{
  "id": 11711,
  "label": "choroideremia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010557",
  "properties": {
    "xrefs": [
      "DOID:9821",
      "GARD:0006061",
      "ICD10CM:H31.21",
      "ICD9:363.55",
      "MEDGEN:944",
      "MESH:D015794",
      "MedDRA:10008791",
      "NCIT:C34469",
      "NORD:932",
      "OMIM:303100",
      "Orphanet:180",
      "SCTID:75241009",
      "UMLS:C0008525",
      "icd11.foundation:217923263"
    ],
    "synonyms": [
      "CHM",
      "Tapetochoroidal dystrophy",
      "choroideremia",
      "progressive choroidal atrophy",
      "TCD",
      "Tapetochoroidal dystrophy, progressive",
      "choroidal sclerosis",
      "progressive tapetochoroidal dystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 4072,
      "label": "optic choroid disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4712,
        7202
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1417",
          "ICD9:363.8",
          "ICD9:363.9",
          "MEDGEN:892839",
          "MESH:D015862",
          "NCIT:C34468",
          "SCTID:128468007",
          "UMLS:C4025836"
        ],
        "synonyms": [
          "choroid disorder",
          "disease of optic choroid",
          "disease or disorder of optic choroid",
          "disorder of optic choroid",
          "optic choroid disease",
          "optic choroid disease or disorder",
          "choroid disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease involving the optic choroid."
      },
      "child_count": 14,
      "reference_id": "MONDO:0001898"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal dystrophy"
        ],
        "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": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        7065
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:857738",
          "NCIT:C117007",
          "UMLS:C3898144"
        ],
        "synonyms": [
          "disease of nervous system vasculature",
          "nervous system disorder of vasculature",
          "neurovascular disorder",
          "vasculature nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the nervous system related to a vascular etiology."
      },
      "child_count": 58,
      "reference_id": "MONDO:0043218"
    }
  ],
  "children": [
    {
      "id": 6643,
      "label": "total central choroidal atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10240,
        11711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9820",
          "GARD:0024129",
          "MEDGEN:509706",
          "SCTID:392049002",
          "UMLS:C0154898"
        ],
        "synonyms": [
          "total central choroidal atrophy",
          "central gyrate choroidal dystrophy",
          "helicoid choroid dystrophy",
          "total central choroid atrophy",
          "total central dystrophy of choroid"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0004889"
    },
    {
      "id": 20957,
      "label": "choroideremia hypopituitarism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11711
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:1434",
          "SCTID:715417002"
        ],
        "synonyms": [
          "CHM-hypopituitarism syndrome",
          "choroideremia hypopituitarism",
          "choroideraemia co-occurrent with hypopituitarism",
          "choroideraemia hypopituitarism",
          "choroideremia co-occurrent with hypopituitarism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain."
      },
      "child_count": 0,
      "reference_id": "MONDO:0022737"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 4072,
      "label": "optic choroid disorder"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder"
    }
  ]
}