{
  "id": 11717,
  "label": "blue cone monochromacy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010563",
  "properties": {
    "xrefs": [
      "DOID:0050679",
      "GARD:0000917",
      "MEDGEN:87386",
      "MESH:C536238",
      "OMIM:303700",
      "Orphanet:16",
      "SCTID:24704003",
      "UMLS:C0339537"
    ],
    "synonyms": [
      "S cone monochromacy",
      "S cone monochromatism",
      "X-linked incomplete achromatopsia",
      "atypical X-linked achromatopsia",
      "blue cone monochromacy",
      "blue cone monochromacy, X-linked recessive",
      "blue cone monochromatism",
      "color blindness, blue monocone monochromatic type",
      "colour blindness, blue monocone monochromatic type",
      "BCM",
      "CBBM",
      "X-chromosome-linked achromatopsia",
      "X-linked achromatopsia incomplete",
      "achromatopsia incomplete X-linked",
      "color blindness blue mono cone monochromatic type",
      "colorblindness, blue-Mono-cone-monochromatic type",
      "colour blindness blue mono cone monochromatic type",
      "cone dystrophy 5, X-linked",
      "incomplete achromatopsia X-linked"
    ],
    "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": "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia."
  },
  "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": 20040,
      "label": "X-linked recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080012",
          "MEDGEN:1798083",
          "UMLS:C5566660"
        ],
        "definition": "X-linked recessive form of disease."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020605"
    },
    {
      "id": 20388,
      "label": "X-linked cone-rod dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        16636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025295"
        ],
        "synonyms": [
          "cone-rod dystrophy, X-linked"
        ],
        "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": "X-linked form of cone-rod dystrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0021155"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18788,
      "label": "achromatopsia"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease"
    },
    {
      "id": 20388,
      "label": "X-linked cone-rod dystrophy"
    }
  ]
}