{
  "id": 10837,
  "label": "microcephaly 1, primary, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009617",
  "properties": {
    "xrefs": [
      "DOID:0070285",
      "GARD:0015198",
      "MEDGEN:344415",
      "MESH:C565384",
      "OMIM:251200",
      "Orphanet:52183",
      "UMLS:C1855081"
    ],
    "synonyms": [
      "MCPH1 autosomal recessive primary microcephaly",
      "autosomal recessive primary microcephaly caused by mutation in MCPH1",
      "microcephaly 1, primary, autosomal recessive",
      "MCPH1",
      "PCC syndrome",
      "premature chromosome condensation syndrome",
      "premature chromosome condensation with microcephaly and intellectual disability",
      "premature chromosome condensation with microcephaly and mental retardation"
    ],
    "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 MCPH1 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"
    },
    {
      "id": 23941,
      "label": "microcephaly with intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026081"
        ],
        "synonyms": [
          "microcephaly with neurodevelopmental phenotypes"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100200"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17129,
      "label": "autosomal recessive primary microcephaly"
    },
    {
      "id": 23941,
      "label": "microcephaly with intellectual disability"
    }
  ]
}