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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:Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy
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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.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        fundus dystrophy 339
          Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  myopathy 686
                    Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 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.