{
  "id": 23146,
  "label": "pagon stephan syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0043162",
  "properties": {
    "xrefs": [
      "GARD:0004195",
      "MEDGEN:419885",
      "MESH:C538100",
      "UMLS:C2931733"
    ],
    "synonyms": [
      "septo-optic dysplasia with digital anomalies"
    ],
    "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"
      }
    ]
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9723,
      "label": "septooptic dysplasia"
    }
  ]
}