{
  "id": 13449,
  "label": "achromatopsia 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012398",
  "properties": {
    "xrefs": [
      "DOID:0081025",
      "GARD:0010648",
      "MESH:C566483",
      "OMIM:610024"
    ],
    "synonyms": [
      "ACHM6",
      "RCD3A",
      "retinal cone dystrophy 3A",
      "retinal cone dystrophy type 3A"
    ],
    "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 caused by a mutation in the PDE6H gene, characterized by incomplete loss of color vision, with a red-green color vision defect and normal or near-normal blue-yellow vision. Reduced visual acuity is also present, but not progressive."
  },
  "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": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "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 characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18788,
      "label": "achromatopsia"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}