{
  "id": 17209,
  "label": "isolated anophthalmia-microphthalmia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016764",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    }
  ],
  "children": [
    {
      "id": 2755,
      "label": "microphthalmia, isolated, with coloboma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2713,
        3690,
        17209
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 36,
      "reference_id": "MONDO:0000170"
    },
    {
      "id": 7169,
      "label": "nanophthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        17209,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080634",
          "GARD:0016637",
          "MEDGEN:901455",
          "OMIMPS:600165",
          "Orphanet:35612",
          "SCTID:716775009",
          "UMLS:C4274282"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma."
      },
      "child_count": 12,
      "reference_id": "MONDO:0005514"
    },
    {
      "id": 9321,
      "label": "microphthalmia, isolated, with cataract 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009610",
          "MEDGEN:320475",
          "MESH:C563582",
          "OMIM:156850",
          "UMLS:C1834919"
        ],
        "synonyms": [
          "MCOPCT1",
          "microphthalmia, isolated, with cataract 1",
          "cataract, congenital, with microphthalmia",
          "congenital cataract with microphthalmia",
          "microphthalmia with cataract 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007995"
    },
    {
      "id": 13460,
      "label": "isolated microphthalmia 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060839",
          "GARD:0024863",
          "MEDGEN:351204",
          "MESH:C566446",
          "OMIM:610093",
          "UMLS:C1864720"
        ],
        "synonyms": [
          "MCOP2",
          "VSX2 isolated microphthalmia",
          "isolated microphthalmia caused by mutation in VSX2",
          "isolated microphthalmia type 2",
          "microphthalmia, isolated type 2",
          "anophthalmia, clinical, isolated",
          "microphthalmia, isolated 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0012409"
    },
    {
      "id": 13651,
      "label": "isolated microphthalmia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060842",
          "GARD:0024876",
          "MEDGEN:1823955",
          "MESH:C567025",
          "OMIM:611038",
          "UMLS:C5774181"
        ],
        "synonyms": [
          "MCOP3",
          "RAX isolated microphthalmia",
          "isolated microphthalmia 3",
          "isolated microphthalmia caused by mutation in RAX",
          "isolated microphthalmia caused by mutation in rax",
          "isolated microphthalmia type 3",
          "microphthalmia, isolated type 3",
          "rax isolated microphthalmia",
          "microphthalmia, isolated 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012604"
    },
    {
      "id": 14167,
      "label": "isolated microphthalmia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060836",
          "GARD:0024901",
          "MEDGEN:414346",
          "MESH:C567757",
          "OMIM:613094",
          "UMLS:C2751307"
        ],
        "synonyms": [
          "GDF6 isolated microphthalmia",
          "MCOP4",
          "isolated microphthalmia caused by mutation in GDF6",
          "isolated microphthalmia type 4",
          "microphthalmia, isolated type 4",
          "microphthalmia, isolated 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013130"
    },
    {
      "id": 14328,
      "label": "isolated microphthalmia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060835",
          "GARD:0018628",
          "MEDGEN:462107",
          "OMIM:613517",
          "UMLS:C3150757"
        ],
        "synonyms": [
          "MCOP6",
          "PRSS56 isolated microphthalmia",
          "PRSS56-related nanophthalmos",
          "isolated microphthalmia caused by mutation in PRSS56",
          "isolated microphthalmia type 6",
          "microphthalmia, isolated type 6",
          "microphthalmia, isolated 6",
          "microphthalmia, posterior nonsyndromic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. This disease includes cases diagnosed as microphthalmos (specifically as posterior microphthalmos) and nanophthalmos."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013293"
    },
    {
      "id": 14410,
      "label": "isolated microphthalmia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060838",
          "GARD:0024917",
          "MEDGEN:462319",
          "OMIM:613704",
          "UMLS:C3150969"
        ],
        "synonyms": [
          "GDF3 isolated microphthalmia",
          "MCOP7",
          "isolated microphthalmia caused by mutation in GDF3",
          "isolated microphthalmia type 7",
          "microphthalmia, isolated type 7",
          "microphthalmia, isolated 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013377"
    },
    {
      "id": 15060,
      "label": "isolated microphthalmia 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2713,
        17209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060841",
          "GARD:0024967",
          "MEDGEN:767438",
          "OMIM:615113",
          "UMLS:C3554524"
        ],
        "synonyms": [
          "ALDH1A3 isolated microphthalmia",
          "MCOP8",
          "isolated microphthalmia 8",
          "isolated microphthalmia caused by mutation in ALDH1A3",
          "isolated microphthalmia type 8",
          "microphthalmia, isolated type 8",
          "microphthalmia, isolated 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014050"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    }
  ]
}