{
  "id": 19080,
  "label": "isolated congenital anonychia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019211",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19137,
      "label": "inherited isolated nail anomaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4897,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080683",
          "GARD:0019000",
          "MEDGEN:1843192",
          "OMIMPS:161050",
          "Orphanet:79369",
          "UMLS:C5681477"
        ],
        "synonyms": [
          "nail disorder, nonsyndromic congenital",
          "nonsyndromic nail anomaly",
          "isolated nail anomaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A nail anomaly that is not part of a larger syndrome."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019284"
    }
  ],
  "children": [
    {
      "id": 8547,
      "label": "nonsyndromic congenital nail disorder 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19080
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080084",
          "GARD:0015040",
          "MEDGEN:477175",
          "OMIM:107000",
          "UMLS:C3275544"
        ],
        "synonyms": [
          "nonsyndromic congenital nail disorder type 6",
          "NDNC6",
          "absent nails and dystrophic nails",
          "anonychia, partial",
          "anonychia/hyponychia and onychodystrophy",
          "nail disorder, nonsyndromic congenital, 6",
          "onychodystrophy-anonychia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007135"
    },
    {
      "id": 10069,
      "label": "nonsyndromic congenital nail disorder 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19080
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008798"
    },
    {
      "id": 19382,
      "label": "anonychia-onychodystrophy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19080
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000710",
          "MEDGEN:350767",
          "MESH:C536378",
          "Orphanet:90390",
          "UMLS:C1862840"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0019577"
    }
  ],
  "roots": [
    {
      "id": 19137,
      "label": "inherited isolated nail anomaly"
    }
  ]
}