{
  "id": 17701,
  "label": "blepharophimosis - intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017393",
  "properties": {
    "xrefs": [
      "GARD:0010892",
      "MEDGEN:1698793",
      "Orphanet:293642",
      "UMLS:C5229849"
    ],
    "synonyms": [
      "BMRS",
      "SBBYS syndrome",
      "Say Barber Biesecker Young-Simpson syndrome",
      "Young Simpson syndrome",
      "blepharophimosis intellectual disability syndromes",
      "blepharophimosis mental retardation syndromes",
      "blepharophimosis syndrome Ohdo type"
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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": 3111,
      "label": "Ohdo syndrome and variants",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060289",
          "GARD:0022821"
        ],
        "synonyms": [
          "Ohdo blepharophimosis syndrome",
          "Ohdo syndrome"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000734"
    },
    {
      "id": 12537,
      "label": "blepharophimosis - intellectual disability syndrome, Verloes type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017342",
          "MEDGEN:347661",
          "MESH:C565797",
          "OMIM:604314",
          "Orphanet:293725",
          "UMLS:C1858538"
        ],
        "synonyms": [
          "BMRS type V",
          "BMRS, Verloes type",
          "blepharophimosis-intellectual disability syndrome type V",
          "blepharophimosis with facial and genital anomalies and intellectual disability",
          "blepharophimosis with facial and genital anomalies and mental retardation",
          "blepharophimosis-intellectual disability syndrome, Verloes type",
          "blepharophimosis-mental retardation syndrome, Verloes type"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011432"
    },
    {
      "id": 14456,
      "label": "3p- syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17310,
        17701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060417",
          "GARD:0003750",
          "MEDGEN:1643555",
          "MESH:C536804",
          "NCIT:C41377",
          "NORD:951",
          "OMIM:613792",
          "Orphanet:1620",
          "SCTID:763528002",
          "UMLS:C4706503"
        ],
        "synonyms": [
          "3p- syndrome",
          "Chromosome 3, Monosomy 3p",
          "chromosome 3pter-p25 deletion syndrome",
          "distal 3p deletion",
          "distal monosomy 3p",
          "distal monosomy type 3p",
          "monosomy 3pter",
          "telomeric monosomy 3p",
          "3p deletion",
          "3p monosomy",
          "Del(3p) syndrome",
          "chromosome 3, monosomy 3p25",
          "chromosome 3p deletion",
          "chromosome 3p- syndrome",
          "del(3p25)",
          "deletion 3p",
          "deletion 3p25",
          "monosomy 3p",
          "partial monosomy 3p"
        ],
        "definition": "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013424"
    },
    {
      "id": 26307,
      "label": "ADNP-related blepharophimosis-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        17701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700160"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979360"
    }
  ],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}