{
  "id": 20844,
  "label": "congenital absence of septum pellucidum",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0022349",
  "properties": {
    "xrefs": [
      "GARD:0009253",
      "ICD9:742.4",
      "MEDGEN:96561",
      "MESH:C535562",
      "SCTID:253143001",
      "UMLS:C0431371"
    ],
    "synonyms": [
      "absence of septum pellucidum"
    ],
    "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": "The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9723,
      "label": "septooptic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905,
        4370,
        14137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060857",
          "GARD:0007627",
          "MEDGEN:90926",
          "MESH:D025962",
          "MedDRA:10067159",
          "NANDO:1200560",
          "NANDO:1200561",
          "NANDO:2200820",
          "NCIT:C85063",
          "OMIM:182230",
          "Orphanet:3157",
          "SCTID:7611002",
          "UMLS:C0338503"
        ],
        "synonyms": [
          "De Morsier syndrome",
          "SOD",
          "septo-optic dysplasia",
          "septo-optic dysplasia sequence",
          "septooptic dysplasia",
          "Growth hormone deficiency with pituitary anomalies",
          "hypopituitarism and septooptic 'dysplasia'",
          "pituitary hormone deficiency, combined, 5",
          "septo-optic dysplasia spectrum",
          "septo-optic dysplasia with growth hormone deficiency"
        ],
        "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": "Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008428"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9723,
      "label": "septooptic dysplasia"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}