{
  "id": 14164,
  "label": "asphyxiating thoracic dystrophy 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013127",
  "properties": {
    "xrefs": [
      "DOID:0050549",
      "DOID:0110087",
      "GARD:0015613",
      "ICD9:759.89",
      "MEDGEN:19860",
      "MESH:C537602",
      "NCIT:C163755",
      "OMIM:613091",
      "Orphanet:93270",
      "Orphanet:93271",
      "SCTID:254051008",
      "SCTID:27330009",
      "UMLS:C0036069"
    ],
    "synonyms": [
      "ATD3",
      "DYNC2H1-related short rib thoracic dysplasia",
      "SRPS type 1",
      "SRPS type 3",
      "SRPS1",
      "SRPS2B",
      "SRPS3",
      "SRTD3",
      "Saldino-Noonan syndrome",
      "Verma-Naumoff syndrome",
      "asphyxiating thoracic dystrophy 3",
      "asphyxiating thoracic dystrophy type 3",
      "polydactyly with neonatal chondrodystrophy type 1",
      "polydactyly with neonatal chondrodystrophy type III",
      "polydactyly with neonatal chondrodystrophy, type 3",
      "short rib polydactyly syndrome Verma Naumoff type",
      "short rib-polydactyly syndrome Saldino-Noonan type",
      "short rib-polydactyly syndrome type 1",
      "short rib-polydactyly syndrome type 3",
      "short rib-polydactyly syndrome type III",
      "short rib-polydactyly syndrome, type 2B",
      "short-rib thoracic dysplasia 3 with or without polydactyly",
      "type I short rib polydactyly syndrome"
    ],
    "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": "An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18735,
      "label": "Jeune syndrome"
    }
  ]
}