{
  "id": 29292,
  "label": "SPATA7-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1040070",
  "properties": {
    "xrefs": [
      "GARD:0028149"
    ],
    "synonyms": [
      "SPATA7-related retinopathy"
    ],
    "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 retinopathy caused by variants in the SPATA7 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 12520,
      "label": "Leber congenital amaurosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18914,
        29292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110331",
          "GARD:0009661",
          "MEDGEN:346964",
          "MESH:C565814",
          "OMIM:604232",
          "UMLS:C1858677"
        ],
        "synonyms": [
          "LCA3",
          "Leber congenital amaurosis 3",
          "Leber congenital amaurosis caused by mutation in SPATA7",
          "Leber congenital amaurosis type 3",
          "SPATA7 Leber congenital amaurosis",
          "retinitis pigmentosa, juvenile, autosomal recessive",
          "amaurosis congenita of Leber, type 3",
          "retinitis pigmentosa, juvenile, Spata7-related"
        ],
        "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 SPATA7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011415"
    },
    {
      "id": 24927,
      "label": "retinitis pigmentosa 94, variable age at onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        29292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026504",
          "MEDGEN:1805655",
          "UMLS:C5676889"
        ],
        "synonyms": [
          "RP94"
        ],
        "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:0800328"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}