{
  "id": 10703,
  "label": "Stromme syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009477",
  "properties": {
    "xrefs": [
      "DOID:0110595",
      "EFO:0009160",
      "GARD:0017945",
      "MEDGEN:340938",
      "MESH:C565460",
      "OMIM:243605",
      "OMIM:616369",
      "Orphanet:444069",
      "Orphanet:506307",
      "UMLS:C1855705"
    ],
    "synonyms": [
      "CILD31",
      "Stromme syndrome",
      "apple peel syndrome with microcephaly and ocular anomalies",
      "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome",
      "ciliary dyskinesia, primary, type 31",
      "jejunal atresia with microcephaly and ocular anomalies",
      "jejunal atresia-microcephaly-ocular anomalies syndrome",
      "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
      "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
      "STROMS",
      "ciliary dyskinesia, primary, 31",
      "ciliary dyskinesia, primary, 31, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 17068,
      "label": "primary ciliary dyskinesia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6815,
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050144",
          "DOID:9562",
          "GARD:0004484",
          "MEDGEN:3467",
          "MESH:D002925",
          "MESH:D007619",
          "MedDRA:10069713",
          "NANDO:2100034",
          "NANDO:2200203",
          "NANDO:2200204",
          "NCIT:C84797",
          "NORD:1605",
          "OMIMPS:244400",
          "Orphanet:244",
          "SCTID:42402006",
          "SCTID:86204009",
          "UMLS:C0008780",
          "icd11.foundation:1713839459"
        ],
        "synonyms": [
          "Kartagener syndrome",
          "Kartagener's syndrome",
          "PCD",
          "Dextrocardia bronchiectasis and sinusitis",
          "Dextrocardia-bronchiectasis-sinusitis syndrome",
          "ICS",
          "Immotile cilia syndrome, Kartagener type",
          "Primary ciliary dyskinesia and situs inversus",
          "Primary ciliary dyskinesia, Kartagener type",
          "Siewert syndrome",
          "bronchiectasis, chronic sinusitis and dextrocardia syndrome",
          "ciliary dyskinesia primary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy)."
      },
      "child_count": 177,
      "reference_id": "MONDO:0016575"
    },
    {
      "id": 23110,
      "label": "hereditary lethal multiple congenital anomalies/dysmorphic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021947",
          "MEDGEN:1843298",
          "Orphanet:471383",
          "UMLS:C5681265"
        ],
        "synonyms": [
          "genetic lethal multiple congenital anomalies/dysmorphic syndrome"
        ],
        "definition": "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 10,
      "reference_id": "MONDO:0043009"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 17068,
      "label": "primary ciliary dyskinesia"
    },
    {
      "id": 23110,
      "label": "hereditary lethal multiple congenital anomalies/dysmorphic syndrome"
    }
  ]
}