{
  "id": 7169,
  "label": "nanophthalmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005514",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 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"
    },
    {
      "id": 20367,
      "label": "microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24305
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10629",
          "EFO:0005569",
          "HP:0000568",
          "ICD9:743.1",
          "ICD9:743.10",
          "ICD9:743.11",
          "MEDGEN:10033",
          "MESH:D008850",
          "NCIT:C98989",
          "SCTID:204108000",
          "UMLS:C0026010"
        ],
        "synonyms": [
          "microphthalmia",
          "microphthalmos",
          "nanophthalmos"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Congenital or developmental anomaly in which the eyeballs are abnormally small."
      },
      "child_count": 5,
      "reference_id": "MONDO:0021129"
    }
  ],
  "children": [
    {
      "id": 11972,
      "label": "nanophthalmos 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7169
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018625",
          "MEDGEN:325037",
          "MESH:C563983",
          "OMIM:600165",
          "UMLS:C1838502"
        ],
        "synonyms": [
          "NNO1",
          "nanophthalmos 1",
          "nanophthalmos-1",
          "Nanophthalmia 1",
          "microphthalmos, simple, autosomal dominant",
          "nanophthalmos with high hyperopia and angle-closure glaucoma",
          "nanophthalmos, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010836"
    },
    {
      "id": 13355,
      "label": "nanophthalmos 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7169
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018626",
          "MEDGEN:372177",
          "MESH:C563700",
          "OMIM:609549",
          "UMLS:C1836006"
        ],
        "synonyms": [
          "MFRP nanophthalmia",
          "nanophthalmia caused by mutation in MFRP",
          "nanophthalmos 2",
          "nanophthalmos type 2",
          "NNO2",
          "Nanophthalmia 2",
          "nanophthalmos, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012299"
    },
    {
      "id": 13794,
      "label": "nanophthalmos 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7169
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018627",
          "MEDGEN:395628",
          "MESH:C567498",
          "OMIM:611897",
          "UMLS:C2678467"
        ],
        "synonyms": [
          "NNO3",
          "nanophthalmos 3",
          "Nanophthalmia 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012754"
    },
    {
      "id": 15426,
      "label": "nanophthalmos 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7169
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018629",
          "MEDGEN:863285",
          "OMIM:615972",
          "UMLS:C4014848"
        ],
        "synonyms": [
          "TMEM98 nanophthalmia",
          "nanophthalmia caused by mutation in TMEM98",
          "nanophthalmos 4",
          "nanophthalmos type 4",
          "NNO4",
          "Nanophthalmia 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014426"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 17209,
      "label": "isolated anophthalmia-microphthalmia syndrome"
    },
    {
      "id": 20367,
      "label": "microphthalmia"
    }
  ]
}