{
  "id": 24173,
  "label": "CNGB3-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100446",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 19001,
      "label": "muscular channelopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018917",
          "MEDGEN:1842600",
          "Orphanet:71864",
          "UMLS:C5681306"
        ],
        "synonyms": [
          "channelopathy of muscle tissue",
          "muscle tissue channelopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A channelopathy that involves the muscle tissue."
      },
      "child_count": 24,
      "reference_id": "MONDO:0019119"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    }
  ],
  "children": [
    {
      "id": 11078,
      "label": "achromatopsia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18788,
        24173
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009875"
    }
  ],
  "roots": [
    {
      "id": 19001,
      "label": "muscular channelopathy"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease"
    }
  ]
}