{
  "id": 14819,
  "label": "infantile cerebellar-retinal degeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013802",
  "properties": {
    "xrefs": [
      "DOID:0050883",
      "GARD:0013264",
      "MEDGEN:482822",
      "OMIM:614559",
      "Orphanet:313850",
      "UMLS:C3281192"
    ],
    "synonyms": [
      "infantile cerebellar-retinal degeneration",
      "ICRD",
      "infantile cerebellar retinal degeneration"
    ],
    "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": "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17230,
      "label": "tricarboxylic acid cycle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020753",
          "MEDGEN:1843282",
          "Orphanet:254749",
          "UMLS:C5679646"
        ],
        "synonyms": [
          "Krebs cycle disorder",
          "TCA cycle disorder",
          "citric acid cycle disorder",
          "inborn error of tricarboxylic acid cycle",
          "inborn tricarboxylic acid cycle disorder",
          "rare inborn error of tricarboxylic acid cycle"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016790"
    },
    {
      "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"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17230,
      "label": "tricarboxylic acid cycle disorder"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}