292
HP:0003391	HP:0003391	Gowers sign	0	GFPT1 CL E G H	2673	353327				ORPHA	0	374	4241	138292
HP:0003391	HP:0003391	Gowers sign	0	GMPPB CL E G H	29925	353327				ORPHA	0	234	22932	615320
HP:0003391	HP:0003391	Gowers sign	0	GMPPB CL E G H	29925	353327				ORPHA	0	203	22932	615320
HP:0003391	HP:0003391	Gowers sign	0	MYPN CL E G H	84665	171881				ORPHA	0	1033	23246	608517
HP:0003391	HP:0003391	Gowers sign	0	MYPN CL E G H	84665	171881				ORPHA	0	887	23246	608517
HP:0003391	HP:0003391	Gowers sign	0	NEFL CL E G H	4747	617882	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	617882	CN847583	OMIM	0	489	7739	162280
HP:0003391	HP:0003391	Gowers sign	0	NEFL CL E G H	4747	617882	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G	617882	CN847583	OMIM	0	438	7739	162280
HP:0003391	HP:0003391	Gowers sign	0	SELENON CL E G H	57190	97244				ORPHA	0	505	15999	606210
HP:0003391	HP:0003391	Gowers sign	0	SELENON CL E G H	57190	97244				ORPHA	0	454	15999	606210
HP:0003391	HP:0003391	Gowers sign	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	0	452	10809	608896
HP:0003391	HP:0003391	Gowers sign	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	0	409	10809	608896
HP:0003391	HP:0003391	Gowers sign	0	TPM2 CL E G H	7169	171881				ORPHA	0	242	12011	190990
HP:0003391	HP:0003391	Gowers sign	0	TPM2 CL E G H	7169	171881				ORPHA	0	234	12011	190990
HP:0003391	HP:0003391	Gowers sign	0	TPM3 CL E G H	7170	171881				ORPHA	0	283	12012	191030
HP:0003391	HP:0003391	Gowers sign	0	TPM3 CL E G H	7170	171881				ORPHA	0	261	12012	191030

Genes (52) :ACTA1 ALG14 ALG2 ASAH1 BICD2 BIN1 CFL2 CHKB CHRNA1 CHRNE DAG1 DMD DNA2 DNAJB6 DOK7 DPAGT1 DPM3 FKTN GATM GFPT1 GMPPB INPP5K LAMA2 MSTO1 MUSK MYPN NEFL ORAI1 PLEC PNPLA2 PNPLA8 POMGNT1 POMGNT2 POMK POMT1 PYROXD1 RAPSN RYR1 SELENON SGCA SGCB SGCD SGCG SPEG TK2 TPM2 TPM3 TRAPPC11 TRIM32 TRPV4 TTN VMA21

Diseases (53) :97240 97244 353327 616228 159950 363454 615290 169186 255200 610687 602541 608930 608931 613818 310200 352470 615156 603511 254300 612937 611588 612718 610542 617404 618138 502423 616325 171881 617336 617882 612782 254361 613723 98908 610717 251950 613157 618135 616094 86812 617258 616326 62 119 601287 353 253700 609560 609285 615356 254110 181405 310440

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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