{
  "id": 11439,
  "label": "Simpson-Golabi-Behmel syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010265",
  "properties": {
    "xrefs": [
      "DOID:0080342",
      "GARD:0024715",
      "MEDGEN:337527",
      "MESH:C564567",
      "OMIM:300209",
      "Orphanet:79022",
      "UMLS:C1846175"
    ],
    "synonyms": [
      "OFD1 Simpson-Golabi-Behmel syndrome",
      "SGBS2",
      "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1",
      "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive",
      "lethal variant of Simpson-Golabi-Behmel syndrome",
      "Sgbs2",
      "Simpson-Golabi-Behmel syndrome, type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 11871,
      "label": "Simpson-Golabi-Behmel syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007649",
          "ICD9:759.89",
          "MEDGEN:1387611",
          "MESH:C537340",
          "NANDO:2200978",
          "NCIT:C131002",
          "NORD:1717",
          "Orphanet:373",
          "SCTID:439143004",
          "UMLS:C4317043",
          "icd11.foundation:181316558"
        ],
        "synonyms": [
          "DGSX",
          "Golabi-Rosen syndrome",
          "SDYS",
          "SGB syndrome",
          "SGBS",
          "Sara Angers syndrome",
          "Simpson-Golabi-Behmel syndrome",
          "X-linked dysplasia gigantism syndrome",
          "Sgbs",
          "dysplasia gigantism syndrome, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010731"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 11871,
      "label": "Simpson-Golabi-Behmel syndrome"
    }
  ]
}