{
  "id": 29282,
  "label": "PROM1-related recessive retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1040052",
  "properties": {
    "xrefs": [
      "GARD:0027254"
    ],
    "synonyms": [
      "PROM1-related recessive 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 autosomal recessive variants in the PROM1 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 13836,
      "label": "retinitis pigmentosa 41",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        29282
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110376",
          "GARD:0010379",
          "MEDGEN:383126",
          "MESH:C567422",
          "OMIM:612095",
          "UMLS:C2677516"
        ],
        "synonyms": [
          "PROM1 retinitis pigmentosa",
          "RP41",
          "retinitis pigmentosa 41",
          "retinitis pigmentosa caused by mutation in PROM1",
          "retinitis pigmentosa type 41",
          "RP 41",
          "retinal Degeneration, autosomal recessive, prominin-related"
        ],
        "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 retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012796"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 29286,
      "label": "PROM1-related retinopathy"
    }
  ]
}