{
  "id": 23953,
  "label": "IFAP syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100212",
  "properties": {
    "xrefs": [
      "GARD:0002952",
      "MEDGEN:327007",
      "OMIMPS:308205",
      "Orphanet:2273",
      "UMLS:C1839988"
    ],
    "synonyms": [
      "IFAP syndrome",
      "ichthyosis follicularis-alopecia-photophobia syndrome",
      "ichthyosis follicularis-atrichia-photophobia syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16624,
      "label": "inherited ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19130,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020261",
          "ICD10CM:Q80",
          "ICD9:757.1",
          "MEDGEN:797407",
          "MedDRA:10021202",
          "NANDO:1200609",
          "NANDO:2100283",
          "Orphanet:183435",
          "SCTID:13059002",
          "UMLS:C0856562"
        ],
        "synonyms": [
          "congenital ichthyosis of skin",
          "genetic ichthyosis",
          "hereditary ichthyosis (disease)",
          "inherited genetic ichthyosis",
          "congenital ichthyosis",
          "fish scale disease",
          "fish skin",
          "ichthyosis congenita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015947"
    }
  ],
  "children": [
    {
      "id": 23954,
      "label": "IFAP syndrome 1, with or without BRESHECK syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20040,
        23953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111821",
          "GARD:0015297",
          "MEDGEN:1746744",
          "MESH:C536085",
          "NANDO:2200999",
          "OMIM:308205",
          "UMLS:C5399971"
        ],
        "synonyms": [
          "ichthyosis follicularis-alopecia-photophobia syndrome",
          "IFAP syndrome with or without BRESHECK syndrome",
          "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive",
          "IFAP/BRESHECK syndrome",
          "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia",
          "ichthyosis follicularis atrichia photophobia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100213"
    },
    {
      "id": 23962,
      "label": "IFAP syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016402",
          "MEDGEN:1763502",
          "OMIM:619016",
          "UMLS:C5436607"
        ],
        "synonyms": [
          "IFAP SYNDROME 2",
          "IFAP2",
          "ichthyosis , follicular, with atrichia and photophobia syndrome 2",
          "ichthyosis follicularis, atrichia, and photophobia syndrome 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100221"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16624,
      "label": "inherited ichthyosis"
    }
  ]
}