{
  "id": 24077,
  "label": "COACH syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100349",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 22075,
      "label": "COACH syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24077
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016422",
          "MEDGEN:1752166",
          "OMIM:619111",
          "UMLS:C5436837"
        ],
        "synonyms": [
          "CC2D2A COACH syndrome 2",
          "COACH2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any COACH syndrome in which the cause of the disease is a mutation in the CC2D2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030859"
    },
    {
      "id": 22078,
      "label": "COACH syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24077
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016423",
          "MEDGEN:1755565",
          "OMIM:619113",
          "UMLS:C5436841"
        ],
        "synonyms": [
          "COACH3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030862"
    },
    {
      "id": 24813,
      "label": "COACH syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24077
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015153",
          "MEDGEN:1769861",
          "OMIM:216360",
          "UMLS:C5435651"
        ],
        "synonyms": [
          "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800103"
    }
  ],
  "roots": [
    {
      "id": 16225,
      "label": "Joubert syndrome and related disorders"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}