{
  "id": 22729,
  "label": "Kilquist syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0033664",
  "properties": {
    "xrefs": [
      "GARD:0027953",
      "MEDGEN:1742639",
      "OMIM:619080",
      "Orphanet:633021",
      "UMLS:C5436756"
    ],
    "synonyms": [
      "KILQS",
      "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome"
    ],
    "definition": "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 25268,
      "label": "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026643",
          "MEDGEN:1843423",
          "Orphanet:633014",
          "UMLS:C5816806"
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0859000"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 25268,
      "label": "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome"
    }
  ]
}