{
  "id": 20957,
  "label": "choroideremia hypopituitarism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0022737",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11711,
      "label": "choroideremia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        4072,
        19000,
        23165
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0010557"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11711,
      "label": "choroideremia"
    }
  ]
}