{
  "id": 18431,
  "label": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018342",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16225,
      "label": "Joubert syndrome and related disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19711
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015369"
    },
    {
      "id": 16302,
      "label": "short rib-polydactyly syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16618,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018726",
          "ICD9:756.3",
          "MEDGEN:11412",
          "MESH:D012779",
          "NCIT:C85065",
          "Orphanet:1505",
          "SCTID:205484001",
          "UMLS:C0036996",
          "icd11.foundation:960900212"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015461"
    }
  ],
  "children": [
    {
      "id": 15292,
      "label": "Joubert syndrome 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18431,
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110990",
          "GARD:0015997",
          "MEDGEN:816542",
          "OMIM:615636",
          "UMLS:C3810212"
        ],
        "synonyms": [
          "CSPP1 Joubert syndrome",
          "JBTS21",
          "Joubert syndrome 21",
          "Joubert syndrome caused by mutation in CSPP1",
          "Joubert syndrome type 21"
        ],
        "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": "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014288"
    },
    {
      "id": 15683,
      "label": "short-rib thoracic dysplasia 14 with polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18431,
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110096",
          "GARD:0018467",
          "MEDGEN:901479",
          "OMIM:616546",
          "UMLS:C4225286"
        ],
        "synonyms": [
          "SRTD14",
          "short-rib thoracic dysplasia 14 with polydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014688"
    }
  ],
  "roots": [
    {
      "id": 16225,
      "label": "Joubert syndrome and related disorders"
    },
    {
      "id": 16302,
      "label": "short rib-polydactyly syndrome"
    }
  ]
}