{
  "id": 24180,
  "label": "GUCY2D-related recessive retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100453",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 24181,
      "label": "GUCY2D retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100454"
    }
  ],
  "children": [
    {
      "id": 10036,
      "label": "Leber congenital amaurosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        24180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110078",
          "GARD:0000635",
          "MEDGEN:419026",
          "OMIM:204000",
          "UMLS:C2931258"
        ],
        "synonyms": [
          "GUCY2D Leber congenital amaurosis",
          "LCA1",
          "Leber congenital amaurosis 1",
          "Leber congenital amaurosis caused by mutation in GUCY2D",
          "Leber congenital amaurosis type 1",
          "CRB",
          "LCA",
          "amaurosis congenita of Leber 1",
          "amaurosis congenita of Leber, type 1",
          "retinal blindness, congenital"
        ],
        "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 Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008764"
    },
    {
      "id": 22468,
      "label": "night blindness, congenital stationary, type1i",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16849,
        24180
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016364",
          "MEDGEN:1684817",
          "OMIM:618555",
          "UMLS:C5231408"
        ],
        "synonyms": [
          "CSNB1I",
          "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I",
          "night blindness, congenital stationary, type 1I"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032811"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 24181,
      "label": "GUCY2D retinopathy"
    }
  ]
}