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:
Abnormal skeletal muscle morphology (HP:0011805)

Parent Node:
Limb-girdle muscle atrophy (HP:0003797)

Parent Node:
Muscular dystrophy (HP:0003560)

..Starting node
..Limb-girdle muscular dystrophy (HP:0006785)

Term ID:

6785

Name:

Limb-girdle muscular dystrophy

Synonym:

limb girdle muscular dystrophy

Definition:

Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).

Comments:

Reference:

HP:0006785

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital muscular dystrophy (HP:0003741)

Late-onset muscular dystrophy (HP:0007081)

Scapulohumeral muscular dystrophy (HP:0008970)

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:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	ACTA1 CL E G H	58	97240				ORPHA	1	325	129	102610
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	ACTA1 CL E G H	58	97240				ORPHA	1	362	129	102610
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	ANO5 CL E G H	203859	206549				ORPHA	1	786	27337	608662
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	ANO5 CL E G H	203859	206549				ORPHA	1	900	27337	608662
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	EMD CL E G H	2010	98863				ORPHA	1	530	3331	300384
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	EMD CL E G H	2010	98863				ORPHA	1	579	3331	300384
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	FHL1 CL E G H	2273	98863				ORPHA	1	486	3702	300163
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	FHL1 CL E G H	2273	98863				ORPHA	1	437	3702	300163
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	59	5031	164017
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	HNRNPA1 CL E G H	3178	615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	615424	C3809469	OMIM	1	60	5031	164017
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	158	5037	607137
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	204	5037	607137
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	ISPD CL E G H	729920	616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	616052	C4015095	OMIM	1	549	37276	614631
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	ISPD CL E G H	729920	616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	616052	C4015095	OMIM	1	545	37276	614631
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	LMNA CL E G H	4000	98853				ORPHA	1	1486	6636	150330
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	LMNA CL E G H	4000	98855				ORPHA	1	1486	6636	150330
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	LMNA CL E G H	4000	98853				ORPHA	1	1347	6636	150330
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	LMNA CL E G H	4000	98855				ORPHA	1	1347	6636	150330
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	LMNA CL E G H	4000	181350	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	181350	C0410190	OMIM	1	1347	6636	150330
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	LMNA CL E G H	4000	181350	Benign scapuloperoneal muscular dystrophy with cardiomyopathy	181350	C0410190	OMIM	1	1486	6636	150330
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	474	10805	600119
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	422	10805	600119
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	SYNE1 CL E G H	23345	98853				ORPHA	1	3641	17089	608441
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	SYNE1 CL E G H	23345	98853				ORPHA	1	4170	17089	608441
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	SYNE2 CL E G H	23224	98853				ORPHA	1	2222	17084	608442
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	SYNE2 CL E G H	23224	98853				ORPHA	1	1875	17084	608442
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TMEM43 CL E G H	79188	98853				ORPHA	1	585	28472	612048
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TMEM43 CL E G H	79188	98853				ORPHA	1	653	28472	612048
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TRAPPC11 CL E G H	60684	369847				ORPHA	1	573	25751	614138
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	673	25751	614138
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	573	25751	614138
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TRAPPC11 CL E G H	60684	369847				ORPHA	1	673	25751	614138
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	673	25751	614138
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	573	25751	614138
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (14) :ACTA1 ANO5 CRPPA EMD FHL1 HNRNPA1 HNRNPDL ISPD LMNA SGCA SYNE1 SYNE2 TMEM43 TRAPPC11

Diseases (13) :97240 206549 616052 98863 615424 609115 98855 98853 181350 608099 369840 369847 615356

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

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