{
  "id": 14429,
  "label": "chromosome 1p32-p31 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013396",
  "properties": {
    "xrefs": [
      "DOID:0060409",
      "GARD:0017668",
      "MEDGEN:1636078",
      "Orphanet:401986",
      "SCTID:766766005",
      "UMLS:C4707828"
    ],
    "synonyms": [
      "1p31p32 microdeletion syndrome",
      "Del(1)(p31p32)",
      "chromosome 1p32-p31 deletion syndrome",
      "monosomy 1p31p32",
      "BRMUTD",
      "brain malformations with or without urinary tract defects"
    ],
    "definition": "1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 17308,
      "label": "partial deletion of the short arm of chromosome 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17291
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:208633",
          "MESH:C535591",
          "NCIT:C36501",
          "Orphanet:261857",
          "UMLS:C0795796",
          "icd11.foundation:1004815242"
        ],
        "synonyms": [
          "partial deletion of chromosome 1p",
          "partial deletion of the short arm of chromosome type 1",
          "partial monosomy of chromosome 1p",
          "partial monosomy of the short arm of chromosome 1",
          "1p deletion",
          "1p monosomy",
          "chromosome 1p deletion",
          "del(1p)",
          "deletion 1p",
          "loss of chromosome 1p",
          "monosomy 1p",
          "partial monosomy 1p"
        ],
        "definition": "Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 5,
      "reference_id": "MONDO:0016883"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 17308,
      "label": "partial deletion of the short arm of chromosome 1"
    }
  ]
}