{
  "id": 10434,
  "label": "Lowry-Wood syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009191",
  "properties": {
    "xrefs": [
      "GARD:0000264",
      "MEDGEN:162899",
      "MESH:C537038",
      "MedDRA:10062600",
      "OMIM:226960",
      "Orphanet:1824",
      "SCTID:721975004",
      "UMLS:C0796021",
      "icd11.foundation:1713071905"
    ],
    "synonyms": [
      "LWS",
      "Lowry Wood syndrome",
      "Lowry-Wood syndrome",
      "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy",
      "epiphyseal dysplasia-microcephaly-nystagmus syndrome",
      "epiphyseal dysplasia, microcephaly and nystagmus"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24283,
      "label": "RNU4ATAC spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027275"
        ],
        "synonyms": [
          "RNU4ATAC-related disorder",
          "RNU4atac-opathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100558"
    },
    {
      "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": 24283,
      "label": "RNU4ATAC spectrum disorder"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder"
    }
  ]
}