{
  "id": 8656,
  "label": "campomelic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007251",
  "properties": {
    "xrefs": [
      "DOID:0050463",
      "GARD:0010027",
      "ICD9:733.29",
      "MEDGEN:354620",
      "MESH:D055036",
      "NCIT:C84609",
      "NORD:884",
      "OMIM:114290",
      "Orphanet:140",
      "SCTID:74928006",
      "UMLS:C1861922",
      "icd11.foundation:913761638"
    ],
    "synonyms": [
      "CMD",
      "Campomelic Syndrome",
      "campomelic dwarfism",
      "campomelic dysplasia",
      "acampomelic campomelic dysplasia",
      "CMPD1",
      "Cmd1",
      "Cmpd",
      "Cmpd1/Sra1",
      "acampomelic campomelic dysplasia with autosomal Sex reversal",
      "campomelic dysplasia with autosomal Sex reversal",
      "camptomelic dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    },
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 19475,
      "label": "bent bone dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019196",
          "ICD9:756.59",
          "MEDGEN:609415",
          "Orphanet:93439",
          "SCTID:254095002",
          "UMLS:C0432238"
        ],
        "synonyms": [
          "campomelic dysplasia and related disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 11,
      "reference_id": "MONDO:0019698"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6875,
      "label": "endocrine system disorder"
    },
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 19475,
      "label": "bent bone dysplasia"
    }
  ]
}