{
  "id": 10118,
  "label": "Barber-Say syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008853",
  "properties": {
    "xrefs": [
      "DOID:0060549",
      "GARD:0000819",
      "MEDGEN:230818",
      "MESH:C537908",
      "NORD:875",
      "OMIM:209885",
      "Orphanet:1231",
      "SCTID:408537003",
      "UMLS:C1319466",
      "icd11.foundation:37248895"
    ],
    "synonyms": [
      "Barber-Say syndrome",
      "Brown Séquard Syndrome",
      "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome",
      "BARBER-SAY syndrome",
      "BBRSAY",
      "Barber Say syndrome",
      "Bss",
      "hypertrichosis atrophic skin ectropion macrostomia",
      "hypertrichosis, atrophic skin, ectropion, and macrostomia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3562,
      "label": "hypertrichosis of eyelid",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5315,
        19135
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11669",
          "ICD10CM:H02.86",
          "ICD9:374.54",
          "MEDGEN:509853",
          "SCTID:79830009",
          "UMLS:C0155213",
          "icd11.foundation:1623148241"
        ],
        "synonyms": [
          "eyelid hypertrichosis (disease)",
          "hypertrichosis (disease) of eyelid"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A hypertrichosis (disease) that involves the eyelid."
      },
      "child_count": 2,
      "reference_id": "MONDO:0001334"
    },
    {
      "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": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    },
    {
      "id": 19755,
      "label": "congenital entropion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3727
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q10.2",
          "MEDGEN:540011",
          "MedDRA:10014923",
          "Orphanet:98568",
          "SCTID:20392000",
          "UMLS:C0266579"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0020159"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3562,
      "label": "hypertrichosis of eyelid"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 19755,
      "label": "congenital entropion"
    }
  ]
}