{
  "id": 24175,
  "label": "RAB28-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100448",
  "properties": {
    "xrefs": [
      "GARD:0026223"
    ],
    "synonyms": [
      "RAB28 retinopathy",
      "CORD18",
      "RAB28 cone-rod dystrophy",
      "cone-rod dystrophy 18",
      "cone-rod dystrophy caused by mutation in RAB28",
      "cone-rod dystrophy type 18"
    ],
    "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 RAB28 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 15160,
      "label": "cone-rod dystrophy 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24175
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111024",
          "GARD:0015953",
          "MEDGEN:815629",
          "OMIM:615374",
          "UMLS:C3809299"
        ],
        "synonyms": [
          "CORD18",
          "RAB28 cone-rod dystrophy",
          "cone-rod dystrophy 18",
          "cone-rod dystrophy caused by mutation in RAB28",
          "cone-rod dystrophy type 18"
        ],
        "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 RAB28 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014153"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}