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ONTOLOGY REPORT - ANNOTATIONS


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;   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: RDO:9000460
 xref: ICD10CM:E72.1;   ORDO:289290
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hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adk adenosine kinase JBrowse link 15 3,033,535 3,435,888 RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Neurodevelopmental Disorders 4095
        Developmental Disabilities 373
          hypermethioninemia due to adenosine kinase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        sensory system disease 4596
          eye and adnexa disease 2148
            eye disease 2148
              visual pathway disease 533
                visual cortex disease 531
                  visual epilepsy 531
                    hypermethioninemia due to adenosine kinase deficiency 1
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