{
  "id": 24638,
  "label": "CACNA1F-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700243",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": 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": 11504,
      "label": "X-linked cone-rod dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20388,
        24638
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111007",
          "GARD:0010654",
          "MEDGEN:336932",
          "MESH:C564507",
          "OMIM:300476",
          "UMLS:C1845407"
        ],
        "synonyms": [
          "CORDX3",
          "X-linked cone-rod dystrophy type 3",
          "cone-rod dystrophy, X-linked, 3, X-linked recessive",
          "cone-rod dystrophy, X-linked, type 3",
          "cone-rod dystrophy X-linked 3",
          "cone-rod dystrophy, X-linked, 3"
        ],
        "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": 0,
      "reference_id": "MONDO:0010335"
    },
    {
      "id": 11536,
      "label": "Aland island eye disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        24638
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050630",
          "GARD:0010574",
          "MEDGEN:120643",
          "MESH:C562664",
          "OMIM:300600",
          "Orphanet:178333",
          "SCTID:266455006",
          "UMLS:C0268505"
        ],
        "synonyms": [
          "AIED",
          "Aland island eye disease",
          "FORSIUS-Eriksson type ocular albinism",
          "Forsius-Eriksson syndrome",
          "Forsius-Eriksson type ocular albinism",
          "ALAND ISLAND eye disease",
          "Forsius Eriksson type ocular albinism",
          "Åland Islands eye disease"
        ],
        "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 X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010371"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}