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:
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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040281 - Very frequent	304
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040281 - Very frequent	108
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	107
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	68
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	.	31
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040281 - Very frequent	221
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	1129
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	508
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	171
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent	27
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0006785	HP:0006785	Limb-girdle muscular dystrophy	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent	27

Genes (16) :ACTA1 ANO5 CRPPA DAG1 DPM3 EMD FHL1 HNRNPA1 HNRNPDL LMNA POMT2 SGCA SYNE1 SYNE2 TMEM43 TRAPPC11

Diseases (16) :ORPHA:97240 ORPHA:206549 OMIM:616052 ORPHA:280333 OMIM:612937 ORPHA:98863 OMIM:615424 OMIM:609115 ORPHA:98853 ORPHA:98855 OMIM:181350 ORPHA:206559 OMIM:608099 ORPHA:369847 OMIM:615356 ORPHA:369840

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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