{
  "id": 24036,
  "label": "PAX5-related B lymphopenia and autism spectrum disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100299",
  "properties": {
    "xrefs": [
      "GARD:0026131"
    ],
    "synonyms": [
      "hypogammaglobulinemia and autism spectrum disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4332,
      "label": "B cell deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        6569,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2115",
          "GARD:0023084",
          "ICD9:279.03",
          "MEDGEN:340780",
          "NCIT:C4799",
          "UMLS:C1855067"
        ],
        "synonyms": [
          "B-cell deficiency",
          "deficiency of humoral immunity",
          "immunoglobulin heavy chain deficiency",
          "immunoglobulin heavy chain deletion"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient."
      },
      "child_count": 15,
      "reference_id": "MONDO:0002211"
    },
    {
      "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4332,
      "label": "B cell deficiency"
    },
    {
      "id": 6961,
      "label": "autism spectrum disorder"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}