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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:hypermethioninemia due to adenosine kinase deficiency
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Accession:DOID:0111038 term browser browse the term
Definition:A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: ADK hypermethioninemia;   ADK-RELATED CONDITION;   MRT8;   autosomal recessive mental retardation 8;   hypermethioninemia encephalopathy due to ADK deficiency;   hypermethioninemia encephalopathy due to adenosine kinase deficiency
 primary_id: MIM:614300
 alt_id: MESH:C567015
 xref: ICD10CM:E72.1;   ORDO:289290


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hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 OMIM
ClinVar		 PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510 		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
          hypermethioninemia due to adenosine kinase deficiency 1
Path 2
Term Annotations click to browse term
  disease 19087
    Pathological Conditions, Signs and Symptoms 13530
      Signs and Symptoms 11085
        Neurologic Manifestations 10336
          sensory system disease 7249
            eye disease 3725
              visual pathway disease 342
                visual cortex disease 339
                  visual epilepsy 339
                    hypermethioninemia due to adenosine kinase deficiency 1
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