{
  "id": 9417,
  "label": "congenital stationary night blindness autosomal dominant 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008099",
  "properties": {
    "xrefs": [
      "DOID:0110863",
      "GARD:0015096",
      "MEDGEN:361814",
      "MESH:C566869",
      "OMIM:163500",
      "UMLS:C1876182"
    ],
    "synonyms": [
      "CSNBAD2",
      "PDE6B congenital stationary night blindness",
      "congenital stationary night blindness autosomal dominant type 2",
      "congenital stationary night blindness caused by mutation in PDE6B",
      "night blindness, congenital stationary, autosomal dominant type 2",
      "night blindness, congenital stationary, Rambusch type",
      "night blindness, congenital stationary, autosomal dominant 2"
    ],
    "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 PDE6B gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16849,
      "label": "congenital stationary night blindness"
    }
  ]
}