{
  "id": 19236,
  "label": "microcephalic osteodysplastic dysplasia, Saul-Wilson type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019407",
  "properties": {
    "xrefs": [
      "DOID:0111673",
      "GARD:0016736",
      "MEDGEN:1375647",
      "OMIM:618150",
      "Orphanet:85172",
      "UMLS:C4509877",
      "icd11.foundation:738688839"
    ],
    "synonyms": [
      "SWILS",
      "Saul-Wilson syndrome",
      "microcephalic osteodysplastic dysplasia",
      "microcephalic osteodysplastic dysplasia, Saul-Wilson type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 7153,
      "label": "bone development disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7061,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080006",
          "EFO:0005541",
          "MEDGEN:2309",
          "SCTID:371521007",
          "UMLS:C0005941"
        ],
        "synonyms": [
          "bone development disease",
          "bone development disease or disorder",
          "disease of bone development",
          "disease or disorder of bone development",
          "disorder of bone development"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the bone development."
      },
      "child_count": 18,
      "reference_id": "MONDO:0005497"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026426"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death."
      },
      "child_count": 26,
      "reference_id": "MONDO:0800063"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 7153,
      "label": "bone development disease"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder"
    }
  ]
}