{
  "id": 15854,
  "label": "congenital stationary night blindness 1H",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014872",
  "properties": {
    "xrefs": [
      "DOID:0110866",
      "GARD:0016177",
      "MEDGEN:934725",
      "OMIM:617024",
      "UMLS:C4310758"
    ],
    "synonyms": [
      "CSNB1H",
      "GNB3 congenital stationary night blindness",
      "congenital stationary night blindness caused by mutation in GNB3",
      "congenital stationary night blindness type 1H",
      "night blindness, congenital stationary, type 1H"
    ],
    "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 GNB3 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16849,
      "label": "congenital stationary night blindness"
    }
  ]
}