{
  "id": 11715,
  "label": "Coffin-Lowry syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010561",
  "properties": {
    "xrefs": [
      "DOID:3783",
      "GARD:0006123",
      "ICD9:759.89",
      "MEDGEN:75556",
      "MESH:C536435",
      "MESH:D038921",
      "NANDO:1200660",
      "NANDO:2200952",
      "NCIT:C84643",
      "NORD:983",
      "OMIM:303600",
      "Orphanet:192",
      "SCTID:15182000",
      "UMLS:C0265252",
      "icd11.foundation:380089065"
    ],
    "synonyms": [
      "CLS",
      "Coffin Lowry Syndrome",
      "Coffin-Lowry syndrome",
      "Coffin-Lowry syndrome, X-linked dominant",
      "COFFIN-Lowry syndrome",
      "Coffin syndrome",
      "Coffin syndrome 1",
      "dwarfism, lean spastic type",
      "intellectual disability with osteocartilaginous abnormalities",
      "lean spastic dwarfism",
      "mental retardation with osteocartilaginous abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060309",
          "OMIMPS:309510",
          "Orphanet:98464"
        ],
        "synonyms": [
          "X-linked syndromic intellectual disability",
          "intellectual disability, X-linked syndromic",
          "mental retardation, X-linked syndromic",
          "syndromic X-linked intellectual disability",
          "syndromic intellectual disability, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability with an X-linked mode of inheritance."
      },
      "child_count": 162,
      "reference_id": "MONDO:0020119"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}