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:
Abnormality of the musculature of the lower limbs (HP:0001437)

Grandparent Node:
Skeletal muscle hypertrophy (HP:0003712)

Parent Node:
Abnormality of the calf musculature (HP:0001430)

Parent Node:
Muscle hypertrophy of the lower extremities (HP:0008968)

..Starting node
..Calf muscle hypertrophy (HP:0008981)

Term ID:

8981

Name:

Calf muscle hypertrophy

Synonym:

Calf hypertrophy; Increased size of calf muscles; Muscular hypertrophy of the calf muscles

Definition:

Muscle hypertrophy affecting the calf muscles.

Comments:

Reference:

HP:0008981

Genes and Diseases:

Child Nodes:

Sister Nodes:

Thigh hypertrophy (HP:0003733)

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:0008981	HP:0008981	Calf muscle hypertrophy	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	972	27337	608662
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	972	27337	608662
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	556	644	313700
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	CAPN3 CL E G H	825	267				ORPHA	1	1288	1480	114240
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	390	1529	601253
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	CIDEC CL E G H	63924	435651				ORPHA	1	81	24229	612120
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	DMD CL E G H	1756	98896				ORPHA	1	7370	2928	300377
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	DPM3 CL E G H	54344	263494				ORPHA	1	60	3007	605951
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	FKRP CL E G H	79147	34515				ORPHA	1	787	17997	606596
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	787	17997	606596
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	783	3622	607440
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	126	3954	601278
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	ISPD CL E G H	729920	616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	616052	C4015095	OMIM	1	647	37276	614631
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	LAMA2 CL E G H	3908	618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23	618138		OMIM	1	3283	6482	156225
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	219	16084	607908
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	LMNA CL E G H	4000	79474				ORPHA	1	1622	6636	150330
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	LTBP4 CL E G H	8425	98896				ORPHA	1	540	6717	604710
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	243	17797	609479
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	PLIN1 CL E G H	5346	280356				ORPHA	1	101	9076	170290
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	POMGNT2 CL E G H	84892	618135	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8	618135	CN253928	OMIM	1	346	25902	614828
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	POMT1 CL E G H	10585	86812				ORPHA	1	737	9202	607423
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	537	10805	600119
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	SGCB CL E G H	6443	119				ORPHA	1	419	10806	600900
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	587	10807	601411
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	1	484	10809	608896
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	SLC25A1 CL E G H	6576	618197	MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	618197		OMIM	1	505	10979	190315
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	254	11610	604488
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	22859	12403	188840
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	ACTA1 CL E G H	58	2020				ORPHA	0	392	129	102610
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	ANO5 CL E G H	203859	206549				ORPHA	0	972	27337	608662
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	BIN1 CL E G H	274	169189				ORPHA	0	552	1052	601248
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	0	248	15559	615903
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	DNM2 CL E G H	1785	169189				ORPHA	0	885	2974	602378
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	HACD1 CL E G H	9200	2020				ORPHA	0	109	9639	610467
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	ITGA7 CL E G H	3679	2020				ORPHA	0	718	6143	600536
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	KCNA1 CL E G H	3736	37612				ORPHA	0	476	6218	176260
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	MAP3K20 CL E G H	51776	2020				ORPHA	0	243	17797	609479
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	MTMR14 CL E G H	64419	169189				ORPHA	0	156	26190	611089
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	MYF6 CL E G H	4618	169189				ORPHA	0	78	7566	159991
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	MYL2 CL E G H	4633	2020				ORPHA	0	445	7583	160781
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	PLEC CL E G H	5339	254361				ORPHA	0	4152	9069	601282
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	PMP22 CL E G H	5376	101081				ORPHA	0	453	9118	601097
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	RYR1 CL E G H	6261	169189				ORPHA	0	5062	10483	180901
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	SELENON CL E G H	57190	2020				ORPHA	0	537	15999	606210
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	TPM2 CL E G H	7169	2020				ORPHA	0	280	12011	190990
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	TPM3 CL E G H	7170	2020				ORPHA	0	300	12012	191030
HP:0008981	HP:0008981	Calf muscle hypertrophy	0	TTN CL E G H	7273	178464				ORPHA	0	22859	12403	188840

Genes (43) :ACTA1 ANO5 AR BIN1 CAPN3 CAV3 CHCHD10 CIDEC CRPPA DMD DNM2 DPM3 FKRP FKTN FRG1 HACD1 ISPD ITGA7 KCNA1 LAMA2 LIMS2 LMNA LTBP4 MAP3K20 MTMR14 MYF6 MYL2 PLEC PLIN1 PMP22 POMGNT2 POMT1 RYR1 SELENON SGCA SGCB SGCD SGCG SLC25A1 TCAP TPM2 TPM3 TTN

Diseases (36) :2020 206549 611307 613319 313200 169189 267 614321 615048 435651 616052 98896 263494 34515 606612 607155 253800 158900 37612 618138 616827 79474 617760 254361 280356 101081 618135 86812 608099 119 601287 353 618197 601954 178464 611705

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

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