Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:nemaline myopathy 11
go back to main search page
Accession:DOID:0110933 term browser browse the term
Definition:A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. (DO)
Synonyms:exact_synonym: CMYP4;   MYPN-related myopathy;   NEM11;   congenital myopathy 24;   nemaline myopathy 11, autosomal recessive
 broad_synonym: MYPN-RELATED CONDITION
 xref: MONDO:0015023;   OMIM:617336


show annotations for term's descendants           Sort by:
nemaline myopathy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC132089829 Neanderthal introgressed variant-containing enhancer experimental_16132 IAGP ClinVar Annotator: match by term: MYPN-related myopathy
ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive		 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,194,459...68,194,628 JBrowse link
G MYPN myopalladin IAGP
EXP
ISS		 ClinVar Annotator: match by term: MYPN-related myopathy
ClinVar Annotator: match by term: MYPN-related myopathy | ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM:617336		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:17576681 PMID:18006477 PMID:22286171 PMID:22337857 More... NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    Developmental Disease 28613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24648
        genetic disease 23840
          monogenic disease 18586
            autosomal genetic disease 16857
              autosomal recessive disease 10332
                nemaline myopathy 11 2
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        peripheral nervous system disease 5397
          neuropathy 5142
            neuromuscular disease 4050
              muscular disease 2812
                muscle tissue disease 1720
                  myopathy 1395
                    congenital myopathy 329
                      nemaline myopathy 84
                        nemaline myopathy 11 2
paths to the root