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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:COACH syndrome
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Accession:DOID:0111589 term browser browse the term
Definition:A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). (DO)
Synonyms:exact_synonym: Gentile syndrome;   JS-H;   Joubert syndrome with congenital hepatic fibrosis;   Joubert syndrome with hepatic defect;   cerebellar vermis hypo-aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis;   cerebellar vermis hypo-aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
 narrow_synonym: Joubert syndrome with ocular defect
 primary_id: MESH:C536430
 xref: GARD:1410;   ORDO:1454
For additional species annotation, visit the Alliance of Genome Resources.



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COACH syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 More... NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:21068128 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by OMIM:216360
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple
ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar
CTD
RGD
PMID:2929661 PMID:8862632 PMID:9536098 PMID:12368986 PMID:17160906 More... RGD:11535944, RGD:11535946 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: COACH SYNDROME 1 OMIM
ClinVar
PMID:17397051 PMID:18414213 PMID:19574260 PMID:20232449 PMID:21068128 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH SYNDROME 2 OMIM
ClinVar
PMID:18950740 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: COACH SYNDROME 3 OMIM
ClinVar
PMID:17558409 PMID:19574260 PMID:26092869 PMID:28492532 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      COACH syndrome 4
        COACH Syndrome 1 1
        COACH Syndrome 2 1
        COACH Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                Ataxia 510
                  COACH syndrome 4
                    COACH Syndrome 1 1
                    COACH Syndrome 2 1
                    COACH Syndrome 3 1
paths to the root