{
  "id": 24991,
  "label": "TRPM1-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800402",
  "properties": {
    "xrefs": [
      "GARD:0026552"
    ],
    "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 inherited retinopathy caused by bi-allelic variants in the TRPM1 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": 14219,
      "label": "congenital stationary night blindness 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16849,
        24991
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110867",
          "GARD:0015631",
          "MEDGEN:416373",
          "MESH:C567704",
          "OMIM:613216",
          "UMLS:C2750747"
        ],
        "synonyms": [
          "CSNB1C",
          "TRPM1 congenital stationary night blindness",
          "congenital stationary night blindness 1C",
          "congenital stationary night blindness caused by mutation in TRPM1",
          "congenital stationary night blindness type 1C",
          "night blindness, congenital stationary (complete), 1C, autosomal recessive",
          "CSNB, complete, autosomal recessive",
          "night blindness, congenital stationary, type 1C"
        ],
        "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 TRPM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013183"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}