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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:Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
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Accession:DOID:9002066 term browser browse the term
Definition:An autosomal recessive disorder characterized by global developmental delay and muscle weakness apparent in infancy. Caused by homozygous mutation in the GOLGA2 gene on chromosome 9q34.
Synonyms:exact_synonym: DEDHMB
 primary_id: MIM:620240


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Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:30237576 PMID:34424553 NCBI chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Neurodevelopmental Disorders 6902
        Developmental Disabilities 777
          Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        peripheral nervous system disease 4257
          neuropathy 4041
            neuromuscular disease 3183
              muscular disease 2206
                muscle tissue disease 1339
                  myopathy 1055
                    Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities 1
paths to the root