{
  "id": 19452,
  "label": "spondyloepimetaphyseal dysplasia, PAPSS2 type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019666",
  "properties": {
    "xrefs": [
      "DOID:0050812",
      "GARD:0016813",
      "MEDGEN:440564",
      "OMIM:612847",
      "Orphanet:93282",
      "SCTID:719172003",
      "UMLS:C2748516"
    ],
    "synonyms": [
      "brachyolmia 4 with mild epiphyseal and metaphyseal changes",
      "spondyloepimetaphyseal dysplasia, Pakistani type",
      "BCYM4",
      "SEMD, Pakistani type",
      "brachyolmia type 4 with mild epiphyseal and metaphyseal changes",
      "spondylodysplasia and premature pubarche"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."
  },
  "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": 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"
    },
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080027",
          "GARD:0026258",
          "MEDGEN:609408",
          "SCTID:254062008",
          "UMLS:C0432211"
        ],
        "synonyms": [
          "SEMD",
          "spondylo-epi-(meta)-physeal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis."
      },
      "child_count": 23,
      "reference_id": "MONDO:0100510"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2777,
      "label": "mineral metabolism disease"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia"
    }
  ]
}