{
  "id": 24181,
  "label": "GUCY2D retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100454",
  "properties": {
    "xrefs": [
      "GARD:0026228"
    ],
    "synonyms": [
      "retinopathy caused by mutation in GUCY2D"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    }
  ],
  "children": [
    {
      "id": 12265,
      "label": "cone-rod dystrophy 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111011",
          "GARD:0010656",
          "MEDGEN:400963",
          "MESH:C538363",
          "OMIM:601777",
          "UMLS:C1866293"
        ],
        "synonyms": [
          "CORD6",
          "GUCY2D cone-rod dystrophy",
          "RCD2",
          "cone-rod dystrophy 6",
          "cone-rod dystrophy caused by mutation in GUCY2D",
          "cone-rod dystrophy type 6",
          "retinal cone dystrophy 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011143"
    },
    {
      "id": 24168,
      "label": "GUCY2D-related dominant retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        24181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026216"
        ],
        "synonyms": [
          "dominant GUCY2D retinopathy",
          "CACD1",
          "CORD6",
          "GUCY2D central areolar choroidal dystrophy",
          "GUCY2D cone-rod dystrophy",
          "RCD2",
          "central areolar choroidal dystrophy caused by mutation in GUCY2D",
          "choroidal dystrophy, central areolar",
          "choroidal dystrophy, central areolar, 1",
          "choroidal sclerosis",
          "cone-rod dystrophy 6",
          "cone-rod dystrophy caused by mutation in GUCY2D",
          "cone-rod dystrophy type 6",
          "retinal cone dystrophy 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100441"
    },
    {
      "id": 24180,
      "label": "GUCY2D-related recessive retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        24181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026227"
        ],
        "synonyms": [
          "recessive GUCY2D retinopathy",
          "CORD6",
          "CRB",
          "GUCY2D Leber congenital amaurosis",
          "GUCY2D cone-rod dystrophy",
          "LCA",
          "LCA1",
          "Leber congenital amaurosis 1",
          "Leber congenital amaurosis caused by mutation in GUCY2D",
          "Leber congenital amaurosis type 1",
          "RCD2",
          "amaurosis congenita of Leber 1",
          "amaurosis congenita of Leber I",
          "amaurosis congenita of Leber, type 1",
          "cone-rod dystrophy 6",
          "cone-rod dystrophy caused by mutation in GUCY2D",
          "cone-rod dystrophy type 6",
          "night blindness, congenital stationary, type 1I",
          "retinal blindness, congenital",
          "retinal cone dystrophy 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A retinopathy caused by biallelic variants in the GUCY2D gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100453"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}