{
  "id": 14219,
  "label": "congenital stationary night blindness 1C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013183",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16849,
      "label": "congenital stationary night blindness",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6383,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050534",
          "DOID:8498",
          "GARD:0025068",
          "ICD9:368.61",
          "MEDGEN:83289",
          "MESH:C536122",
          "OMIMPS:310500",
          "Orphanet:215",
          "SCTID:193687000",
          "SCTID:232061009",
          "UMLS:C0339535",
          "icd11.foundation:122338861",
          "icd11.foundation:587494652"
        ],
        "synonyms": [
          "Oguchi's disease",
          "congenital essential nyctalopia",
          "congenital night blindness",
          "hereditary night blindness",
          "night blindness, congenital stationary"
        ],
        "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": 28,
      "reference_id": "MONDO:0016293"
    },
    {
      "id": 24991,
      "label": "TRPM1-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0800402"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16849,
      "label": "congenital stationary night blindness"
    },
    {
      "id": 24991,
      "label": "TRPM1-related retinopathy"
    }
  ]
}