{
  "id": 3009,
  "label": "pervasive developmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000594",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7159,
      "label": "developmental disorder of mental health",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6812
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060037",
          "EFO:0005548",
          "ICD9:315.8",
          "MEDGEN:688110",
          "SCTID:129104009",
          "UMLS:C1263839"
        ],
        "synonyms": [
          "developmental disorder of mental health",
          "developmental mental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development."
      },
      "child_count": 2,
      "reference_id": "MONDO:0005503"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 6961,
      "label": "autism spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3009
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060041",
          "EFO:0003756",
          "MEDGEN:307153",
          "NCIT:C88412",
          "Orphanet:106",
          "SCTID:408856003",
          "UMLS:C1510586",
          "icd11.foundation:437815624"
        ],
        "synonyms": [
          "autism spectrum disorder",
          "autistic spectrum disorder",
          "pervasive developmental disorder - not otherwise specified",
          "pervasive developmental disorders",
          "atypical autism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors."
      },
      "child_count": 5,
      "reference_id": "MONDO:0005258"
    },
    {
      "id": 11866,
      "label": "Rett syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3009,
        4370,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1206",
          "GARD:0005696",
          "ICD9:330.8",
          "MEDGEN:48441",
          "MESH:D015518",
          "MedDRA:10039000",
          "NANDO:1200603",
          "NANDO:1200604",
          "NANDO:2100219",
          "NANDO:2200825",
          "NCIT:C75488",
          "NORD:1666",
          "OMIM:312750",
          "Orphanet:778",
          "SCTID:68618008",
          "UMLS:C0035372",
          "icd11.foundation:201200685"
        ],
        "synonyms": [
          "RTS",
          "RTT",
          "Rett syndrome",
          "Rett syndrome, X-linked dominant",
          "Rett syndrome, atypical, X-linked dominant",
          "Rett syndrome, preserved speech variant, X-linked dominant",
          "Rett’s disease",
          "Rett syndrome, Zappella variant",
          "Rett syndrome, atypical",
          "Rett syndrome, preserved speech variant",
          "autism, dementia, ataxia, and loss of purposeful hand use"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A severe neurodevelopmental disorder affecting the central nervous system."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010726"
    },
    {
      "id": 16450,
      "label": "childhood disintegrative disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3009
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13487",
          "GARD:0006040",
          "ICD9:299.1",
          "MEDGEN:472967",
          "MedDRA:10008522",
          "NCIT:C97164",
          "Orphanet:168782",
          "SCTID:61831009",
          "SCTID:71961003",
          "UMLS:C0236791",
          "icd11.foundation:1460615954"
        ],
        "synonyms": [
          "childhood disintegrative disease",
          "dementia infantilis",
          "disintegrative psychosis",
          "heller syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015681"
    },
    {
      "id": 16687,
      "label": "atypical autism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3009
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060042",
          "GARD:0020336",
          "ICD9:299.80",
          "MEDGEN:572882",
          "MedDRA:10003747",
          "Orphanet:199627",
          "SCTID:231536004",
          "UMLS:C0338986",
          "icd11.foundation:2136163538"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '"
      },
      "child_count": 0,
      "reference_id": "MONDO:0016052"
    },
    {
      "id": 23793,
      "label": "FOXG1 disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3009,
        4427,
        17975,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070657",
          "GARD:0026022",
          "ICD10CM:F84.8",
          "MEDGEN:462055",
          "NCIT:C176903",
          "OMIM:613454",
          "Orphanet:561854",
          "Orphanet:598164",
          "UMLS:C3150705"
        ],
        "synonyms": [
          "FOXG1 disorder",
          "FOXG1 inherited genetic disease",
          "FOXG1 syndrome",
          "FOXG1 syndrome due to intragenic alteration",
          "FOXG1-related epileptic-dyskinetic encephalopathy",
          "Rett syndrome, congenital variant",
          "inherited genetic disease caused by mutation in FOXG1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A monogenic disease that has material basis in mutation in the FOXG1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100040"
    }
  ],
  "roots": [
    {
      "id": 7159,
      "label": "developmental disorder of mental health"
    },
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder"
    }
  ]
}