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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma JBrowse link 6 76,056,585 76,079,755 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      musculoskeletal system disease 4321
        muscular disease 1001
          myopathy 558
            Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        sensory system disease 4593
          eye and adnexa disease 2149
            eye disease 2149
              eye degenerative disease 410
                retinal degeneration 408
                  fundus dystrophy 268
                    Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.