{
  "id": 6982,
  "label": "developmental disability",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005287",
  "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)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [
    {
      "id": 11153,
      "label": "radioulnar synostosis-developmental delay-hypotonia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        6982,
        16087,
        18161,
        18956
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009952"
    },
    {
      "id": 17538,
      "label": "osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6979,
        6982,
        18933,
        23256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000587",
          "MEDGEN:928493",
          "MESH:C535617",
          "Orphanet:2773",
          "SCTID:722110003",
          "UMLS:C4302824"
        ],
        "synonyms": [
          "Al Gazali-Nair syndrome",
          "Al Gazali Sabrinathan Nair syndrome",
          "osteogenesis imperfecta retinopathy seizures intellectual deficit"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017196"
    },
    {
      "id": 20740,
      "label": "psychosocial short stature",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6982,
        8345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1805840",
          "MESH:C535569",
          "SCTID:39465007",
          "UMLS:C1398540",
          "icd11.foundation:2088216390"
        ],
        "synonyms": [
          "Kaspar Hauser syndrome",
          "abuse dwarfism syndrome",
          "child abuse dwarfism",
          "psychosocial dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021745"
    },
    {
      "id": 20796,
      "label": "bagatelle Cassidy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6982,
        17092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000398",
          "MEDGEN:444100",
          "MESH:C537796",
          "UMLS:C2931616"
        ],
        "synonyms": [
          "macrocephaly short limbs deafness",
          "macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0021964"
    },
    {
      "id": 20822,
      "label": "Chitty Hall Webb syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:418975",
          "MESH:C535929",
          "SCTID:725103004",
          "UMLS:C2931066"
        ],
        "synonyms": [
          "bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022151"
    }
  ],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}