{
  "id": 13378,
  "label": "holoprosencephaly 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012322",
  "properties": {
    "xrefs": [
      "DOID:0110878",
      "GARD:0024860",
      "MEDGEN:355304",
      "MESH:C566464",
      "NCIT:C75460",
      "OMIM:609637",
      "UMLS:C1864827"
    ],
    "synonyms": [
      "HPE5",
      "ZIC2 holoprosencephaly",
      "holoprosencephaly 5",
      "holoprosencephaly caused by mutation in ZIC2",
      "holoprosencephaly type 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Holoprosencephaly associated with mutations in the ZIC2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17558,
      "label": "microform holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111380",
          "GARD:0017290",
          "MEDGEN:1711978",
          "Orphanet:280200",
          "UMLS:C5393309",
          "icd11.foundation:44293173"
        ],
        "synonyms": [
          "HPE, minor form",
          "HPE-L",
          "HoloprosencC)phalie, minor form",
          "Holoprosencéphalie, minor form",
          "Microform HPE",
          "holoprosencephaly-like"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017219"
    },
    {
      "id": 19508,
      "label": "lobar holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016830",
          "MEDGEN:96559",
          "Orphanet:93924",
          "SCTID:253136007",
          "UMLS:C0431362",
          "icd11.foundation:121649206"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019756"
    },
    {
      "id": 19509,
      "label": "alobar holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16852
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016831",
          "MEDGEN:140909",
          "Orphanet:93925",
          "SCTID:253137003",
          "UMLS:C0431363",
          "icd11.foundation:381193163"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019757"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17558,
      "label": "microform holoprosencephaly"
    },
    {
      "id": 19508,
      "label": "lobar holoprosencephaly"
    },
    {
      "id": 19509,
      "label": "alobar holoprosencephaly"
    }
  ]
}