{
  "id": 11490,
  "label": "retinitis pigmentosa 23",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010320",
  "properties": {
    "xrefs": [
      "DOID:0110412",
      "GARD:0010391",
      "MEDGEN:238456",
      "OMIM:300424",
      "UMLS:C1419610"
    ],
    "synonyms": [
      "OFD1 retinitis pigmentosa",
      "RP23",
      "retinitis pigmentosa 23",
      "retinitis pigmentosa 23, X-linked recessive",
      "retinitis pigmentosa caused by mutation in OFD1",
      "retinitis pigmentosa type 23",
      "RP 23"
    ],
    "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 retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19070,
      "label": "retinitis pigmentosa",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10584",
          "GARD:0005694",
          "MEDGEN:20551",
          "MESH:D012174",
          "MedDRA:10038914",
          "NANDO:1200431",
          "NCIT:C85045",
          "NORD:1661",
          "OMIM:268000",
          "OMIMPS:268000",
          "Orphanet:791",
          "SCTID:28835009",
          "UMLS:C0035334"
        ],
        "synonyms": [
          "retinitis pigmentosa",
          "pericentral pigmentary retinopathy",
          "Rod-cone 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": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades."
      },
      "child_count": 101,
      "reference_id": "MONDO:0019200"
    },
    {
      "id": 20852,
      "label": "retinal ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        7000,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019987",
          "MEDGEN:1843204",
          "Orphanet:156165",
          "UMLS:C5680651"
        ],
        "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": 27,
      "reference_id": "MONDO:0022410"
    },
    {
      "id": 29269,
      "label": "OFD1-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028143"
        ],
        "synonyms": [
          "OFD1-related ciliopathy"
        ],
        "definition": "Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia."
      },
      "child_count": 3,
      "reference_id": "MONDO:1040039"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19070,
      "label": "retinitis pigmentosa"
    },
    {
      "id": 20852,
      "label": "retinal ciliopathy"
    },
    {
      "id": 29269,
      "label": "OFD1-related ciliopathy"
    }
  ]
}