{
  "id": 10813,
  "label": "spondylometaphyseal dysplasia, Sedaghatian type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009593",
  "properties": {
    "xrefs": [
      "DOID:0112298",
      "GARD:0004993",
      "MEDGEN:340816",
      "MESH:C535798",
      "OMIM:250220",
      "Orphanet:93317",
      "UMLS:C1855229",
      "icd11.foundation:975738106"
    ],
    "synonyms": [
      "spondylometaphyseal dysplasia, Sedaghatian type",
      "SMDS",
      "Sedaghatian chondrodysplasia",
      "lethal metaphyseal dysplasia",
      "metaphyseal chondrodysplasia, congenital lethal",
      "spondylometaphyseal dysplasia Sedaghatian type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112295",
          "GARD:0018685",
          "MEDGEN:1674850",
          "OMIMPS:184255",
          "Orphanet:254",
          "UMLS:C4759767",
          "icd11.foundation:181781948"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life."
      },
      "child_count": 19,
      "reference_id": "MONDO:0016763"
    },
    {
      "id": 22996,
      "label": "inherited glutathione metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19105,
        23664,
        24199
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025825",
          "MEDGEN:541346",
          "SCTID:72262000",
          "UMLS:C0268518"
        ],
        "synonyms": [
          "disorder of glutathione metabolism",
          "glutathione metabolism disorder, inherited",
          "inborn error of glutathione metabolic process",
          "inborn error of glutathione metabolism",
          "inborn glutathione metabolic process disorder",
          "rare inborn error of glutathione metabolic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process."
      },
      "child_count": 18,
      "reference_id": "MONDO:0040566"
    },
    {
      "id": 24805,
      "label": "severe spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026429"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of spondylodysplastic dysplasia that has a high degree of severity."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800080"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia"
    },
    {
      "id": 22996,
      "label": "inherited glutathione metabolism disease"
    },
    {
      "id": 24805,
      "label": "severe spondylodysplastic dysplasia"
    }
  ]
}