{
  "id": 3860,
  "label": "retinal dystrophies primarily involving Bruch's membrane",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001666",
  "properties": {
    "xrefs": [
      "DOID:13227",
      "GARD:0022986",
      "ICD9:362.77",
      "MEDGEN:1720702",
      "UMLS:C0154866"
    ],
    "synonyms": [
      "Bruch's membrane inherited retinal dystrophy",
      "inherited retinal dystrophy of Bruch's membrane"
    ],
    "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": "A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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": 8859,
      "label": "basal laminar drusen",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3860,
        8378
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060746",
          "GARD:0015060",
          "MEDGEN:152676",
          "MESH:C563034",
          "OMIM:126700",
          "UMLS:C0730295"
        ],
        "synonyms": [
          "basal laminar drusen",
          "drusen of Bruch membrane",
          "drusen, cuticular",
          "drusen, early adult-onset, grouped"
        ],
        "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": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007472"
    }
  ],
  "roots": [
    {
      "id": 4072,
      "label": "optic choroid disorder"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    },
    {
      "id": 23165,
      "label": "neurovascular disorder"
    }
  ]
}