{
  "id": 11871,
  "label": "Simpson-Golabi-Behmel syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010731",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019213",
          "MEDGEN:458929",
          "NCIT:C94828",
          "Orphanet:93460",
          "UMLS:C2986703",
          "icd11.foundation:2113355045"
        ],
        "definition": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
      },
      "child_count": 31,
      "reference_id": "MONDO:0019716"
    }
  ],
  "children": [
    {
      "id": 11439,
      "label": "Simpson-Golabi-Behmel syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        11871
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010265"
    },
    {
      "id": 20037,
      "label": "Simpson-Golabi-Behmel syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        11871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060248",
          "GARD:0025185",
          "MEDGEN:162917",
          "OMIM:312870",
          "UMLS:C0796154"
        ],
        "synonyms": [
          "GPC3 Simpson-Golabi-Behmel syndrome",
          "SGBS1",
          "Simpson dysmorphia syndrome",
          "Simpson-Golabi-Behmel syndrome caused by mutation in GPC3",
          "Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive",
          "bulldog syndrome",
          "Golabi-Rosen syndrome",
          "Sgbs",
          "Simpson-Golabi-Behmel syndrome, type 1",
          "dysplasia gigantism syndrome, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020602"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    }
  ]
}