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 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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	ABHD5 CL E G H	51099	98907				ORPHA	1	194	21396	604780
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	AGRN CL E G H	375790	98913				ORPHA	1	1782	329	103320
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	AK9 CL E G H	221264	98913				ORPHA	1	48	33814	615358
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	972	27337	608662
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	CHRNA1 CL E G H	1134	98913				ORPHA	1	398	1955	100690
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	CHRNB1 CL E G H	1140	98913				ORPHA	1	357	1961	100710
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	CHRND CL E G H	1144	98913				ORPHA	1	408	1965	100720
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	CHRNE CL E G H	1145	98913				ORPHA	1	795	1966	100725
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	COL13A1 CL E G H	1305	98913				ORPHA	1	397	2190	120350
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	411	14888	611332
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	DOK7 CL E G H	285489	98913				ORPHA	1	840	26594	610285
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	FKRP CL E G H	79147	34515				ORPHA	1	787	17997	606596
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	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:0003547	HP:0003547	Shoulder girdle muscle weakness	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	787	17997	606596
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	126	3954	601278
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	GNE CL E G H	10020	602	GNE myopathy		CN924915	ORPHA	1	783	23657	603824
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	GYG1 CL E G H	2992	263297				ORPHA	1	195	4699	603942
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	248	5037	607137
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	LRP4 CL E G H	4038	98913				ORPHA	1	790	6696	604270
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MATR3 CL E G H	9782	606070	Amyotrophic lateral sclerosis 21	606070	C3807521	OMIM	1	333	6912	164015
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	1		7479	590025
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MUSK CL E G H	4593	98913				ORPHA	1	496	7525	601296
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MYH7 CL E G H	4625	437572				ORPHA	1	3612	7577	160760
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MYOT CL E G H	9499	266				ORPHA	1	295	12399	604103
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	443	30802	609059
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	RAPSN CL E G H	5913	98913				ORPHA	1	433	9863	601592
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	SCN4A CL E G H	6329	98913				ORPHA	1	1391	10591	603967
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TNPO3 CL E G H	23534	608423	Limb-girdle muscular dystrophy, type 1F	608423	C1842062	OMIM	1	437	17103	610032
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	516	16380	602290
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	473	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	BICD2 CL E G H	23299	363454				ORPHA	0	590	17208	609797
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	MATR3 CL E G H	9782	600				ORPHA	0	333	6912	164015
HP:0003547	HP:0003547	Shoulder girdle muscle weakness	0	RYR1 CL E G H	6261	98905				ORPHA	0	5062	10483	180901

Genes (36) :ABHD5 AGRN AK9 ANO5 BICD2 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DNAJB6 DOK7 FKRP FRG1 GNE GYG1 HNRNPDL LRP4 MATR3 MT-TE MUSK MYH7 MYOT PNPLA2 POLG POLG2 RAPSN RRM2B RYR1 SCN4A SLC25A4 TNPO3 TRIM32 TRNE TWNK VCP

Diseases (23) :98907 98913 611307 363454 603511 34515 606612 607155 158900 602 263297 609115 600 606070 437572 266 98908 254892 98905 608423 254110 2596 167320

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

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