{
  "id": 23422,
  "label": "X-linked congenital stationary night blindness",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044749",
  "properties": {
    "xrefs": [
      "GARD:0003995"
    ],
    "synonyms": [
      "X-linked CSNB",
      "XLCSNB",
      "congenital stationary night blindness, X-linked"
    ],
    "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": "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "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": [
    {
      "id": 11417,
      "label": "congenital stationary night blindness 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23422,
        24638
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110871",
          "GARD:0015251",
          "MEDGEN:376299",
          "OMIM:300071",
          "UMLS:C1848172"
        ],
        "synonyms": [
          "CACNA1F congenital stationary night blindness",
          "CSNB, incomplete, X-linked",
          "congenital stationary night blindness caused by mutation in CACNA1F",
          "congenital stationary night blindness type 2A",
          "night blindness, congenital stationary (incomplete), 2A, X-linked",
          "CSNB2A",
          "night blindness, congenital stationary, type 2",
          "night blindness, congenital stationary, type 2A"
        ],
        "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 CACNA1F gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010241"
    },
    {
      "id": 11834,
      "label": "congenital stationary night blindness 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23422,
        24996
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110870",
          "GARD:0015306",
          "MEDGEN:501208",
          "OMIM:310500",
          "UMLS:C3495587"
        ],
        "synonyms": [
          "CSNB1A",
          "NYX congenital stationary night blindness",
          "NYX-related congenital stationary night blindness",
          "congenital stationary night blindness caused by mutation in NYX",
          "congenital stationary night blindness type 1A",
          "hemeralopia-myopia",
          "myopia-night blindness",
          "night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive",
          "night blindness, congenital stationary, type 1A",
          "CSNB, complete, X-linked",
          "night blindness, congenital stationary, with myopia",
          "nyctalopia"
        ],
        "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 caused by variants in the X-linked NYX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010690"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16849,
      "label": "congenital stationary night blindness"
    }
  ]
}