{
  "id": 2755,
  "label": "microphthalmia, isolated, with coloboma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000170",
  "properties": {
    "xrefs": [
      "GARD:0003644",
      "MEDGEN:444071",
      "MESH:C537463",
      "OMIMPS:300345",
      "Orphanet:98938",
      "UMLS:C2931500",
      "icd11.foundation:1208828500"
    ],
    "synonyms": [
      "MAC",
      "colobomatous microphthalmia",
      "microphthalmia with colobomatous cyst",
      "microphthalmia-anophthalmia-coloboma syndrome",
      "MCOPCB1",
      "microphthalmia associated with colobomatous cyst",
      "microphthalmos bilateral, colobomatous orbital cyst"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 2713,
      "label": "isolated microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080637",
          "OMIMPS:251600"
        ],
        "synonyms": [
          "microphthalmia, isolated",
          "nonsyndromic microphthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that is not part of a larger syndrome."
      },
      "child_count": 20,
      "reference_id": "MONDO:0000062"
    },
    {
      "id": 3690,
      "label": "coloboma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12270",
          "ICD9:743.49",
          "MEDGEN:1046",
          "MESH:D003103",
          "NCIT:C98877",
          "Orphanet:194",
          "SCTID:93390002",
          "UMLS:C0009363"
        ],
        "synonyms": [
          "coloboma of the eye",
          "ocular coloboma",
          "coloboma of macula",
          "congenital ocular coloboma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An abnormality in which a part of a structure in one or both eyes is missing."
      },
      "child_count": 8,
      "reference_id": "MONDO:0001476"
    },
    {
      "id": 17209,
      "label": "isolated anophthalmia-microphthalmia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012085",
          "MEDGEN:1826144",
          "Orphanet:2542",
          "UMLS:C5679828"
        ],
        "synonyms": [
          "MAC spectrum",
          "microphthalmia-anophthalmia-coloboma spectrum",
          "nonsyndromic anophthalmia-microphthalmia syndrome",
          "clinical anophthalmia",
          "isolated anophthalmia - microphthalmia",
          "isolated pure microphthalmia",
          "primitive anophthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit."
      },
      "child_count": 9,
      "reference_id": "MONDO:0016764"
    }
  ],
  "children": [
    {
      "id": 10849,
      "label": "microphthalmia, isolated, with coloboma 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015200",
          "MEDGEN:344410",
          "MESH:C565378",
          "OMIM:251505",
          "SCTID:715771008",
          "UMLS:C1855053"
        ],
        "synonyms": [
          "microphthalmia, isolated, with coloboma 4",
          "microphthalmia, isolated, with coloboma type 4",
          "MCOPCB4",
          "microphthalmia with colobomatous cyst"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009630"
    },
    {
      "id": 12685,
      "label": "microphthalmia with coloboma 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015385",
          "MEDGEN:343030",
          "MESH:C565300",
          "OMIM:605738",
          "UMLS:C1854018"
        ],
        "synonyms": [
          "MCOPCB2",
          "microphthalmia, colobomatous, isolated 2",
          "microphthalmia, isolated, with coloboma 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011589"
    },
    {
      "id": 13459,
      "label": "microphthalmia, isolated, with coloboma 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755,
        13460
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015471",
          "MEDGEN:400598",
          "MESH:C566447",
          "OMIM:610092",
          "UMLS:C1864721"
        ],
        "synonyms": [
          "VSX2 microphthalmia, isolated, with coloboma",
          "microphthalmia with coloboma 3",
          "microphthalmia, isolated, with coloboma 3",
          "microphthalmia, isolated, with coloboma caused by mutation in VSX2",
          "microphthalmia, isolated, with coloboma type 3",
          "MCOPCB3",
          "microphthalmia, cataracts, and iris abnormalities",
          "microphthalmia, colobomatous, isolated 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012408"
    },
    {
      "id": 13749,
      "label": "microphthalmia, isolated, with coloboma 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015524",
          "MEDGEN:369356",
          "MESH:C566899",
          "OMIM:611638",
          "UMLS:C1968843"
        ],
        "synonyms": [
          "SHH microphthalmia, isolated, with coloboma",
          "Shh microphthalmia, isolated, with coloboma",
          "microphthalmia with coloboma 5",
          "microphthalmia, isolated, with coloboma 5",
          "microphthalmia, isolated, with coloboma caused by mutation in SHH",
          "microphthalmia, isolated, with coloboma caused by mutation in Shh",
          "microphthalmia, isolated, with coloboma type 5",
          "MCOPCB5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012709"
    },
    {
      "id": 14409,
      "label": "microphthalmia, isolated, with coloboma 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015692",
          "MEDGEN:462318",
          "OMIM:613703",
          "UMLS:C3150968"
        ],
        "synonyms": [
          "microphthalmia with coloboma 6",
          "microphthalmia with coloboma 6, digenic",
          "microphthalmia, isolated, with coloboma 6",
          "microphthalmia, isolated, with coloboma type 6",
          "MCOPCB6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013376"
    },
    {
      "id": 14801,
      "label": "microphthalmia, isolated, with coloboma 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015811",
          "MEDGEN:482657",
          "OMIM:614497",
          "UMLS:C3281027"
        ],
        "synonyms": [
          "ABCB6 microphthalmia, isolated, with coloboma",
          "microphthalmia, isolated, with coloboma 7",
          "microphthalmia, isolated, with coloboma caused by mutation in ABCB6",
          "microphthalmia, isolated, with coloboma type 7",
          "MCOPCB7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013783"
    },
    {
      "id": 15068,
      "label": "microphthalmia, isolated, with coloboma 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015909",
          "MEDGEN:767506",
          "OMIM:615145",
          "UMLS:C3554592"
        ],
        "synonyms": [
          "TENM3 microphthalmia, isolated, with coloboma",
          "microphthalmia, isolated, with coloboma 9",
          "microphthalmia, isolated, with coloboma caused by mutation in TENM3",
          "microphthalmia, isolated, with coloboma type 9",
          "microphthalmia, syndromic 15",
          "MCOPCB9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014059"
    },
    {
      "id": 15631,
      "label": "microphthalmia, isolated, with coloboma 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016110",
          "MEDGEN:909133",
          "OMIM:616428",
          "UMLS:C4225330"
        ],
        "synonyms": [
          "RBP4 microphthalmia, isolated, with coloboma",
          "microphthalmia, isolated, with coloboma 10",
          "microphthalmia, isolated, with coloboma caused by mutation in RBP4",
          "microphthalmia, isolated, with coloboma type 10",
          "MCOPCB10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014635"
    },
    {
      "id": 21494,
      "label": "microphthalmia with coloboma 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025426",
          "MEDGEN:337338",
          "OMIM:300345",
          "UMLS:C1845877"
        ],
        "synonyms": [
          "MCOPCB1",
          "microphthalmia, colobomatous, isolated 1",
          "microphthalmia, isolated, with coloboma 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024549"
    },
    {
      "id": 24925,
      "label": "microphthalmia, isolated, with coloboma 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026502",
          "MEDGEN:761921",
          "UMLS:C3540845"
        ],
        "synonyms": [
          "MCOPCB8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800324"
    },
    {
      "id": 25893,
      "label": "microphthalmia/coloboma 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026984",
          "MEDGEN:1856733",
          "OMIM:620731",
          "UMLS:C5935584"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958239"
    },
    {
      "id": 26115,
      "label": "microphthalmia/coloboma 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027322",
          "MEDGEN:1874966",
          "OMIM:620968",
          "UMLS:C5975436"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975809"
    }
  ],
  "roots": [
    {
      "id": 2713,
      "label": "isolated microphthalmia"
    },
    {
      "id": 3690,
      "label": "coloboma"
    },
    {
      "id": 17209,
      "label": "isolated anophthalmia-microphthalmia syndrome"
    }
  ]
}