{
  "id": 24335,
  "label": "BMP4-related ocular growth disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100613",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 24305,
      "label": "ocular growth disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An eye disorder characterized by an aberrant development of the eye resulting in significant shortening or elongation, and therefore affecting the final ocular dimensions."
      },
      "child_count": 7,
      "reference_id": "MONDO:0100581"
    }
  ],
  "children": [
    {
      "id": 13010,
      "label": "microphthalmia with brain and digit anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16704,
        24335
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011936"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 24305,
      "label": "ocular growth disorder"
    }
  ]
}