{
  "id": 23791,
  "label": "complex neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100038",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 24488,
      "label": "neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 18,
      "reference_id": "MONDO:0700092"
    }
  ],
  "children": [
    {
      "id": 3009,
      "label": "pervasive developmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7159,
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060040",
          "GARD:0027041",
          "ICD9:299.80",
          "MEDGEN:99336",
          "MESH:D002659",
          "NCIT:C97179",
          "SCTID:35919005",
          "UMLS:C0524528"
        ],
        "synonyms": [
          "pervasive child development disorders",
          "pervasive development disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions."
      },
      "child_count": 10,
      "reference_id": "MONDO:0000594"
    },
    {
      "id": 9606,
      "label": "Prader-Willi syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        16088,
        16526,
        18950,
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11983",
          "GARD:0005575",
          "ICD10CM:Q87.11",
          "ICD9:759.81",
          "MEDGEN:46057",
          "MESH:D011218",
          "MedDRA:10036476",
          "NANDO:1200678",
          "NANDO:2200411",
          "NCIT:C75463",
          "NORD:1602",
          "OMIM:176270",
          "Orphanet:739",
          "SCTID:89392001",
          "UMLS:C0032897",
          "icd11.foundation:393773440"
        ],
        "synonyms": [
          "Prader-Labhart-Willi syndrome",
          "Prader-Willi syndrome",
          "Prader-Willi-Labhart syndrome",
          "Willi-Prader syndrome",
          "PWS",
          "Prader-Willi syndrome chromosome region",
          "Prader-Willi-like syndrome associated with chromosome 6",
          "obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet",
          "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems."
      },
      "child_count": 35,
      "reference_id": "MONDO:0008300"
    },
    {
      "id": 15481,
      "label": "intellectual disability, autosomal dominant 29",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070059",
          "GARD:0013379",
          "MEDGEN:863578",
          "NORD:1958",
          "OMIM:616078",
          "UMLS:C4015141"
        ],
        "synonyms": [
          "MRD29",
          "SETBP1 Haploinsufficiency Disorder",
          "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome",
          "SETBP1-related complex neurodevelopmental disorder",
          "autosomal dominant intellectual disability 29",
          "autosomal dominant mental retardation 29",
          "intellectual disability, autosomal dominant type 29",
          "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1",
          "mental retardation, autosomal dominant type 29",
          "SETBP1 disorder",
          "SETBP1 related developmental delay",
          "SETBP1-related disorder",
          "SETBP1-related intellectual disability",
          "mental retardation, autosomal dominant 29"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant complex neurodevelopmental disorder caused by haploinsufficiency and/or loss-of-function variants in the SETBP1 gene and characterized by intellectual disability, autism, speech difficulty, motor and developmental delays, seizures, hypotonia, behavior challenges, and facial dysmorphisms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014482"
    },
    {
      "id": 21836,
      "label": "neurodevelopmental disorder with language impairment and behavioral abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027923",
          "MEDGEN:1708389",
          "OMIM:618917",
          "UMLS:C5394502"
        ],
        "synonyms": [
          "GRIA2-related complex neurodevelopmental disorder",
          "NEDLIB",
          "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES",
          "neurodevelopmental disorder with language impairment and behavioral abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030060"
    },
    {
      "id": 23711,
      "label": "neurodevelopmental disorder with severe motor impairment and absent language",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013608",
          "MEDGEN:1622162",
          "OMIM:617804",
          "Orphanet:647788",
          "UMLS:C4540496"
        ],
        "synonyms": [
          "DHX30-related complex neurodevelopmental disorder",
          "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome",
          "neurodevelopmental disorder with severe motor impairment and absent language",
          "NEDMIAL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual disability, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility"
      },
      "child_count": 0,
      "reference_id": "MONDO:0060622"
    },
    {
      "id": 23890,
      "label": "X-linked complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027063"
        ],
        "synonyms": [
          "X-linked complex neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100148"
    },
    {
      "id": 24183,
      "label": "neonatal encephalopathy with non-epileptic myoclonus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027065"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100456"
    },
    {
      "id": 24191,
      "label": "complex neurodevelopmental disorder with or without congenital anomalies",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027066"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100465"
    },
    {
      "id": 24241,
      "label": "complex neurodevelopmental disorder with motor features",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027067"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100516"
    },
    {
      "id": 24276,
      "label": "AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027068"
        ],
        "synonyms": [
          "AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss",
          "SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder related to biallelic variants in AFG2B and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100551"
    },
    {
      "id": 24340,
      "label": "developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761,
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027373",
          "MEDGEN:1830477",
          "UMLS:C5779964"
        ],
        "synonyms": [
          "DEE",
          "developmental and epileptic encephalopathy",
          "infantile spasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy associated with developmental impairment that may be due to either the underlying etiology or the superimposed epileptic activity, or both."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100620"
    },
    {
      "id": 25027,
      "label": "syndromic complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027071"
        ],
        "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), and also a distinctive pattern of other features including dysmorphisms and/or congenital malformations."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800439"
    },
    {
      "id": 25031,
      "label": "DEAF1-associated neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027072"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively."
      },
      "child_count": 4,
      "reference_id": "MONDO:0800443"
    },
    {
      "id": 25059,
      "label": "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3324,
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027073"
        ],
        "synonyms": [
          "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800475"
    },
    {
      "id": 29312,
      "label": "GRIN-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23791,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028156"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved."
      },
      "child_count": 8,
      "reference_id": "MONDO:1060138"
    }
  ],
  "roots": [
    {
      "id": 24488,
      "label": "neurodevelopmental disorder"
    }
  ]
}