{
  "id": 9089,
  "label": "spondyloepiphyseal dysplasia with congenital joint dislocations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007738",
  "properties": {
    "xrefs": [
      "DOID:0050813",
      "GARD:0013169",
      "ICD9:756.9",
      "MEDGEN:373381",
      "MESH:C537283",
      "OMIM:143095",
      "Orphanet:263463",
      "SCTID:702400006",
      "UMLS:C1837657"
    ],
    "synonyms": [
      "spondyloepiphyseal dysplasia",
      "CHST3-related skeletal dysplasia",
      "Humerospinal dysostosis",
      "SDCD, CHST3 type",
      "chondrodysplasia with congenital joint dislocations, CHST3 type",
      "chondrodysplasia with multiple dislocations",
      "spondyloepiphyseal dysplasia with congenital joint dislocations",
      "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type",
      "Gollop Coates syndrome",
      "SEDCJD",
      "bifurcation of distal humerus with oligoectro-syndactyly",
      "spondyloepiphyseal dysplasia with congenital JOINT dislocations",
      "spondyloepiphyseal dysplasia, Omani type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2777,
      "label": "mineral metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009556",
          "ICD10CM:E83",
          "ICD9:275.8",
          "ICD9:275.9",
          "MEDGEN:509562",
          "SCTID:45744005",
          "UMLS:C0154260"
        ],
        "synonyms": [
          "disease of mineral metabolism",
          "disorder of mineral metabolism"
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0000226"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2777,
      "label": "mineral metabolism disease"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    }
  ]
}