{
  "id": 14456,
  "label": "3p- syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013424",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17310,
      "label": "partial deletion of the short arm of chromosome 3",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17293
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826020",
          "Orphanet:261875",
          "UMLS:C5679666",
          "icd11.foundation:551346575"
        ],
        "synonyms": [
          "partial deletion of chromosome 3p",
          "partial deletion of the short arm of chromosome type 3",
          "partial monosomy of chromosome 3p",
          "partial monosomy of the short arm of chromosome 3"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016885"
    },
    {
      "id": 17701,
      "label": "blepharophimosis - intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16087
      ],
      "type_id": 0,
      "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"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017393"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17310,
      "label": "partial deletion of the short arm of chromosome 3"
    },
    {
      "id": 17701,
      "label": "blepharophimosis - intellectual disability syndrome"
    }
  ]
}