{
  "id": 22468,
  "label": "night blindness, congenital stationary, type1i",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0032811",
  "properties": {
    "xrefs": [
      "GARD:0016364",
      "MEDGEN:1684817",
      "OMIM:618555",
      "UMLS:C5231408"
    ],
    "synonyms": [
      "CSNB1I",
      "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I",
      "night blindness, congenital stationary, type 1I"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "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"
    },
    {
      "id": 24180,
      "label": "GUCY2D-related recessive retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        24181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026227"
        ],
        "synonyms": [
          "recessive GUCY2D retinopathy",
          "CORD6",
          "CRB",
          "GUCY2D Leber congenital amaurosis",
          "GUCY2D cone-rod dystrophy",
          "LCA",
          "LCA1",
          "Leber congenital amaurosis 1",
          "Leber congenital amaurosis caused by mutation in GUCY2D",
          "Leber congenital amaurosis type 1",
          "RCD2",
          "amaurosis congenita of Leber 1",
          "amaurosis congenita of Leber I",
          "amaurosis congenita of Leber, type 1",
          "cone-rod dystrophy 6",
          "cone-rod dystrophy caused by mutation in GUCY2D",
          "cone-rod dystrophy type 6",
          "night blindness, congenital stationary, type 1I",
          "retinal blindness, congenital",
          "retinal cone dystrophy 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": "A retinopathy caused by biallelic variants in the GUCY2D gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100453"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16849,
      "label": "congenital stationary night blindness"
    },
    {
      "id": 24180,
      "label": "GUCY2D-related recessive retinopathy"
    }
  ]
}