Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy
go back to main search page
Accession:DOID:9002447 term browser browse the term
Definition:GDRM is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, including low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. GDRM is caused by homozygous mutation in the PPP2R3C gene on chromosome 14q13. (OMIM)
Synonyms:exact_synonym: GDRM
 primary_id: OMIM:618419
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY ClinVar
OMIM
PMID:30893644 NCBI chr 6:76,056,585...76,079,755
Ensembl chr 6:76,056,499...76,079,664
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    sensory system disease 5201
      eye disease 2608
        fundus dystrophy 337
          Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        peripheral nervous system disease 2432
          neuropathy 2246
            neuromuscular disease 1764
              muscular disease 1167
                muscle tissue disease 791
                  myopathy 644
                    Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
paths to the root