{
  "id": 14663,
  "label": "Warburg micro syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013638",
  "properties": {
    "xrefs": [
      "DOID:0110718",
      "GARD:0015778",
      "MEDGEN:481833",
      "OMIM:614222",
      "UMLS:C3280203"
    ],
    "synonyms": [
      "RAB18 Warburg micro syndrome",
      "WARBM3",
      "Warburg micro syndrome 3",
      "Warburg micro syndrome caused by mutation in RAB18",
      "Warburg micro syndrome type 3",
      "micro syndrome 3",
      "WARBURG micro syndrome 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17118,
      "label": "Warburg micro syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16087,
        18774,
        24642
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060237",
          "GARD:0005534",
          "MEDGEN:1781286",
          "NORD:1898",
          "OMIMPS:600118",
          "Orphanet:2510",
          "UMLS:C5442005"
        ],
        "synonyms": [
          "WARBM",
          "Warburg micro syndrome",
          "micro syndrome",
          "microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism",
          "microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016649"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17118,
      "label": "Warburg micro syndrome"
    }
  ]
}