{
  "id": 14496,
  "label": "achromatopsia 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013465",
  "properties": {
    "xrefs": [
      "DOID:0110010",
      "GARD:0015723",
      "MEDGEN:330669",
      "MESH:C564206",
      "OMIM:613856",
      "UMLS:C1841721"
    ],
    "synonyms": [
      "ACHM4",
      "GNAT2 achromatopsia",
      "achromatopsia 4",
      "achromatopsia caused by mutation in GNAT2",
      "achromatopsia type 4"
    ],
    "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 achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18788,
      "label": "achromatopsia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3891,
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13911",
          "GARD:0015015",
          "ICD10CM:H53.51",
          "ICD9:368.54",
          "MEDGEN:57751",
          "MedDRA:10000454",
          "NCIT:C84528",
          "Orphanet:49382",
          "SCTID:102450007",
          "UMLS:C0152200"
        ],
        "synonyms": [
          "ACHM",
          "Pingelapese blindness",
          "Rod monochromacy",
          "Rod monochromatism",
          "achromatopsia",
          "complete or incomplete color blindness",
          "complete or incomplete colour blindness",
          "total color blindness",
          "total colour blindness"
        ],
        "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": "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function."
      },
      "child_count": 12,
      "reference_id": "MONDO:0018852"
    },
    {
      "id": 24981,
      "label": "GNAT2-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026542"
        ],
        "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 inherited retinopathy caused by bi-allelic variants in the GNAT2 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0800392"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18788,
      "label": "achromatopsia"
    },
    {
      "id": 24981,
      "label": "GNAT2-related retinopathy"
    }
  ]
}