{
  "id": 22376,
  "label": "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0032705",
  "properties": {
    "xrefs": [
      "GARD:0018018",
      "MEDGEN:1684142",
      "OMIM:618367",
      "Orphanet:597874",
      "UMLS:C5193057"
    ],
    "synonyms": [
      "5,10-methenyltetrahydrofolate synthetase deficiency",
      "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome",
      "NEDMEHM",
      "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17632,
      "label": "disorder of folate metabolism and transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17984
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021131",
          "MEDGEN:1842423",
          "Orphanet:285657",
          "UMLS:C5681010",
          "icd11.foundation:2081529009"
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0017313"
    },
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17632,
      "label": "disorder of folate metabolism and transport"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}