{
  "id": 11078,
  "label": "achromatopsia 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009875",
  "properties": {
    "xrefs": [
      "DOID:0110008",
      "GARD:0009650",
      "MEDGEN:340413",
      "OMIM:262300",
      "UMLS:C1849792"
    ],
    "synonyms": [
      "ACHM3",
      "CNGB3 achromatopsia",
      "achromatopsia 3",
      "achromatopsia caused by mutation in CNGB3",
      "achromatopsia type 3",
      "ACHM1 (formerly)",
      "ACHM1, formerly",
      "RMCH1 (formerly)",
      "Rod monochromacy 1 (formerly)",
      "Rod monochromatism 1 (formerly)",
      "achromatopsia with myopia",
      "rod monochromacy 1, formerly",
      "rod monochromatism 1, formerly",
      "total colorblindness with myopia"
    ],
    "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 CNGB3 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": 24173,
      "label": "CNGB3-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19001,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026221"
        ],
        "synonyms": [
          "CNGB3 retinopathy",
          "ACHM1",
          "ACHM1 (formerly)",
          "ACHM1, formerly",
          "ACHM3",
          "CNGB3 achromatopsia",
          "RMCH1",
          "RMCH1 (formerly)",
          "Rod monochromacy 1 (formerly)",
          "Rod monochromatism 1 (formerly)",
          "achromatopsia 3",
          "achromatopsia caused by mutation in CNGB3",
          "achromatopsia type 3",
          "achromatopsia with myopia",
          "rod monochromacy 1",
          "rod monochromacy 1, formerly",
          "rod monochromatism 1",
          "rod monochromatism 1, formerly",
          "total colorblindness with myopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A retinopathy caused by biallelic variants in the CNGB3 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100446"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18788,
      "label": "achromatopsia"
    },
    {
      "id": 24173,
      "label": "CNGB3-related retinopathy"
    }
  ]
}