{
  "id": 16977,
  "label": "isotretinoin syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016467",
  "properties": {
    "xrefs": [
      "MEDGEN:419683",
      "MESH:C535670",
      "NCIT:C98929",
      "NORD:1140",
      "Orphanet:2305",
      "SCTID:36871005",
      "UMLS:C2930972"
    ],
    "synonyms": [
      "Fetal Retinoid Syndrome",
      "Isotretinoin embryopathy",
      "Retinoids embryopathy",
      "fetal isotretinoin syndrome",
      "fetal retinoid syndrome",
      "foetal isotretinoin syndrome",
      "foetal retinoid syndrome",
      "retinoic acid embryopathy",
      "Accutane fetal effects of",
      "Accutane foetal effects of",
      "Accutane-exposed pregnancies",
      "Acutane embryopathy",
      "Isotretinoin (RoAccutane) embryopathy",
      "Isotretinoin fetal effects of",
      "Isotretinoin foetal effects of",
      "Isotretinoin teratogen syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 10699,
      "label": "isotretinoin-like syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16088
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009675",
          "MEDGEN:96600",
          "MESH:C535542",
          "OMIM:243440",
          "Orphanet:2306",
          "SCTID:722006004",
          "UMLS:C0432364"
        ],
        "synonyms": [
          "Kawashima syndrome",
          "microtia-aortic arch syndrome",
          "ISOTRETINOIN embryopathy-like syndrome",
          "Isotretinoin embryopathy like syndrome",
          "microtia aortic arch syndrome",
          "microtia-aortic Arch syndrome",
          "syndrome of microtia and aortic arch anomalies"
        ],
        "definition": "Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy."
      },
      "child_count": 1,
      "reference_id": "MONDO:0009473"
    },
    {
      "id": 17143,
      "label": "toxic or drug-related embryofetopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1843068",
          "MESH:D000014",
          "Orphanet:251529",
          "UMLS:C5680710",
          "icd11.foundation:293076727"
        ],
        "definition": "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment."
      },
      "child_count": 22,
      "reference_id": "MONDO:0016677"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 10699,
      "label": "isotretinoin-like syndrome"
    },
    {
      "id": 17143,
      "label": "toxic or drug-related embryofetopathy"
    }
  ]
}