{
  "id": 24748,
  "label": "CDHR1-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700375",
  "properties": {
    "xrefs": [
      "GARD:0028030"
    ],
    "synonyms": [
      "CDHR1-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 CDHR1 gene, including cases diagnosed as cone-rod dystrophy 15, retinal macular dystrophy, or retinitis pigmentosa 65."
  },
  "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": 14381,
      "label": "cone-rod dystrophy 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        19070,
        24748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111021",
          "GARD:0015686",
          "MEDGEN:462262",
          "OMIM:613660",
          "UMLS:C3150912"
        ],
        "synonyms": [
          "CDHR1 cone-rod dystrophy",
          "CORD15",
          "cone-rod dystrophy 15",
          "cone-rod dystrophy caused by mutation in CDHR1",
          "cone-rod dystrophy type 15",
          "retinitis pigmentosa 65"
        ],
        "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 CDHR1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013348"
    },
    {
      "id": 24754,
      "label": "macular dystrophy, retinal, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22223,
        24748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028036",
          "MEDGEN:1840630",
          "UMLS:C5829994"
        ],
        "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:0700381"
    },
    {
      "id": 24944,
      "label": "retinitis pigmentosa 65",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        24748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026517",
          "MEDGEN:765766",
          "UMLS:C3552852"
        ],
        "synonyms": [
          "RP65"
        ],
        "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:0800352"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}