{
  "id": 12874,
  "label": "Amish lethal microcephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011790",
  "properties": {
    "xrefs": [
      "GARD:0008606",
      "MEDGEN:375938",
      "MESH:C538247",
      "OMIM:607196",
      "Orphanet:99742",
      "SCTID:702437000",
      "UMLS:C1846648"
    ],
    "synonyms": [
      "Amish lethal microcephaly",
      "MCPHA",
      "microcephaly, Amish type",
      "thiamine metabolism dysfunction syndrome 3 (microcephaly type)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2745,
      "label": "thiamine-responsive dysfunction syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17859
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022716",
          "OMIMPS:249270"
        ],
        "synonyms": [
          "thiamine-responsive dysfunction syndrome"
        ],
        "definition": "A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance."
      },
      "child_count": 5,
      "reference_id": "MONDO:0000152"
    },
    {
      "id": 3394,
      "label": "microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10907",
          "HP:0000252",
          "ICD10CM:Q02",
          "ICD10WHO:Q02",
          "ICD9:742.1",
          "MEDGEN:1644158",
          "MESH:D008831",
          "NCIT:C85874",
          "SCTID:1829003",
          "UMLS:C4551563",
          "icd11.foundation:179350437"
        ],
        "synonyms": [
          "microcephalus",
          "microcephaly",
          "microcephaly (disease)",
          "microencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex."
      },
      "child_count": 20,
      "reference_id": "MONDO:0001149"
    },
    {
      "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": 2745,
      "label": "thiamine-responsive dysfunction syndrome"
    },
    {
      "id": 3394,
      "label": "microcephaly"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}