{
  "id": 19029,
  "label": "Oguchi disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019152",
  "properties": {
    "xrefs": [
      "GARD:0010118",
      "MEDGEN:224927",
      "MESH:C537743",
      "Orphanet:75382",
      "UMLS:C1306122",
      "icd11.foundation:1759055065"
    ],
    "synonyms": [
      "Oguchi disease",
      "Oguchi syndrome",
      "congenital stationary night blindness, Oguchi type",
      "stationary night blindness, Oguchi type"
    ],
    "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": "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal dystrophy"
        ],
        "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 instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    }
  ],
  "children": [
    {
      "id": 10985,
      "label": "Oguchi disease-1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19029
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110712",
          "GARD:0024695",
          "MEDGEN:1645330",
          "OMIM:258100",
          "UMLS:C4551824"
        ],
        "synonyms": [
          "CSNBO1",
          "Oguchi disease caused by mutation in SAG",
          "Oguchi disease type 1",
          "SAG Oguchi disease",
          "Oguchi disease 1",
          "night blindness, congenital stationary, Oguchi type 1"
        ],
        "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 Oguchi disease in which the cause of the disease is a mutation in the SAG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009775"
    },
    {
      "id": 14295,
      "label": "Oguchi disease-2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19029
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110713",
          "GARD:0015660",
          "MEDGEN:462028",
          "OMIM:613411",
          "UMLS:C3150678"
        ],
        "synonyms": [
          "CSNBO2",
          "GRK1 Oguchi disease",
          "Oguchi disease caused by mutation in GRK1",
          "Oguchi disease type 2",
          "Oguchi disease 2",
          "night blindness, congenital stationary, Oguchi type 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 Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013259"
    }
  ],
  "roots": [
    {
      "id": 16849,
      "label": "congenital stationary night blindness"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}