{
  "id": 16225,
  "label": "Joubert syndrome and related disorders",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015369",
  "properties": {
    "xrefs": [
      "GARD:0019931",
      "MEDGEN:1826007",
      "NANDO:1200661",
      "NANDO:2100218",
      "NANDO:2200824",
      "Orphanet:140874",
      "UMLS:C5679612"
    ],
    "synonyms": [
      "JSRD",
      "Joubert syndrome and related disorders"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 19711,
      "label": "autosomal recessive congenital cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019412",
          "MEDGEN:1843070",
          "Orphanet:98095",
          "UMLS:C5681519"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020043"
    }
  ],
  "children": [
    {
      "id": 10706,
      "label": "Joubert syndrome with oculorenal defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16225,
        19709,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009455",
          "MEDGEN:340930",
          "MESH:C537430",
          "NANDO:1200662",
          "OMIM:243910",
          "Orphanet:2318",
          "SCTID:721862000",
          "UMLS:C1855675",
          "icd11.foundation:397835469"
        ],
        "synonyms": [
          "Arima syndrome",
          "CORS",
          "Cerebellooculorenal syndrome",
          "Dekaban-Arima syndrome",
          "JS type B",
          "JS-OR",
          "Joubert syndrome with Senior-Loken syndrome",
          "Joubert syndrome with oculorenal defect",
          "Dekaban Arima syndrome",
          "Joubert syndrome 5",
          "Joubert syndrome with bilateral chorioretinal coloboma",
          "Joubert syndrome with oculorenal anomalies",
          "cerebello-oculo-renal syndrome",
          "cerebro-oculo-hepato-renal syndrome",
          "cerebrooculohepatorenal syndrome",
          "chorioretinal coloboma with cerebellar vermis aplasia",
          "coloboma, chorioretinal, with cerebellar vermis aplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease."
      },
      "child_count": 20,
      "reference_id": "MONDO:0009480"
    },
    {
      "id": 16896,
      "label": "Joubert syndrome with ocular defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16225,
        19709,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010168",
          "MEDGEN:909607",
          "Orphanet:220493",
          "SCTID:716998009",
          "UMLS:C4274118",
          "icd11.foundation:1358617785"
        ],
        "synonyms": [
          "JS-O",
          "Joubert syndrome with retinopathy",
          "JBTS3",
          "Joubert syndrome 3",
          "Joubert syndrome with ocular anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy."
      },
      "child_count": 20,
      "reference_id": "MONDO:0016364"
    },
    {
      "id": 18431,
      "label": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16225,
        16302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017637",
          "MEDGEN:1371401",
          "Orphanet:397715",
          "SCTID:733418003",
          "UMLS:C4518774"
        ],
        "synonyms": [
          "JBTS with JATD",
          "Joubert syndrome with JATD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018342"
    },
    {
      "id": 24077,
      "label": "COACH syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16225,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111589",
          "GARD:0001410",
          "MEDGEN:387879",
          "MESH:C536430",
          "Orphanet:1454",
          "SCTID:721847002",
          "UMLS:C1857662"
        ],
        "synonyms": [
          "JS-H",
          "Joubert syndrome with congenital hepatic fibrosis",
          "Joubert syndrome with hepatic defect",
          "cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis",
          "gentile syndrome",
          "cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100349"
    }
  ],
  "roots": [
    {
      "id": 19711,
      "label": "autosomal recessive congenital cerebellar ataxia"
    }
  ]
}