{
  "id": 12010,
  "label": "recessive aplasia cutis congenita of limbs",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010876",
  "properties": {
    "xrefs": [
      "GARD:0000754",
      "MEDGEN:324970",
      "MESH:C536840",
      "OMIM:600360",
      "Orphanet:1115",
      "SCTID:723500009",
      "UMLS:C1838206"
    ],
    "synonyms": [
      "aplasia cutis congenita of limbs recessive",
      "aplasia cutis congenita of limbs, autosomal recessive",
      "congenital absence of skin on the upper or lower limbs",
      "recessive aplasia cutis congenita of the limbs"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19143,
      "label": "mixed dermis disorder"
    }
  ]
}