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RGD uses the Human Disease Ontology (DO, 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
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: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:30311386, 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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          congenital muscular dystrophy 69
            congenital muscular dystrophy due to LMNA mutation 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  atrophic muscular disease 329
                    muscular dystrophy 327
                      congenital muscular dystrophy 69
                        congenital muscular dystrophy due to LMNA mutation 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.