{
  "id": 11417,
  "label": "congenital stationary night blindness 2A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010241",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23422,
      "label": "X-linked congenital stationary night blindness",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        4427,
        16849
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0044749"
    },
    {
      "id": 24638,
      "label": "CACNA1F-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026392"
        ],
        "synonyms": [
          "CACNA1F-related retinopathy"
        ],
        "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 retinopathy caused by a variant in the CACNA1F gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0700243"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23422,
      "label": "X-linked congenital stationary night blindness"
    },
    {
      "id": 24638,
      "label": "CACNA1F-related retinopathy"
    }
  ]
}