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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 3
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Accession:DOID:0060653 term browser browse the term
Definition:A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: LCCS3;   multiple contractural syndrome, Israeli Bedouin type B;   multiple contracture syndrome, Israeli Bedouin type B
 primary_id: MESH:C566961
 alt_id: OMIM:611369
 xref: ORDO:137783


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lethal congenital contracture syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 OMIM
ClinVar		 PMID:17701898 PMID:25741868 NCBI chr19:2,655,674...2,727,454
Ensembl chr19:3,606,279...3,641,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      lethal congenital contracture syndrome 12
        lethal congenital contracture syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4036
          neuropathy 3845
            neuromuscular disease 3025
              muscular disease 2118
                muscle tissue disease 1274
                  myopathy 986
                    muscular atrophy 86
                      lethal congenital contracture syndrome 3 1
paths to the root