{
  "id": 15611,
  "label": "congenital stationary night blindness 1G",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014614",
  "properties": {
    "xrefs": [
      "DOID:0110714",
      "GARD:0016099",
      "MEDGEN:906532",
      "OMIM:616389",
      "UMLS:C4225345"
    ],
    "synonyms": [
      "CSNB1G",
      "congenital stationary night blindness type 1G",
      "night blindness, congenital stationary, type 1G"
    ],
    "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 congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21."
  },
  "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": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16849,
      "label": "congenital stationary night blindness"
    }
  ]
}