{
  "id": 11448,
  "label": "spondyloepimetaphyseal dysplasia, Bieganski type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010275",
  "properties": {
    "xrefs": [
      "GARD:0004891",
      "MEDGEN:335350",
      "MESH:C536671",
      "MESH:C567065",
      "OMIM:300232",
      "Orphanet:168448",
      "Orphanet:83629",
      "UMLS:C1846148",
      "icd11.foundation:1073330593"
    ],
    "synonyms": [
      "H-SMD",
      "hypomyelination-spondyloepimetaphyseal dysplasia syndrome",
      "leukoencephalopathy-SEMD syndrome",
      "leukoencephalopathy-metaphyseal chondrodysplasia syndrome",
      "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive",
      "LKMCD",
      "SEMD X-linked with mental deterioration",
      "SEMD, X-linked, with mental deterioration",
      "leukoencephalopathy with metaphyseal chondrodysplasia",
      "spondyloepimetaphyseal dysplasia X-linked with mental deterioration",
      "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24235,
      "label": "spondyloepimetaphyseal dysplasia"
    }
  ]
}