{
  "id": 24026,
  "label": "Goldmann-Favre syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100289",
  "properties": {
    "xrefs": [
      "DOID:0061231",
      "GARD:0010781",
      "MEDGEN:87387",
      "OMIM:268100",
      "Orphanet:53540",
      "SCTID:232065000",
      "UMLS:C0339541",
      "icd11.foundation:890235941"
    ],
    "synonyms": [
      "enhanced S-cone syndrome 1",
      "retinoschisis with early nyctalopia"
    ],
    "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": "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24025,
      "label": "enhanced S-cone syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090059",
          "GARD:0026125",
          "MEDGEN:341446",
          "MESH:C564835",
          "OMIMPS:268100",
          "UMLS:C1849394"
        ],
        "synonyms": [
          "enhanced S-cone syndrome",
          "ESCS",
          "retinoschisis with early nyctalopia"
        ],
        "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 autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100288"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24025,
      "label": "enhanced S-cone syndrome"
    }
  ]
}