{
  "id": 11165,
  "label": "short-rib thoracic dysplasia 9 with or without polydactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009964",
  "properties": {
    "xrefs": [
      "DOID:0110097",
      "GARD:0015227",
      "ICD9:759.89",
      "MEDGEN:341455",
      "OMIM:266920",
      "Orphanet:140969",
      "SCTID:254092004",
      "UMLS:C1849437"
    ],
    "synonyms": [
      "Conorenal syndrome",
      "Mainzer Saldino syndrome",
      "Mainzer-Saldino syndrome",
      "SRTD9",
      "Saldino-Mainzer syndrome",
      "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome",
      "short-rib thoracic dysplasia 9 with or without polydactyly",
      "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia"
    ],
    "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 IFT140 gene on chromosome 16p13."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019194",
          "MEDGEN:1843369",
          "Orphanet:93436",
          "UMLS:C4736195",
          "icd11.foundation:177141175"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0019695"
    },
    {
      "id": 24234,
      "label": "IFT140-related recessive ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026257"
        ],
        "synonyms": [
          "IFT140-related recessive ciliopathy",
          "retinitis pigmentosa 80",
          "short-rib thoracic dysplasia 9 with or without polydactyly"
        ],
        "definition": "Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100509"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18735,
      "label": "Jeune syndrome"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia"
    },
    {
      "id": 24234,
      "label": "IFT140-related recessive ciliopathy"
    }
  ]
}