{
  "id": 17391,
  "label": "MRCS syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016979",
  "properties": {
    "xrefs": [
      "GARD:0017255",
      "MEDGEN:1666962",
      "Orphanet:263347",
      "UMLS:C4749856",
      "icd11.foundation:392681472"
    ],
    "synonyms": [
      "microcornea-rod-cone dystrophy-cataract-posterior staphyloma 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": "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}