{
  "id": 11399,
  "label": "CHIME syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010221",
  "properties": {
    "xrefs": [
      "DOID:0112152",
      "GARD:0000310",
      "MEDGEN:341214",
      "MESH:C536729",
      "OMIM:280000",
      "Orphanet:3474",
      "SCTID:720639008",
      "UMLS:C1848392"
    ],
    "synonyms": [
      "CHIME syndrome",
      "PIGL-CDG",
      "Zunich-Kaye syndrome",
      "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome",
      "congenital disorder of glycosylation due to PIGL deficiency",
      "neuroectodermal dysplasia, CHIME type",
      "neuroectodermal syndrome, Zunich type",
      "CHIME",
      "Zunich neuroectodermal syndrome",
      "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome",
      "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome",
      "glycosylphosphatidylinositol biosynthesis defect 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 17977,
      "label": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        16168,
        21353
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021342",
          "MEDGEN:1842274",
          "Orphanet:309515",
          "UMLS:C5679954"
        ],
        "synonyms": [
          "disorder of glycosphingolipid and GPI-anchored proteins glycosylation",
          "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0017748"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    },
    {
      "id": 21415,
      "label": "disorder of visual system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "SCTID:128127008"
        ],
        "synonyms": [
          "disease of visual system",
          "disease or disorder of visual system",
          "disorder of visual system",
          "visual system disease",
          "visual system disease or disorder",
          "visual system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease that involves the visual system."
      },
      "child_count": 30,
      "reference_id": "MONDO:0024458"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 17977,
      "label": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 21415,
      "label": "disorder of visual system"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}