{
  "id": 14066,
  "label": "adenosine monophosphate deaminase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013028",
  "properties": {
    "xrefs": [
      "GARD:0000547",
      "ICD10CM:E79.2",
      "ICD9:277.2",
      "MEDGEN:444140",
      "MESH:C538234",
      "Orphanet:45",
      "SCTID:9105005",
      "UMLS:C2931781",
      "icd11.foundation:550341491"
    ],
    "synonyms": [
      "AMP deaminase deficiency",
      "myoadenylate deaminase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    },
    {
      "id": 19100,
      "label": "inborn disorder of purine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19115,
        22982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018965",
          "MedDRA:10061476",
          "Orphanet:79191",
          "icd11.foundation:1958565793"
        ],
        "synonyms": [
          "inborn error of purine nucleobase metabolic process",
          "inborn purine nucleobase metabolic process disorder",
          "rare inborn error of purine nucleobase metabolic process",
          "disorder of purine metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process."
      },
      "child_count": 32,
      "reference_id": "MONDO:0019236"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 19100,
      "label": "inborn disorder of purine metabolism"
    }
  ]
}