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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:25741868 PMID:32403198 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    sensory system disease 5700
      auditory system disease 921
        inner ear disease 655
          sensorineural hearing loss 614
            MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Urogenital Diseases 4422
        Female Urogenital Diseases and Pregnancy Complications 2093
          Female Urogenital Diseases 1785
            female reproductive system disease 1781
              Adnexal Diseases 808
                ovarian disease 799
                  PRIMARY OVARIAN FAILURE 145
                    primary ovarian insufficiency 138
                      MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME 1
paths to the root