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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 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
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:3993672, PMID:7770128, PMID:16892327, PMID:18204449, PMID:23421748, PMID:24243016, PMID:24961629, PMID:25343993, PMID:25741868, PMID:27684565, PMID:28492532, PMID:28884921, PMID:29899397 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
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:26908619 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
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 NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
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 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
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 7:11,267,207...11,294,291
Ensembl chr 7:11,267,218...11,294,249
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 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
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 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
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 NCBI chr 6:137,238,899...137,247,115
Ensembl chr 6:137,243,185...137,245,313
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:28254648 NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
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:26257172 NCBI chr 7:140,270,678...140,291,722
Ensembl chr 7:140,270,692...140,291,620
JBrowse link
G Tex49 testis expressed 49 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar PMID:24319099 NCBI chr 7:140,248,852...140,270,340
Ensembl chr 7:140,248,852...140,270,340
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:26004201, PMID:26752647 NCBI chr 1:8,593,342...8,751,540
Ensembl chr 1:8,593,075...8,751,198
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                Arthrogryposis 96
                  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

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