{
  "id": 8833,
  "label": "congenital unilateral hypoplasia of depressor anguli oris",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007443",
  "properties": {
    "xrefs": [
      "GARD:0016557",
      "ICD9:759.89",
      "MEDGEN:140911",
      "OMIM:125520",
      "Orphanet:1166",
      "SCTID:51409009",
      "UMLS:C0431406"
    ],
    "synonyms": [
      "isolated asymmetric crying facies",
      "Cayler cardiofacial syndrome",
      "asymmetric crying facies",
      "depressor anguli oris muscle, hypoplasia of",
      "facial paresis, partial, unilateral"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18847,
      "label": "22q11.2 deletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        6778,
        6967,
        16088,
        20971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:16",
          "GARD:0010299",
          "MedDRA:10012979",
          "MedDRA:10066430",
          "NANDO:1200339",
          "NANDO:1200688",
          "NANDO:2200712",
          "NORD:853",
          "Orphanet:567",
          "icd11.foundation:1868156761"
        ],
        "synonyms": [
          "22q11DS",
          "Cayler cardiofacial syndrome",
          "Chromosome 22q11.2 Deletion Syndrome",
          "Sedlackova syndrome",
          "Shprintzen syndrome",
          "Takao syndrome",
          "catch 22",
          "conotruncal anomaly face syndrome",
          "microdeletion 22q11.2",
          "monosomy 22q11",
          "DiGeorge sequence",
          "DiGeorge syndrome",
          "VCFS",
          "velocardiofacial syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency."
      },
      "child_count": 20,
      "reference_id": "MONDO:0018923"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18847,
      "label": "22q11.2 deletion syndrome"
    }
  ]
}