{
  "id": 23985,
  "label": "multiple congenital anomalies-hypotonia-seizures syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100247",
  "properties": {
    "xrefs": [
      "DOID:0080503",
      "GARD:0026096",
      "MEDGEN:1683744",
      "OMIMPS:614080",
      "UMLS:C5191419"
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 11625,
      "label": "multiple congenital anomalies-hypotonia-seizures syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16198,
        16607,
        17977,
        23814,
        23985
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080139",
          "GARD:0012777",
          "MEDGEN:477139",
          "OMIM:300868",
          "Orphanet:300496",
          "UMLS:C3275508"
        ],
        "synonyms": [
          "DEE20",
          "GPIBD4",
          "MCAHS type 2",
          "MCAHS2",
          "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
          "developmental and epileptic encephalopathy 20",
          "epileptic encephalopathy, early infantile, 20",
          "glycosylphosphatidylinositol biosynthesis defect 4",
          "multiple congenital anomalies-hypotonia-seizures syndrome 2",
          "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive",
          "multiple congenital anomalies-hypotonia-seizures syndrome type 2",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010466"
    },
    {
      "id": 14591,
      "label": "multiple congenital anomalies-hypotonia-seizures syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16198,
        17977,
        23985
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080138",
          "GARD:0012781",
          "MEDGEN:481405",
          "NCIT:C176896",
          "OMIM:614080",
          "Orphanet:280633",
          "UMLS:C3279775"
        ],
        "synonyms": [
          "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
          "PIGN-CDG",
          "congenital disorder of glycosylation due to PIGN deficiency",
          "inherited GPI anchor-deficiency",
          "multiple congenital anomalies-hypotonia-seizures syndrome 1",
          "multiple congenital anomalies-hypotonia-seizures syndrome type 1",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN",
          "PIGN-related inherited GPI deficiency",
          "MCAHS1",
          "glycosylphosphatidylinositol biosynthesis defect 3",
          "multiple congenital anomalies - hypotonia - seizures syndrome",
          "multiple congenital anomalies-hypotonia-seizures syndrome"
        ],
        "definition": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013563"
    },
    {
      "id": 15172,
      "label": "multiple congenital anomalies-hypotonia-seizures syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6893,
        16198,
        17977,
        23985
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080140",
          "GARD:0017584",
          "MEDGEN:815686",
          "MESH:C566367",
          "OMIM:603530",
          "OMIM:615398",
          "Orphanet:369837",
          "UMLS:C3809356"
        ],
        "synonyms": [
          "LFSS",
          "MCAHS type 3",
          "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
          "PIGT-CDG",
          "congenital disorder of glycosylation due to PIGT deficiency",
          "multiple congenital anomalies-hypotonia-seizures syndrome 3",
          "multiple congenital anomalies-hypotonia-seizures syndrome type 3",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT",
          "M syndrome",
          "MCAHS3",
          "glycosylphosphatidylinositol biosynthesis defect 7",
          "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014165"
    },
    {
      "id": 22465,
      "label": "developmental and epileptic encephalopathy, 77",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        4594,
        16198,
        21353,
        23814,
        23985
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112213",
          "GARD:0016363",
          "MEDGEN:1684735",
          "OMIM:618548",
          "UMLS:C5231405"
        ],
        "synonyms": [
          "DEE77",
          "EIEE77",
          "epileptic encephalopathy, early infantile, 77",
          "multiple congenital anomalies-hypotonia-seizures syndrome 4",
          "glycosylphosphatidylinositol biosynthesis defect 19"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032808"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}