{
  "id": 12480,
  "label": "Stargardt disease 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011370",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19189,
      "label": "Stargardt disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003,
        16936
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050817",
          "GARD:0000181",
          "MEDGEN:75734",
          "MESH:D000080362",
          "MedDRA:10062766",
          "NANDO:1200933",
          "NCIT:C85078",
          "OMIMPS:248200",
          "Orphanet:827",
          "SCTID:47673003",
          "UMLS:C0271093",
          "icd11.foundation:1690038580"
        ],
        "synonyms": [
          "Stargardt 1",
          "fundus flavimaculatus",
          "Stargardt disease 1",
          "Stargardt macular dystrophy",
          "juvenile onset macular degeneration"
        ],
        "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": "Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019353"
    },
    {
      "id": 29283,
      "label": "PROM1-related dominant retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        29286
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:1040053"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19189,
      "label": "Stargardt disease"
    },
    {
      "id": 29283,
      "label": "PROM1-related dominant retinopathy"
    }
  ]
}