{
  "id": 13610,
  "label": "holoprosencephaly 9",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012563",
  "properties": {
    "xrefs": [
      "DOID:0110873",
      "GARD:0024875",
      "MEDGEN:324369",
      "OMIM:610829",
      "UMLS:C1835819"
    ],
    "synonyms": [
      "GLI2 holoprosencephaly",
      "HPE9",
      "holoprosencephaly 9",
      "holoprosencephaly caused by mutation in GLI2",
      "holoprosencephaly type 9",
      "holoprosencephaly with microphthalmia and first branchial arch anomalies",
      "pituitary anomalies with holoprosencephaly-like features",
      "holoprosencephaly with microphthalmia and first branchial Arch anomalies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 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"
    }
  ]
}