{
  "id": 15643,
  "label": "developmental and epileptic encephalopathy, 50",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014647",
  "properties": {
    "xrefs": [
      "DOID:0080419",
      "GARD:0013621",
      "MEDGEN:904125",
      "OMIM:616457",
      "Orphanet:448010",
      "UMLS:C4225320"
    ],
    "synonyms": [
      "CAD-CDG",
      "CDG syndrome type Iz",
      "CDG-Iz",
      "CDG1Z",
      "DEE50",
      "EIEE50",
      "carbohydrate deficient glycoprotein syndrome type Iz",
      "congenital disorder of glycosylation type 1z",
      "developmental and epileptic encephalopathy 50",
      "epileptic encephalopathy, early infantile, 50",
      "congenital disorder of glycosylation, type Iz",
      "congenital disorder of glycosylation, type Iz, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 7156,
      "label": "congenital disorder of glycosylation type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050570",
          "EFO:0005545",
          "GARD:0024196",
          "MEDGEN:1684618",
          "OMIMPS:212065",
          "UMLS:C4700504"
        ],
        "synonyms": [
          "congenital disorders of glycosylation, type I",
          "ALG1-CDG",
          "ALG1-CDG (CDG-1k)",
          "ALG11-CDG",
          "ALG11-CDG (CDG-1p)",
          "ALG12-CDG",
          "ALG12-CDG (CDG-1g)",
          "ALG2-CDG",
          "ALG2-CDG (CDG-1i)",
          "ALG3-CDG",
          "ALG3-CDG (CDG-1d)",
          "ALG6-CDG",
          "ALG6-CDG (CDG-1c)",
          "ALG8-CDG",
          "ALG8-CDG (CDG-1h)",
          "ALG9-CDG",
          "ALG9-CDG (CDG-1l)",
          "DOLK-CDG",
          "DOLK-CDG (CDG-1m)",
          "DPAGT1-CDG",
          "DPAGT1-CDG (CDG-1j)",
          "DPM1-CDG",
          "DPM1-CDG (CDG-1e)",
          "DPM2-CDG",
          "DPM2-CDG (CDG-1u)",
          "DPM3-CDG",
          "DPM3-CDG (CDG-1o)",
          "MPDU1-CDG",
          "MPDU1-CDG (CDG-1f)",
          "MPI-CDG",
          "MPI-CDG (CDG-1b)",
          "PMM2-CDG",
          "PMM2-CDG (CDG-1a)",
          "RFT1-CDG",
          "RFT1-CDG (CDG-1n)",
          "SRD5A3-CDG",
          "SRD5A3-CDG (CDG-1q)"
        ],
        "definition": "A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor."
      },
      "child_count": 28,
      "reference_id": "MONDO:0005500"
    },
    {
      "id": 17978,
      "label": "disorder of multiple glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021343",
          "MEDGEN:1843364",
          "Orphanet:309526",
          "UMLS:C5681039",
          "icd11.foundation:684473574"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0017749"
    },
    {
      "id": 19102,
      "label": "inborn disorder of pyrimidine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19115,
        22988
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050832",
          "GARD:0018967",
          "MEDGEN:541208",
          "MedDRA:10070969",
          "Orphanet:79193",
          "UMLS:C0268127",
          "icd11.foundation:771608363"
        ],
        "synonyms": [
          "inborn error of pyrimidine nucleobase metabolic process",
          "inborn pyrimidine nucleobase metabolic process disorder",
          "pyrimidine metabolic disorder",
          "rare inborn error of pyrimidine nucleobase metabolic process",
          "disorder of pyrimidine metabolism"
        ],
        "definition": "ANPM"
      },
      "child_count": 18,
      "reference_id": "MONDO:0019238"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226,
        24340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112202",
          "GARD:0009255",
          "ICD9:345.10",
          "NANDO:1200593",
          "NCIT:C122814",
          "OMIMPS:308350"
        ],
        "synonyms": [
          "developmental and epileptic encephalopathy",
          "hereditary developmental and epileptic encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity."
      },
      "child_count": 210,
      "reference_id": "MONDO:0100062"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 7156,
      "label": "congenital disorder of glycosylation type I"
    },
    {
      "id": 17978,
      "label": "disorder of multiple glycosylation"
    },
    {
      "id": 19102,
      "label": "inborn disorder of pyrimidine metabolism"
    },
    {
      "id": 23814,
      "label": "genetic developmental and epileptic encephalopathy"
    }
  ]
}