{
  "id": 24345,
  "label": "SOX11-related complex neurodevelopmental disorder with or without congenital anomalies",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100626",
  "properties": {
    "xrefs": [
      "GARD:0028004"
    ],
    "synonyms": [
      "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal dominant disorder caused by pathogenic variation in SOX11 characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits. Individuals with variants in SOX11 have a \"unique peripheral blood DNA methylation signature as a diagnostic biomarker and phenotypic clustering analysis that distinguishes SOX11 syndrome from BAFopathies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 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": 24191,
      "label": "complex neurodevelopmental disorder with or without congenital anomalies"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}