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Standards Ontologies Notations
muscular dystrophy

Summary
Definition
A myopathy is characterized by progressive skeletal muscle weakness degeneration.
Super Class
myopathy
External Links
Disease Ontology
DOID:9884
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 27 in total
Gene ID Gene Symbol Description Source
6442 SGCA sarcoglycan alpha
6443 SGCB sarcoglycan beta
6444 SGCD sarcoglycan delta
6445 SGCG sarcoglycan gamma
6645 SNTB2 syntrophin beta 2
7124 TNF tumor necrosis factor
7402 UTRN utrophin
10585 POMT1 protein O-mannosyltransferase 1
23345 SYNE1 spectrin repeat containing nuclear envelope protein 1
29954 POMT2 protein O-mannosyltransferase 2
Displaying entries 11 - 20 of 25 in total
Gene ID Gene Symbol Description Source
20650 Sntb2 syntrophin, basic 2
21926 Tnf tumor necrosis factor
24051 Sgcb sarcoglycan, beta (dystrophin-associated glycoprotein)
24052 Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein)
24053 Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein)
26903 Dysf dysferlin
64009 Syne1 spectrin repeat containing, nuclear envelope 1
68016 Cavin4 caveolae associated 4
68273 Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
78977 Popdc3 popeye domain containing 3
Displaying all 7 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
84430 Pomt1 protein-O-mannosyltransferase 1
116685 Lmnb1 lamin B1
308390 Fkrp fukutin related protein
362520 Fktn fukutin
362567 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying all 6 entries
Gene ID Gene Symbol Description Source
31024 tw twisted
36773 Dg Dystroglycan
37190 tn thin
37375 CG15651 uncharacterized protein
39297 rt rotated abdomen
3771968 Msp300 Muscle-specific protein 300 kDa
Displaying all 5 entries
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
569769 pomt1 protein-O-mannosyltransferase 1
571426 fkrp fukutin related protein
571876 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
100006345 fktn fukutin
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source Organism
414570 pomgnt1.L protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog Xenopus laevis (African clawed frog)
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
495292 pomgnt1.S protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog Xenopus laevis (African clawed frog)
495324 fktn.S fukutin S homeolog Xenopus laevis (African clawed frog)
100124956 fktn fukutin Xenopus tropicalis (tropical clawed frog)
100145309 fkrp fukutin related protein Xenopus tropicalis (tropical clawed frog)
100158594 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Xenopus tropicalis (tropical clawed frog)
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
108698503 fkrp.L fukutin related protein L homeolog Xenopus laevis (African clawed frog)
108698684 pomt2.L protein-O-mannosyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
Displaying all 5 entries
Gene ID Gene Symbol Description Source
172952 lam-3 Laminin subunit alpha lam-3
173469 T07D3.4 Fukutin;Nucleotidyltransferase family protein
182256 R193.2 VWFA domain-containing protein
188207 T07A5.1 Uncharacterized protein
189104 W02B3.4 Uncharacterized protein
Displaying all 4 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0003202 Skeletal muscle atrophy
HP:0008046 Abnormal retinal vascular morphology
HP:0000407 Sensorineural hearing impairment
HP:0100540 Palpebral edema
HP:0003307 Hyperlordosis
HP:0000298 Mask-like facies
HP:0003457 EMG abnormality
HP:0000499 Abnormal eyelash morphology
HP:0030680 Abnormal cardiovascular system morphology
HP:0003236 Elevated circulating creatine kinase concentration
Displaying 1 entry
Gene ID Gene Symbol Description
23347 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024