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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:lethal congenital contracture syndrome 4
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Accession:DOID:0060654 term browser browse the term
Definition:A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. (DO)
Synonyms:exact_synonym: LCCS4
 primary_id: OMIM:614915
 xref: GARD:12645


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lethal congenital contracture syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4		 OMIM
CTD
ClinVar		 PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      lethal congenital contracture syndrome 12
        lethal congenital contracture syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              muscular disease 2141
                arthrogryposis multiplex congenita 242
                  lethal congenital contracture syndrome 12
                    lethal congenital contracture syndrome 4 1
paths to the root