{
  "id": 10069,
  "label": "nonsyndromic congenital nail disorder 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008798",
  "properties": {
    "xrefs": [
      "DOID:0050643",
      "DOID:0080082",
      "GARD:0016837",
      "MEDGEN:479530",
      "MESH:C536377",
      "OMIM:206800",
      "Orphanet:94150",
      "UMLS:C3277900"
    ],
    "synonyms": [
      "RSPO4 isolated congenital anonychia",
      "isolated congenital anonychia caused by mutation in RSPO4",
      "nail disorder, nonsyndromic congenital, type 4",
      "nonsyndromic congenital nail disorder 4",
      "nonsyndromic congenital nail disorder type 4",
      "NDNC4",
      "anonychia congenita",
      "anonychia congenita totalis",
      "anonychia totalis",
      "anonychia/hyponychia congenita",
      "nail disorder, nonsyndromic congenital, 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19080,
      "label": "isolated congenital anonychia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010048",
          "MEDGEN:120563",
          "Orphanet:79143",
          "UMLS:C0265998"
        ],
        "synonyms": [
          "isolated anonychia",
          "autosomal recessive nonsyndromic congenital nail disorder-4",
          "congenital anonychia",
          "nonsyndromic congenital nail disorder, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019211"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19080,
      "label": "isolated congenital anonychia"
    }
  ]
}