{
  "id": 13010,
  "label": "microphthalmia with brain and digit anomalies",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011936",
  "properties": {
    "xrefs": [
      "DOID:0111805",
      "GARD:0003645",
      "MEDGEN:355268",
      "MESH:C566440",
      "OMIM:607932",
      "Orphanet:139471",
      "SCTID:721878003",
      "UMLS:C1864689"
    ],
    "synonyms": [
      "Bakrania-Ragge syndrome",
      "MCOPS6",
      "microphthalmia with brain and digit anomalies",
      "microphthalmia, syndromic type 6",
      "syndromic microphthalmia type 6",
      "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia",
      "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia",
      "microphthalmia and pituitary anomalies",
      "microphthalmia syndromic 6",
      "microphthalmia with brain and digit developmental anomalies",
      "microphthalmia, syndromic 6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080636",
          "GARD:0020342",
          "MEDGEN:1826052",
          "OMIMPS:309800",
          "Orphanet:202948",
          "UMLS:C5679782"
        ],
        "synonyms": [
          "microphthalmia, syndromic",
          "syndrome associated with microphthalmia",
          "syndromic microphthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that is part of a larger syndrome."
      },
      "child_count": 57,
      "reference_id": "MONDO:0016073"
    },
    {
      "id": 24335,
      "label": "BMP4-related ocular growth disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        24305
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any ocular growth disorder in which the cause of the disease is a mutation in the BMP4 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100613"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia"
    },
    {
      "id": 24335,
      "label": "BMP4-related ocular growth disorder"
    }
  ]
}