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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:Myoectodermal Gonadal Dysgenesis Syndrome
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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: AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS;   Agonadism mental retardation delayed bone age;   BKGK;   Brosnan-Kennerknecht-Guran-Koc Syndrome;   GDRM;   Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy;   Gonadal Dysgenesis, XY Type, with Associated Anomalies;   Kennerknecht Vogel Syndrome;   MEGD
 primary_id: OMIM:618419
 alt_id: DOID:9004145;   DOID:9007683;   MESH:C537019;   MESH:C565536


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Myoectodermal Gonadal Dysgenesis Syndrome 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: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy OMIM
ClinVar		 PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 More... NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME ClinVar PMID:25741868 NCBI chr14:15,871,707...16,027,634
Ensembl chr14:34,056,620...34,209,657 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Myoectodermal Gonadal Dysgenesis Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              retinal disease 1175
                retinal degeneration 821
                  fundus dystrophy 690
                    Myoectodermal Gonadal Dysgenesis Syndrome 2
paths to the root