{
  "id": 24488,
  "label": "neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700092",
  "properties": {
    "xrefs": [
      "EFO:0010642",
      "MEDGEN:453059",
      "MESH:D065886",
      "MedDRA:10064062",
      "NCIT:C89338",
      "SCTID:700364009",
      "UMLS:C1535926"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 18,
  "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": 3324,
      "label": "intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1059",
          "ICD10CM:F70-F79",
          "ICD9:319",
          "MEDGEN:811461",
          "MESH:D008607",
          "NCIT:C97250",
          "Orphanet:319658",
          "SCTID:91138005",
          "UMLS:C3714756",
          "icd11.foundation:605267007"
        ],
        "synonyms": [
          "intellectual disabilities",
          "intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001071"
    },
    {
      "id": 3394,
      "label": "microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10907",
          "HP:0000252",
          "ICD10CM:Q02",
          "ICD10WHO:Q02",
          "ICD9:742.1",
          "MEDGEN:1644158",
          "MESH:D008831",
          "NCIT:C85874",
          "SCTID:1829003",
          "UMLS:C4551563",
          "icd11.foundation:179350437"
        ],
        "synonyms": [
          "microcephalus",
          "microcephaly",
          "microcephaly (disease)",
          "microencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex."
      },
      "child_count": 20,
      "reference_id": "MONDO:0001149"
    },
    {
      "id": 9953,
      "label": "Williams syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        17325,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:3",
          "DOID:1928",
          "GARD:0007891",
          "ICD10CM:Q93.82",
          "ICD9:759.89",
          "MEDGEN:59799",
          "MESH:D018980",
          "MedDRA:10049644",
          "NANDO:1200664",
          "NANDO:2200286",
          "NCIT:C85232",
          "NORD:1854",
          "OMIM:194050",
          "Orphanet:904",
          "SCTID:63247009",
          "UMLS:C0175702"
        ],
        "synonyms": [
          "Williams syndrome",
          "Williams-Beuren syndrome",
          "Williams-Beuren syndrome (WBS)",
          "deletion 7q11.23",
          "monosomy 7q11.23",
          "WBS",
          "WMS",
          "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0008678"
    },
    {
      "id": 11722,
      "label": "Aicardi syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        20383,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8461",
          "GARD:0005764",
          "MEDGEN:61236",
          "MESH:D058540",
          "MedDRA:10054935",
          "NANDO:1200562",
          "NCIT:C35256",
          "NORD:745",
          "OMIM:304050",
          "Orphanet:50",
          "SCTID:80651009",
          "UMLS:C0175713",
          "icd11.foundation:2057245946"
        ],
        "synonyms": [
          "AIC",
          "Aicardi syndrome",
          "Aicardi syndrome, X-linked dominant",
          "Aicardi’s syndrome",
          "agenesis of corpus callosum with chorioretinal abnormality",
          "corpus callosum agenesis of with chorioretinal abnormality",
          "corpus callosum, agenesis of, with chorioretinal abnormality"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010568"
    },
    {
      "id": 15793,
      "label": "Hao-Fountain syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025017",
          "MEDGEN:1719035",
          "NORD:1917",
          "Orphanet:643549",
          "UMLS:C5393908"
        ],
        "synonyms": [
          "HAFOUS",
          "USP7-Related Diseases"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0014805"
    },
    {
      "id": 16658,
      "label": "toluene embryopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17143,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018751",
          "MEDGEN:444131",
          "MESH:C538114",
          "Orphanet:1920",
          "UMLS:C2931737",
          "icd11.foundation:1446076607"
        ],
        "synonyms": [
          "toluene embryopathy",
          "Hersh Podruch Weisskopk syndrome",
          "microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016016"
    },
    {
      "id": 16794,
      "label": "alternating hemiplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020446",
          "MEDGEN:124456",
          "Orphanet:209978",
          "SCTID:404689008",
          "UMLS:C0278110",
          "icd11.foundation:774373615"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016210"
    },
    {
      "id": 17975,
      "label": "atypical Rett syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004694",
          "MEDGEN:440664",
          "NANDO:1200605",
          "Orphanet:3095",
          "SCTID:718393002",
          "UMLS:C2748910",
          "icd11.foundation:605088126"
        ],
        "synonyms": [
          "Rett syndrome variant",
          "atypical RTT",
          "Rett like syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017746"
    },
    {
      "id": 18672,
      "label": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        18362,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017785",
          "Orphanet:453499"
        ],
        "synonyms": [
          "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0018681"
    },
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017965",
          "MEDGEN:1800189",
          "Orphanet:528084",
          "UMLS:C5568766"
        ],
        "synonyms": [
          "complex neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0100038"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    },
    {
      "id": 24250,
      "label": "TCF7L2-related neurodevelopmental disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100525"
    },
    {
      "id": 25332,
      "label": "neurodevelopmental disorder with seizures and brain abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1794189",
          "OMIM:619517",
          "UMLS:C5561979"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859188"
    },
    {
      "id": 25364,
      "label": "Yoon-Bellen neurodevelopmental syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070468",
          "MEDGEN:1794276",
          "OMIM:619701",
          "UMLS:C5562066"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859221"
    },
    {
      "id": 25424,
      "label": "neurodevelopmental disorder with microcephaly, hypotonia, and absent language",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1823989",
          "OMIM:620038",
          "UMLS:C5774216"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859287"
    },
    {
      "id": 25431,
      "label": "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081324",
          "MEDGEN:1824002",
          "OMIM:620071",
          "UMLS:C5774229"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859296"
    },
    {
      "id": 26186,
      "label": "neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1875124",
          "OMIM:621067",
          "UMLS:C5975594"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976130"
    },
    {
      "id": 26407,
      "label": "neurodevelopmental disorder with parkinsonism or other movement abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621506"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980990"
    }
  ],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}