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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
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Accession:DOID:0060558 term browser browse the term
Definition:A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. (DO)
Synonyms:xref: GARD:12643;   ICD10CM:Q68.8;   OMIM:PS253310;   ORDO:294965


show annotations for term's descendants           Sort by:
lethal congenital contracture syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome ClinVar NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
lethal congenital contracture syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 More... NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
Lethal Congenital Contracture Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:26908619 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
Lethal Congenital Contracture Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gldn gliomedin ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680123 PMID:31680349 More... NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
lethal congenital contracture syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 susceptibility ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17701904 PMID:25741868 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers 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 chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988 		JBrowse link
lethal congenital contracture syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:22610851 PMID:25741868 NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
Lethal Congenital Contracture Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 OMIM
ClinVar		 PMID:23092955 PMID:25741868 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
Lethal Congenital Contracture Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 OMIM
ClinVar		 PMID:25055871 PMID:25741868 NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685 		JBrowse link
Lethal Congenital Contracture Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 OMIM
ClinVar		 PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 More... NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 ClinVar NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy6 adenylate cyclase 6 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 More... NCBI chr 7:129,742,827...129,763,922
Ensembl chr 7:129,742,838...129,763,754 		JBrowse link
G Spmip11 sperm microtubule inner protein 11 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar PMID:24319099 NCBI chr 7:129,720,950...129,742,485
Ensembl chr 7:129,720,950...129,742,485 		JBrowse link
Lethal Congenital Contracture Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:26004201 PMID:26752647 PMID:28492532 NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      lethal congenital contracture syndrome 13
        Lethal Congenital Contracture Syndrome 10 1
        Lethal Congenital Contracture Syndrome 11 1
        Lethal Congenital Contracture Syndrome 5 1
        Lethal Congenital Contracture Syndrome 6 1
        Lethal Congenital Contracture Syndrome 7 2
        Lethal Congenital Contracture Syndrome 8 2
        Lethal Congenital Contracture Syndrome 9 1
        lethal congenital contracture syndrome 1 1
        lethal congenital contracture syndrome 2 1
        lethal congenital contracture syndrome 3 1
        lethal congenital contracture syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        peripheral nervous system disease 4059
          neuropathy 3838
            neuromuscular disease 3021
              muscular disease 2112
                arthrogryposis multiplex congenita 232
                  lethal congenital contracture syndrome 13
                    Lethal Congenital Contracture Syndrome 10 1
                    Lethal Congenital Contracture Syndrome 11 1
                    Lethal Congenital Contracture Syndrome 5 1
                    Lethal Congenital Contracture Syndrome 6 1
                    Lethal Congenital Contracture Syndrome 7 2
                    Lethal Congenital Contracture Syndrome 8 2
                    Lethal Congenital Contracture Syndrome 9 1
                    lethal congenital contracture syndrome 1 1
                    lethal congenital contracture syndrome 2 1
                    lethal congenital contracture syndrome 3 1
                    lethal congenital contracture syndrome 4 1
paths to the root