{
  "id": 13967,
  "label": "chromosome 1q41-q42 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012927",
  "properties": {
    "xrefs": [
      "DOID:0060412",
      "GARD:0003738",
      "MEDGEN:382704",
      "OMIM:612530",
      "Orphanet:250999",
      "SCTID:716515000",
      "UMLS:C2675857"
    ],
    "synonyms": [
      "1q41q42 microdeletion syndrome",
      "Del(1)(q41q42)",
      "chromosome 1q41-q42 deletion syndrome",
      "chromosome 1q41-q42 deletion syndrome, isolated cases",
      "monosomy 1q41-q42",
      "monosomy 1q41q42",
      "1q41-q42 deletion syndrome",
      "deletion 1q41-q42",
      "holoprosencephaly 10"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16852,
      "label": "holoprosencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4427,
        16087,
        18727,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4621",
          "GARD:0006665",
          "ICD10CM:Q04.2",
          "MEDGEN:38214",
          "MESH:D016142",
          "MedDRA:10056304",
          "NANDO:2200819",
          "NCIT:C74988",
          "NORD:1247",
          "OMIMPS:236100",
          "Orphanet:2162",
          "SCTID:30915001",
          "UMLS:C0079541",
          "icd11.foundation:1712699129"
        ],
        "synonyms": [
          "HPE",
          "holoprosencephaly sequence"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity."
      },
      "child_count": 85,
      "reference_id": "MONDO:0016296"
    },
    {
      "id": 20967,
      "label": "chromosome 1q deletion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17291
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008669",
          "MEDGEN:1825942",
          "Orphanet:262001",
          "UMLS:C5679674",
          "icd11.foundation:296620919"
        ],
        "synonyms": [
          "partial deletion of chromosome 1q",
          "partial deletion of the long arm of chromosome 1",
          "partial deletion of the long arm of chromosome type 1",
          "partial monosomy of chromosome 1q",
          "partial monosomy of the long arm of chromosome 1",
          "1q deletion",
          "1q monosomy",
          "deletion 1q",
          "monosomy 1q",
          "partial monosomy 1q"
        ],
        "definition": "Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) 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 1q 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": 4,
      "reference_id": "MONDO:0022756"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16852,
      "label": "holoprosencephaly"
    },
    {
      "id": 20967,
      "label": "chromosome 1q deletion"
    }
  ]
}