{
  "id": 13097,
  "label": "microcephaly 6, primary, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012029",
  "properties": {
    "xrefs": [
      "DOID:0070290",
      "GARD:0015431",
      "MEDGEN:330770",
      "MESH:C564247",
      "OMIM:608393",
      "UMLS:C1842109"
    ],
    "synonyms": [
      "CENPJ autosomal recessive primary microcephaly",
      "autosomal recessive primary microcephaly caused by mutation in CENPJ",
      "microcephaly 6, primary, autosomal recessive",
      "MCPH6"
    ],
    "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 CENPJ gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24450,
      "label": "microcephaly 6 with or without short stature",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026336"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700054"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24450,
      "label": "microcephaly 6 with or without short stature"
    }
  ]
}