{
  "id": 19189,
  "label": "Stargardt disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019353",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5003,
      "label": "macular degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4448",
          "EFO:0009606",
          "MEDGEN:7434",
          "MESH:D008268",
          "NCIT:C123330",
          "SCTID:422338006",
          "UMLS:C0024437"
        ],
        "synonyms": [
          "macula lutea retinal degeneration",
          "macula retinal degeneration",
          "retinal degeneration of macula lutea"
        ],
        "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": "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."
      },
      "child_count": 9,
      "reference_id": "MONDO:0003004"
    },
    {
      "id": 16936,
      "label": "familial flecked retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:227786",
          "icd11.foundation:979898273"
        ],
        "synonyms": [
          "hereditary flecked 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"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016420"
    }
  ],
  "children": [
    {
      "id": 10771,
      "label": "severe early-childhood-onset retinal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19189,
        24995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061241",
          "GARD:0021565",
          "MEDGEN:383691",
          "OMIM:248200",
          "Orphanet:364055",
          "SCTID:716663009",
          "UMLS:C1855465"
        ],
        "synonyms": [
          "EOSRD",
          "SECORD",
          "Stargardt disease type 1",
          "early-onset severe retinal dystrophy",
          "STGD1",
          "Stargardt disease 1",
          "Stgd",
          "fundus flavimaculatus",
          "macular Degeneration, juvenile",
          "macular dystrophy with flecks, type 1",
          "retinal dystrophy, early-onset severe"
        ],
        "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": "Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009549"
    },
    {
      "id": 11955,
      "label": "Stargardt disease 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19189,
        24622
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061238",
          "GARD:0015314",
          "MEDGEN:333146",
          "MESH:C535805",
          "OMIM:600110",
          "UMLS:C1838644"
        ],
        "synonyms": [
          "Stargardt disease 3",
          "Stargardt disease type 3",
          "STGD3",
          "Stargardt-like macular dystrophy, autosomal dominant",
          "macular dystrophy with flecks, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010819"
    },
    {
      "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": 26355,
      "label": "Stargardt disease 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19189
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061240",
          "MEDGEN:1876540",
          "OMIM:621259",
          "UMLS:C6012746"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980722"
    }
  ],
  "roots": [
    {
      "id": 5003,
      "label": "macular degeneration"
    },
    {
      "id": 16936,
      "label": "familial flecked retinopathy"
    }
  ]
}