{
  "id": 17945,
  "label": "mevalonate kinase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017708",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 18150,
      "label": "hereditary periodic fever syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16077,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021453",
          "MEDGEN:199651",
          "MESH:D056660",
          "Orphanet:324924",
          "UMLS:C0751422"
        ],
        "synonyms": [
          "hereditary periodic fever syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 12,
      "reference_id": "MONDO:0017953"
    },
    {
      "id": 19104,
      "label": "sterol biosynthesis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19117
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018969",
          "MEDGEN:1843040",
          "Orphanet:79195",
          "UMLS:C5681287"
        ],
        "synonyms": [
          "inborn error of sterol biosynthetic process",
          "inborn sterol biosynthetic process disorder",
          "rare inborn error of sterol biosynthetic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process."
      },
      "child_count": 14,
      "reference_id": "MONDO:0019240"
    }
  ],
  "children": [
    {
      "id": 11052,
      "label": "hyperimmunoglobulinemia D with periodic fever",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6778,
        17945
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081450",
          "GARD:0002788",
          "MEDGEN:140768",
          "NANDO:1200866",
          "NANDO:2200436",
          "OMIM:260920",
          "Orphanet:343",
          "UMLS:C0398691"
        ],
        "synonyms": [
          "HIDS",
          "hyper-IgD syndrome",
          "hyperimmunoglobinemia D with recurrent fever",
          "hyperimmunoglobulinemia D syndrome",
          "partial mevalonate kinase deficiency",
          "hyper IgD syndrome",
          "hyperimmunoglobulinemia D and periodic fever syndrome",
          "periodic fever Dutch type",
          "periodic fever, Dutch type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009849"
    },
    {
      "id": 13530,
      "label": "mevalonic aciduria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        17945
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012481"
    }
  ],
  "roots": [
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 18150,
      "label": "hereditary periodic fever syndrome"
    },
    {
      "id": 19104,
      "label": "sterol biosynthesis disorder"
    }
  ]
}