{
  "id": 16639,
  "label": "ectopia lentis-chorioretinal dystrophy-myopia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015997",
  "properties": {
    "xrefs": [
      "GARD:0003999",
      "MEDGEN:419715",
      "MESH:C536124",
      "Orphanet:1884",
      "SCTID:722437006",
      "UMLS:C2931115"
    ],
    "synonyms": [
      "noble-Bass-Sherman syndrome",
      "ectopia lentis chorioretinal dystrophy myopia",
      "noble Bass Sherman syndrome"
    ],
    "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": "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3420,
      "label": "lens disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:110",
          "EFO:0009674",
          "ICD10CM:H25-H28",
          "ICD9:379.39",
          "MEDGEN:892382",
          "MESH:D007905",
          "NCIT:C26812",
          "SCTID:10810001",
          "UMLS:C0549651"
        ],
        "synonyms": [
          "disease of lens of camera-type eye",
          "disease or disorder of lens of camera-type eye",
          "disorder of lens of camera-type eye",
          "lens disorder",
          "lens of camera-type eye disease",
          "lens of camera-type eye disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease involving the lens of camera-type eye."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001176"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 3420,
      "label": "lens disorder"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}