{
  "id": 15672,
  "label": "achromatopsia 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014677",
  "properties": {
    "xrefs": [
      "DOID:0110009",
      "GARD:0016129",
      "MEDGEN:904646",
      "OMIM:616517",
      "UMLS:C4225297"
    ],
    "synonyms": [
      "ACHM7",
      "ATF6 achromatopsia",
      "achromatopsia 7",
      "achromatopsia caused by mutation in ATF6",
      "achromatopsia type 7"
    ],
    "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 ATF6 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": 24174,
      "label": "ATF6-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026222"
        ],
        "synonyms": [
          "ATF6 retinopathy",
          "ATF6-related retinopathy",
          "ACHM7",
          "ATF6 achromatopsia",
          "achromatopsia 7",
          "achromatopsia caused by mutation in ATF6",
          "achromatopsia type 7"
        ],
        "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": "A retinopathy caused by biallelic variants in the AFT6 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100447"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18788,
      "label": "achromatopsia"
    },
    {
      "id": 24174,
      "label": "ATF6-related retinopathy"
    }
  ]
}