{
  "id": 12020,
  "label": "2q37 microdeletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010886",
  "properties": {
    "xrefs": [
      "DECIPHER:44",
      "DOID:0111704",
      "GARD:0010202",
      "ICD9:758.39",
      "MEDGEN:419169",
      "MESH:C538317",
      "NCIT:C129021",
      "OMIM:600430",
      "Orphanet:1001",
      "SCTID:702357000",
      "UMLS:C2931817"
    ],
    "synonyms": [
      "2q37 microdeletion syndrome",
      "2q37 monosomy",
      "Albright hereditary osteodystrophy type 3",
      "Albright hereditary osteodystrophy-like syndrome",
      "BDMR",
      "Del(2)(q37)",
      "brachydactyly intellectual disability syndrome",
      "brachydactyly mental retardation syndrome",
      "brachydactyly-intellectual disability syndrome",
      "deletion 2q37",
      "deletion 2q37-qter",
      "monosomy 2q37-qter",
      "2q37 deletion syndrome",
      "brachydactyly-mental retardation syndrome",
      "chromosome 2q37 deletion syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17320,
      "label": "partial deletion of the long arm of chromosome 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:162770",
          "MESH:C538315",
          "Orphanet:262010",
          "UMLS:C0795804",
          "icd11.foundation:754787315"
        ],
        "synonyms": [
          "partial deletion of chromosome 2q",
          "partial deletion of the long arm of chromosome type 2",
          "partial monosomy of chromosome 2q",
          "partial monosomy of the long arm of chromosome 2",
          "2q deletion",
          "2q monosomy",
          "chromosome 2q deletion",
          "deletion 2q",
          "monosomy 2q",
          "partial monosomy 2q"
        ],
        "definition": "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. 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 2q 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": 9,
      "reference_id": "MONDO:0016901"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17320,
      "label": "partial deletion of the long arm of chromosome 2"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}