{
  "id": 24025,
  "label": "enhanced S-cone syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100288",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19768,
      "label": "vitreoretinal degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3599,
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005506",
          "HP:0007964",
          "MEDGEN:87480",
          "Orphanet:98670",
          "SCTID:247182006",
          "UMLS:C0344290"
        ],
        "synonyms": [
          "degenerative vitreoretinopathy"
        ],
        "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": 18,
      "reference_id": "MONDO:0020248"
    }
  ],
  "children": [
    {
      "id": 24026,
      "label": "Goldmann-Favre syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24025
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100289"
    },
    {
      "id": 24759,
      "label": "enhanced S-cone syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24025
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061232",
          "OMIM:621371"
        ],
        "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 enhanced S-cone syndrome caused by a variation in the NRL gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700386"
    }
  ],
  "roots": [
    {
      "id": 19768,
      "label": "vitreoretinal degeneration"
    }
  ]
}