{
  "id": 18128,
  "label": "9p13 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017928",
  "properties": {
    "xrefs": [
      "GARD:0021437",
      "MEDGEN:1635922",
      "Orphanet:324313",
      "SCTID:764725008",
      "UMLS:C4707097"
    ],
    "synonyms": [
      "Del(9)(p13)",
      "monosomy 9p13"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3324,
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050888",
          "MEDGEN:1842178",
          "UMLS:C5680525"
        ],
        "synonyms": [
          "syndrome associated with intellectual disability",
          "syndromic intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A intellectual disability that is part of a larger syndrome."
      },
      "child_count": 34,
      "reference_id": "MONDO:0000508"
    },
    {
      "id": 9339,
      "label": "chromosome 9p deletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17299
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060732",
          "GARD:0003773",
          "ICD9:758.39",
          "MEDGEN:167073",
          "MESH:C538024",
          "OMIM:158170",
          "Orphanet:261112",
          "SCTID:62599000",
          "UMLS:C0795830"
        ],
        "synonyms": [
          "9p deletion",
          "9p deletion syndrome",
          "9p monosomy",
          "9p- syndrome",
          "Alfi syndrome",
          "chromosome 9p deletion",
          "deletion 9p",
          "monosomy 9p",
          "monosomy 9p syndrome",
          "monosomy type 9p",
          "partial deletion of chromosome 9p",
          "partial deletion of the short arm of chromosome 9",
          "partial deletion of the short arm of chromosome type 9",
          "partial monosomy 9p",
          "partial monosomy of chromosome 9p",
          "partial monosomy of the short arm of chromosome 9"
        ],
        "definition": "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008013"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability"
    },
    {
      "id": 9339,
      "label": "chromosome 9p deletion syndrome"
    }
  ]
}