{
  "id": 11153,
  "label": "radioulnar synostosis-developmental delay-hypotonia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009952",
  "properties": {
    "xrefs": [
      "GARD:0001810",
      "MEDGEN:341460",
      "MESH:C538217",
      "MESH:C564856",
      "OMIM:266255",
      "Orphanet:3270",
      "SCTID:721883006",
      "UMLS:C1849470"
    ],
    "synonyms": [
      "Der Kaloustian-McIntosh-Silver syndrome",
      "radioulnar synostosis with developmental delay and hypotonia syndrome",
      "der Kaloustian mcintosh silver syndrome",
      "radioulnar synostosis, unilateral, with developintellectual disability and hypotonia",
      "radioulnar synostosis, unilateral, with developmental retardation and hypotonia",
      "unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance",
      "unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance",
      "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance",
      "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 6982,
      "label": "developmental disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003852",
          "MESH:D002658"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)"
      },
      "child_count": 5,
      "reference_id": "MONDO:0005287"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 18161,
      "label": "congenital radioulnar synostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9827",
          "GARD:0010876",
          "HP:0002974",
          "ICD9:755.53",
          "MEDGEN:57861",
          "MESH:C562408",
          "Orphanet:3269",
          "SCTID:33313004",
          "UMLS:C0158761",
          "icd11.foundation:1098526181"
        ],
        "synonyms": [
          "radioulnar fusion",
          "radioulnar synostosis",
          "radioulnar synostosis (disease)",
          "proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius",
          "radial-ulnar synostosis",
          "radio-ulnar synostosis",
          "radio-ulnar synostosis type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017985"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 6982,
      "label": "developmental disability"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 18161,
      "label": "congenital radioulnar synostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}