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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:MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
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Accession:DOID:9006229 term browser browse the term
Definition:This disease is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency.
Synonyms:exact_synonym: MDHLO
 primary_id: OMIM:619518

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MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32403198 PMID:35869884 NCBI chr25:72,502,333...72,517,349 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    sensory system disease 6504
      Hearing Disorders 757
        Hearing Loss 751
          sensorineural hearing loss 569
            MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17472
    disease of anatomical entity 14859
      Urogenital Diseases 4648
        Female Urogenital Diseases and Pregnancy Complications 2292
          Female Urogenital Diseases 1886
            female reproductive system disease 1883
              Adnexal Diseases 871
                ovarian disease 862
                  Primary Ovarian Failure 164
                    primary ovarian insufficiency 153
                      MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
paths to the root