{
  "id": 29283,
  "label": "PROM1-related dominant retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1040053",
  "properties": {
    "xrefs": [
      "GARD:0027255"
    ],
    "synonyms": [
      "PROM1-related dominant retinopathy"
    ],
    "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 retinopathy caused by an autosomal dominant variant in the PROM1 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 29286,
      "label": "PROM1-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027258"
        ],
        "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 retinopathy caused by variants in the PROM1 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:1040056"
    }
  ],
  "children": [
    {
      "id": 12480,
      "label": "Stargardt disease 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19189,
        29283
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061239",
          "GARD:0015359",
          "MEDGEN:355004",
          "MESH:C535521",
          "OMIM:603786",
          "UMLS:C1863534"
        ],
        "synonyms": [
          "PROM1 Stargardt disease",
          "Stargardt disease 4",
          "Stargardt disease caused by mutation in PROM1",
          "Stargardt disease type 4",
          "STGD4"
        ],
        "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 Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011370"
    },
    {
      "id": 13029,
      "label": "retinal macular dystrophy type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22223,
        29283
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070517",
          "GARD:0017467",
          "MEDGEN:1666864",
          "MESH:C562746",
          "OMIM:608051",
          "Orphanet:319640",
          "UMLS:C4749334"
        ],
        "synonyms": [
          "MCDR2",
          "macular dystrophy, retinal, type 2",
          "macular dystrophy, retinal, 2"
        ],
        "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": "Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011957"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 29286,
      "label": "PROM1-related retinopathy"
    }
  ]
}