{
  "id": 15888,
  "label": "microcephaly 17, primary, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014908",
  "properties": {
    "xrefs": [
      "DOID:0070288",
      "GARD:0016186",
      "MEDGEN:934690",
      "OMIM:617090",
      "UMLS:C4310723"
    ],
    "synonyms": [
      "CIT autosomal recessive primary microcephaly",
      "MCPH17",
      "autosomal recessive primary microcephaly caused by mutation in CIT",
      "autosomal recessive primary microcephaly caused by mutation in cit",
      "cit autosomal recessive primary microcephaly",
      "microcephaly 17, primary, autosomal recessive",
      "microcephaly 17, primary, autosomal recessive; MCPH17"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17129,
      "label": "autosomal recessive primary microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16689,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070296",
          "GARD:0012117",
          "MEDGEN:777995",
          "MESH:C579935",
          "OMIMPS:251200",
          "Orphanet:2512",
          "SCTID:715981004",
          "UMLS:C3711387"
        ],
        "synonyms": [
          "true microcephaly",
          "MCPH",
          "microcephalia vera",
          "microcephaly vera",
          "microcephaly, primary autosomal recessive",
          "microcephaly, primary, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment."
      },
      "child_count": 87,
      "reference_id": "MONDO:0016660"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17129,
      "label": "autosomal recessive primary microcephaly"
    }
  ]
}