{
  "id": 10771,
  "label": "severe early-childhood-onset retinal dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009549",
  "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."
  },
  "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": 24995,
      "label": "ABCA4-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026556"
        ],
        "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 inherited retinopathy caused by bi-allelic variants in the ABCA4 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0800406"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19189,
      "label": "Stargardt disease"
    },
    {
      "id": 24995,
      "label": "ABCA4-related retinopathy"
    }
  ]
}