Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 limbs (HP:0009127)

Grandparent Node:
Muscle weakness (HP:0001324)

Parent Node:
Abnormality of the shoulder girdle musculature (HP:0001435)

Parent Node:
Limb-girdle muscle weakness (HP:0003325)

..Starting node
..Shoulder girdle muscle weakness (HP:0003547)

Term ID:

3547

Name:

Shoulder girdle muscle weakness

Synonym:

Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles

Definition:

The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.

Comments:

Reference:

HP:0003547

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pelvic girdle muscle weakness (HP:0003749)

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:0003547	HP:0003547	Shoulder girdle muscle weakness	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.	304
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040284 - Very rare	46
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040282 - Frequent	157
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent	173
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040283 - Occasional	80
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent	1269
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040281 - Very frequent	75
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040281 - Very frequent	65
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure	.	7128
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63

Genes (52) :ABHD5 ACTA1 AGRN AK9 ANO5 BICD2 CFL2 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DNAJB6 DOK7 DYSF FKRP FRG1 GALC GDAP1 GNE GYG1 HACD1 HNRNPDL ITGA7 LRIF1 LRP4 MAP3K20 MATR3 MUSK MYH7 MYL2 MYOT PNPLA2 POLG POLG2 PSAP RAPSN RRM2B RYR1 SCN4A SELENON SLC25A4 SMN1 SMN2 TNPO3 TPM2 TPM3 TRIM32 TRNE TTN TWNK VCP

Diseases (33) :ORPHA:98907 ORPHA:2020 ORPHA:98913 OMIM:611307 ORPHA:363454 OMIM:610687 OMIM:603511 ORPHA:45448 ORPHA:34515 OMIM:606612 OMIM:607155 OMIM:158900 ORPHA:206436 ORPHA:99948 ORPHA:602 ORPHA:263297 OMIM:616199 OMIM:609115 OMIM:619477 OMIM:606070 ORPHA:600 ORPHA:437572 OMIM:608358 ORPHA:266 ORPHA:98908 ORPHA:254892 ORPHA:98905 OMIM:253400 OMIM:608423 OMIM:254110 ORPHA:2596 OMIM:603689 OMIM:167320

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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