{
  "id": 24753,
  "label": "RHO-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700380",
  "properties": {
    "xrefs": [
      "GARD:0028035"
    ],
    "synonyms": [
      "RHO-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 a variant in the RHO gene, including cases diagnosed as congenital stationary night blindness autosomal dominant 1 or retinitis pigmentosa 4."
  },
  "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": 13547,
      "label": "congenital stationary night blindness autosomal dominant 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16849,
        24753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110862",
          "GARD:0015488",
          "MEDGEN:355852",
          "MESH:C566474",
          "OMIM:610445",
          "UMLS:C1864869"
        ],
        "synonyms": [
          "CSNBAD1",
          "RHO congenital stationary night blindness",
          "congenital stationary night blindness autosomal dominant type 1",
          "congenital stationary night blindness caused by mutation in RHO",
          "night blindness, congenital stationary, autosomal dominant type 1",
          "night blindness, congenital stationary, autosomal dominant 1",
          "night blindness, congenital stationary, rhodopsin-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 congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012498"
    },
    {
      "id": 14428,
      "label": "retinitis pigmentosa 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        24753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110372",
          "GARD:0010405",
          "HGNC:10012",
          "MEDGEN:462351",
          "MESH:C566706",
          "OMIM:613731",
          "UMLS:C3151001"
        ],
        "synonyms": [
          "RHO retinitis pigmentosa",
          "RP4",
          "retinitis pigmentosa 4",
          "retinitis pigmentosa 4, autosomal dominant or recessive",
          "retinitis pigmentosa caused by mutation in RHO",
          "retinitis pigmentosa type 4",
          "RP 4",
          "retinitis pigmentosa, rhodopsin-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 retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013395"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}