{
  "id": 23993,
  "label": "adenosine kinase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100255",
  "properties": {
    "xrefs": [
      "DOID:0111038",
      "GARD:0017321",
      "MEDGEN:1632232",
      "MESH:C567015",
      "OMIM:611094",
      "OMIM:614300",
      "Orphanet:289290",
      "UMLS:C4706555"
    ],
    "synonyms": [
      "ADK deficiency",
      "ADK hypermethioninemia",
      "MRT8",
      "adenosine kinase deficiency",
      "autosomal recessive intellectual disability 8",
      "hypermethioninemia due to adenosine kinase deficiency",
      "hypermethioninemia encephalopathy due to ADK deficiency",
      "hypermethioninemia encephalopathy due to adenosine kinase deficiency",
      "mental retardation, autosomal recessive 8",
      "mental retardation, autosomal recessive 8, formerly",
      "mental retardation, autosomal recessive 8; MRT8"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2861,
      "label": "disorder of methionine catabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510,
        19088,
        22989
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050544",
          "GARD:0022754",
          "HP:0003235",
          "MEDGEN:887708",
          "NANDO:2200475",
          "SCTID:43123004",
          "UMLS:C4048705"
        ],
        "synonyms": [
          "hypermethioninemia",
          "inborn error of methionine catabolic process",
          "inborn methionine catabolic process disorder",
          "rare inborn error of methionine catabolic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process."
      },
      "child_count": 9,
      "reference_id": "MONDO:0000351"
    },
    {
      "id": 19320,
      "label": "autosomal recessive non-syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2962,
        17944,
        24319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060308",
          "GARD:0018643",
          "MEDGEN:1826073",
          "OMIMPS:249500",
          "Orphanet:88616",
          "UMLS:C5680181"
        ],
        "synonyms": [
          "autosomal recessive intellectual disability",
          "intellectual disability, autosomal recessive",
          "AR-NSID",
          "NS-ARID",
          "autosomal recessive non-syndromic intellectual disability",
          "mental retardation, autosomal recessive",
          "non-syndromic intellectual disability, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of non-syndromic intellectual disability."
      },
      "child_count": 204,
      "reference_id": "MONDO:0019502"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2861,
      "label": "disorder of methionine catabolism"
    },
    {
      "id": 19320,
      "label": "autosomal recessive non-syndromic intellectual disability"
    }
  ]
}