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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:GARG-MISHRA PROGEROID SYNDROME
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Accession:DOID:9006943 term browser browse the term
Definition:This disease is characterized by severe dwarfism, mandibular hypoplasia, microphthalmia, hyperopia, and partial lipodystrophy.
Synonyms:exact_synonym: GMPGS
 primary_id: OMIM:620601


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GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOMM7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome ClinVar
OMIM		 PMID:36282599 PMID:36299998 NCBI chr14:36,523,707...36,532,180
Ensembl chr14:36,523,707...36,532,291 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6598
      eye disease 3369
        microphthalmia 208
          GARG-MISHRA PROGEROID SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12025
      Signs and Symptoms 9902
        Neurologic Manifestations 9577
          sensory system disease 6598
            skin disease 3758
              Metabolic Skin Diseases 198
                lipodystrophy 198
                  partial lipodystrophy 13
                    GARG-MISHRA PROGEROID SYNDROME 1
paths to the root