{
  "id": 15683,
  "label": "short-rib thoracic dysplasia 14 with polydactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014688",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18735,
      "label": "Jeune syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000,
        16302,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050592",
          "GARD:0003049",
          "MEDGEN:78548",
          "MESH:C537571",
          "MedDRA:10057621",
          "NCIT:C84794",
          "NORD:1074",
          "OMIMPS:208500",
          "Orphanet:474",
          "SCTID:75049004",
          "UMLS:C0265275",
          "icd11.foundation:554018956"
        ],
        "synonyms": [
          "Asphyxiating Thoracic Dystrophy",
          "JATD",
          "Jeune asphyxiating thoracic dystrophy",
          "Jeune syndrome",
          "asphyxiating thoracic dystrophy of the newborn",
          "short-rib thoracic dysplasia",
          "thoracic pelvic phalangeal dystrophy",
          "ATD",
          "Chondroectodermal dysplasia-like syndrome",
          "Jeune's syndrome",
          "asphyxiating thoracic dystrophy",
          "infantile thoracic dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes."
      },
      "child_count": 72,
      "reference_id": "MONDO:0018770"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18431,
      "label": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy"
    },
    {
      "id": 18735,
      "label": "Jeune syndrome"
    }
  ]
}