{
  "id": 8803,
  "label": "Beare-Stevenson cutis gyrata syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007412",
  "properties": {
    "xrefs": [
      "DOID:0050660",
      "GARD:0000332",
      "ICD9:759.89",
      "MEDGEN:377668",
      "MESH:C565129",
      "NCIT:C123813",
      "OMIM:123790",
      "Orphanet:1555",
      "SCTID:703528008",
      "UMLS:C1852406",
      "icd11.foundation:947865461"
    ],
    "synonyms": [
      "Beare-Stevenson cutis gyrata syndrome",
      "BSTVS",
      "Beare Stevenson syndrome",
      "Beare-Stevenson syndrome",
      "cutis gyrata - acanthosis nigricans - craniosynostosis",
      "cutis gyrata syndrome of Beare and Stevenson",
      "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 16201,
      "label": "syndromic craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16310,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019911",
          "MEDGEN:1842203",
          "Orphanet:139393",
          "UMLS:C5680624"
        ],
        "synonyms": [
          "syndrome associated with craniosynostosis",
          "syndromic craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A craniosynostosis that is part of a larger syndrome."
      },
      "child_count": 120,
      "reference_id": "MONDO:0015338"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 16201,
      "label": "syndromic craniosynostosis"
    }
  ]
}