{
  "id": 12116,
  "label": "aplasia cutis-myopia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010988",
  "properties": {
    "xrefs": [
      "GARD:0000756",
      "MEDGEN:331375",
      "MESH:C563394",
      "OMIM:601075",
      "Orphanet:1117",
      "SCTID:720499004",
      "UMLS:C1832826"
    ],
    "synonyms": [
      "Gershoni-Baruch-Leibo syndrome",
      "aplasia cutis myopia",
      "aplasia cutis congenita, high myopia, and cone-rod dysfunction"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8554,
      "label": "aplasia cutis congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19143,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080661",
          "GARD:0005835",
          "HP:0001057",
          "ICD9:757.39",
          "MEDGEN:79390",
          "NCIT:C98822",
          "NORD:794",
          "OMIM:107600",
          "Orphanet:1114",
          "SCTID:35484002",
          "UMLS:C0282160",
          "icd11.foundation:350175828"
        ],
        "synonyms": [
          "aplasia cutis congenita",
          "aplasia cutis congenita (disease)",
          "aplasia cutis congenita recessive",
          "ACC",
          "aplasia cutis congenita nonsyndromic",
          "aplasia cutis congenita, nonsyndromic",
          "congenital defect of skull and scalp",
          "scalp defect congenital",
          "scalp defect, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies."
      },
      "child_count": 6,
      "reference_id": "MONDO:0007145"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8554,
      "label": "aplasia cutis congenita"
    }
  ]
}