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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
For additional species annotation, visit the Alliance of Genome Resources.


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lethal congenital contracture syndrome term browser
Symbol Object Name 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 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 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 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 ClinVar
OMIM
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gldn gliomedin ISO ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 11
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11
ClinVar
OMIM
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2
ClinVar Annotator: match by OMIM:607598
OMIM
ClinVar
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 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: MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B
ClinVar Annotator: match by OMIM:611369
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 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
ClinVar Annotator: match by OMIM:614915
OMIM
ClinVar
PMID:22610851 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by OMIM:615368 OMIM
ClinVar
PMID:23092955 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 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 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 ClinVar
OMIM
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
Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name 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 ClinVar
OMIM
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 Tex49 testis expressed 49 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 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 ClinVar
OMIM
PMID:25741868 PMID:26004201 PMID:26752647 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 17205
    physical disorder 3086
      lethal congenital contracture syndrome 12
        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 1
        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 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                arthrogryposis multiplex congenita 116
                  lethal congenital contracture syndrome 12
                    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 1
                    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