{
  "id": 24995,
  "label": "ABCA4-related retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800406",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal dystrophy"
        ],
        "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 instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    }
  ],
  "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": 12260,
      "label": "retinitis pigmentosa 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        24995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110354",
          "GARD:0010398",
          "MEDGEN:400996",
          "MESH:C566637",
          "OMIM:601718",
          "UMLS:C1866422"
        ],
        "synonyms": [
          "ABCA4 retinitis pigmentosa",
          "RP19",
          "retinitis pigmentosa 19",
          "retinitis pigmentosa caused by mutation in ABCA4",
          "retinitis pigmentosa type 19",
          "RP 19"
        ],
        "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 ABCA4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011137"
    },
    {
      "id": 12500,
      "label": "cone-rod dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16636,
        24995
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111013",
          "GARD:0010653",
          "MEDGEN:349030",
          "MESH:C565827",
          "OMIM:604116",
          "UMLS:C1858806"
        ],
        "synonyms": [
          "ABCA4 cone-rod dystrophy",
          "CORD3",
          "cone-rod dystrophy 3",
          "cone-rod dystrophy caused by mutation in ABCA4",
          "cone-rod dystrophy 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"
          }
        ],
        "definition": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011395"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}