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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: OMIM: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 CTD Direct Evidence: marker/mechanism
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
CTD
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
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Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Neurodevelopmental Disorders 6821
        Developmental Disabilities 775
          hypermethioninemia due to adenosine kinase deficiency 1
Path 2
Term Annotations click to browse term
  disease 21155
    Pathological Conditions, Signs and Symptoms 13316
      Signs and Symptoms 10798
        Neurologic Manifestations 10029
          sensory system disease 6928
            eye disease 3459
              visual pathway disease 345
                visual cortex disease 342
                  visual epilepsy 342
                    hypermethioninemia due to adenosine kinase deficiency 1
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