{
  "id": 13530,
  "label": "mevalonic aciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012481",
  "properties": {
    "xrefs": [
      "DOID:0050452",
      "GARD:0003588",
      "MEDGEN:368373",
      "MedDRA:10072219",
      "NANDO:1200866",
      "NCIT:C84890",
      "OMIM:610377",
      "Orphanet:29",
      "SCTID:718558008",
      "UMLS:C1959626",
      "icd11.foundation:572875152"
    ],
    "synonyms": [
      "HIDS",
      "MKD",
      "MVA",
      "complete mevalonate kinase deficiency",
      "hyperimmunoglobulin D with periodic fever syndrome",
      "mevalonic aciduria",
      "MEVA",
      "Mevalonicaciduria"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 17945,
      "label": "mevalonate kinase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16607,
        18150,
        19104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021315",
          "MEDGEN:87453",
          "MESH:D054078",
          "MedDRA:10072221",
          "NANDO:2200436",
          "NORD:1260",
          "Orphanet:309025",
          "UMLS:C0342731",
          "icd11.foundation:772056052"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0017708"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 17945,
      "label": "mevalonate kinase deficiency"
    }
  ]
}