{
  "id": 19508,
  "label": "lobar holoprosencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019756",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16852,
      "label": "holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        16087,
        18727,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4621",
          "GARD:0006665",
          "ICD10CM:Q04.2",
          "MEDGEN:38214",
          "MESH:D016142",
          "MedDRA:10056304",
          "NANDO:2200819",
          "NCIT:C74988",
          "NORD:1247",
          "OMIMPS:236100",
          "Orphanet:2162",
          "SCTID:30915001",
          "UMLS:C0079541",
          "icd11.foundation:1712699129"
        ],
        "synonyms": [
          "HPE",
          "holoprosencephaly sequence"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity."
      },
      "child_count": 85,
      "reference_id": "MONDO:0016296"
    }
  ],
  "children": [
    {
      "id": 13378,
      "label": "holoprosencephaly 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17558,
        19508,
        19509
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012322"
    },
    {
      "id": 13610,
      "label": "holoprosencephaly 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17558,
        19508,
        19509
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012563"
    }
  ],
  "roots": [
    {
      "id": 16852,
      "label": "holoprosencephaly"
    }
  ]
}