{
  "id": 19137,
  "label": "inherited isolated nail anomaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019284",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 4897,
      "label": "nail disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4123",
          "ICD9:703",
          "ICD9:703.8",
          "ICD9:703.9",
          "MEDGEN:10171",
          "MESH:D009260",
          "SCTID:17790008",
          "UMLS:C0027339"
        ],
        "synonyms": [
          "disease of nail",
          "disease or disorder of nail",
          "disorder of nail",
          "nail disease",
          "nail disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the nail."
      },
      "child_count": 7,
      "reference_id": "MONDO:0002884"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 8738,
      "label": "isolated congenital digital clubbing",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19137,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017117",
          "MEDGEN:576901",
          "OMIM:119900",
          "Orphanet:217059",
          "UMLS:C0345408",
          "icd11.foundation:130631845"
        ],
        "synonyms": [
          "isolated congenital acropachy",
          "isolated congenital nail clubbing",
          "acropachy, hereditary",
          "clubbing of digits",
          "digital clubbing, isolated congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007343"
    },
    {
      "id": 9203,
      "label": "nonsyndromic congenital nail disorder 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080080",
          "GARD:0009760",
          "ICD9:703.8",
          "MEDGEN:75593",
          "MESH:C537260",
          "OMIM:149300",
          "SCTID:66270006",
          "UMLS:C0266000"
        ],
        "synonyms": [
          "nonsyndromic congenital nail disorder type 2",
          "Koilonychia with leukonychia",
          "Koilonychia, hereditary",
          "NDNC2",
          "congenital koilonychia",
          "familial koilonychia",
          "hereditary koilonychia",
          "nail disorder, nonsyndromic congenital, 2",
          "spoon nails"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007867"
    },
    {
      "id": 9234,
      "label": "nonsyndromic congenital nail disorder 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080081",
          "GARD:0002555",
          "ICD9:703.8",
          "MEDGEN:107463",
          "MESH:C537289",
          "OMIM:151600",
          "SCTID:74102009",
          "UMLS:C0544855"
        ],
        "synonyms": [
          "PLCD1 inherited isolated nail anomaly",
          "inherited isolated nail anomaly caused by mutation in PLCD1",
          "nail disorder, nonsyndromic congenital, 3, (leukonychia)",
          "nail disorder, nonsyndromic congenital, type 3",
          "nonsyndromic congenital nail disorder type 3",
          "Gorlin Bushkell Jensen syndrome",
          "NDNC3",
          "leukonychia Striatus",
          "leukonychia punctata",
          "leukonychia totalis and/or partialis",
          "leukonychia totalis multiple sebaceous cysts renal calculi",
          "nail disorder, nonsyndromic congenital, 3",
          "porcelain nails"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007900"
    },
    {
      "id": 9383,
      "label": "nonsyndromic congenital nail disorder 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080079",
          "DOID:0080088",
          "GARD:0010363",
          "ICD9:703.8",
          "MEDGEN:96056",
          "MESH:C562907",
          "OMIM:161050",
          "Orphanet:79153",
          "SCTID:238719003",
          "UMLS:C0406443"
        ],
        "synonyms": [
          "FZD6 inherited isolated nail anomaly",
          "inherited isolated nail anomaly caused by mutation in FZD6",
          "nail disorder, nonsyndromic congenital, type 10",
          "nonsyndromic congenital nail disorder 10",
          "nonsyndromic congenital nail disorder type 1",
          "nonsyndromic congenital nail disorder type 10",
          "onychodystrophy totalis",
          "twenty-nail dystrophy",
          "NDNC1",
          "NDNC10",
          "autosomal dominant nail dysplasia",
          "autosomal recessive nail dysplasia",
          "claw-Shaped nails",
          "idiopathic trachyonychia",
          "nail Growth",
          "nail disorder, nonsyndromic congenital 1",
          "nail disorder, nonsyndromic congenital, 1",
          "nail disorder, nonsyndromic congenital, 10",
          "onychauxis, hyponychia, and onycholysis",
          "onychodystrophy totalis, isolated",
          "sandpaper nails",
          "trachyonychia",
          "twenty nail dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008060"
    },
    {
      "id": 9438,
      "label": "nonsyndromic congenital nail disorder 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080083",
          "GARD:0024602",
          "MEDGEN:318994",
          "MESH:C563503",
          "OMIM:164800",
          "UMLS:C1833909"
        ],
        "synonyms": [
          "nonsyndromic congenital nail disorder type 5",
          "NDNC5",
          "nail disorder, nonsyndromic congenital, 5",
          "onycholysis, hereditary distal",
          "onycholysis, partial, with scleronychia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008125"
    },
    {
      "id": 12691,
      "label": "nonsyndromic congenital nail disorder 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080085",
          "GARD:0009761",
          "MEDGEN:1803839",
          "MESH:C538333",
          "OMIM:605779",
          "Orphanet:79144",
          "SCTID:403281007",
          "UMLS:C5574953"
        ],
        "synonyms": [
          "COIF",
          "COIF syndrome",
          "Iso-Kikuchi syndrome",
          "congenital onychodysplasia of the index fingers",
          "nonsyndromic congenital nail disorder type 7",
          "NDNC7",
          "congenital isolated nail dysplasia",
          "isolated congenital nail dysplasia",
          "isolated congenital onychodysplasia",
          "nail disorder, nonsyndromic congenital, 7",
          "nail dysplasia, isolated congenital",
          "onychodysplasia, isolated congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011595"
    },
    {
      "id": 12933,
      "label": "nonsyndromic congenital nail disorder 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080086",
          "GARD:0024828",
          "MEDGEN:375277",
          "MESH:C564384",
          "OMIM:607523",
          "UMLS:C1843761"
        ],
        "synonyms": [
          "COL7A1 inherited isolated nail anomaly",
          "inherited isolated nail anomaly caused by mutation in COL7A1",
          "nail disorder, nonsyndromic congenital, type 8",
          "nonsyndromic congenital nail disorder type 8",
          "NDNC8",
          "nail disorder, nonsyndromic congenital, 8",
          "toenail dystrophy, isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011852"
    },
    {
      "id": 17052,
      "label": "leukonychia totalis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19137
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009759",
          "MEDGEN:1641555",
          "MESH:C535889",
          "Orphanet:2387",
          "SCTID:763792009",
          "UMLS:C4551625"
        ],
        "synonyms": [
          "hereditary white nails",
          "total leukonychia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016557"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4897,
      "label": "nail disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}