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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:congenital muscular dystrophy due to LMNA mutation
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Accession:DOID:0110640 term browser browse the term
Definition:A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: L-CMD;   Mdcl;   congenital muscular dystrophy LMNA-related
 primary_id: MESH:C567708
 alt_id: OMIM:613205;   RDO:0015703
 xref: NCI:C148369;   ORDO:157973
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by OMIM:613205
associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)
ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related
OMIM
ClinVar
PMID:10612827 PMID:10655060 PMID:10939567 PMID:11503164 PMID:11792809 PMID:12057196 PMID:12467752 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15140538 PMID:15148145 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15622532 PMID:15961312 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17274801 PMID:17377071 PMID:17881656 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21465660 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21653823 PMID:22090424 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22491857 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23427149 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24375749 PMID:24503780 PMID:24508248 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24806962 PMID:24846508 PMID:25214167 PMID:25326635 PMID:25637381 PMID:25741868 PMID:26098624 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27876398 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:29893365 PMID:30055862 PMID:30165862, PMID:24508248 RGD:12791283 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital muscular dystrophy 71
        congenital muscular dystrophy due to LMNA mutation 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  atrophic muscular disease 316
                    muscular dystrophy 314
                      congenital muscular dystrophy 71
                        congenital muscular dystrophy due to LMNA mutation 1
paths to the root