{
  "id": 8554,
  "label": "aplasia cutis congenita",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007145",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19143,
      "label": "mixed dermis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20387
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842502",
          "Orphanet:79380",
          "UMLS:C5681484"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019294"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 12116,
      "label": "aplasia cutis-myopia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8554
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010988"
    },
    {
      "id": 20774,
      "label": "aplasia cutis autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8554
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Aplasia cutis with autosomal recessive inheritance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021907"
    },
    {
      "id": 20775,
      "label": "aplasia cutis congenita dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8554
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021908"
    }
  ],
  "roots": [
    {
      "id": 19143,
      "label": "mixed dermis disorder"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}