{
  "id": 18967,
  "label": "Bosley-Salih-Alorainy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019075",
  "properties": {
    "xrefs": [
      "GARD:0016684",
      "MEDGEN:321908",
      "Orphanet:69737",
      "UMLS:C1832216",
      "icd11.foundation:1771217937"
    ],
    "synonyms": [
      "BSAS"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12225,
      "label": "human HOXA1 syndromes",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050682",
          "GARD:0008333",
          "MEDGEN:330410",
          "OMIM:601536",
          "Orphanet:69739",
          "SCTID:720518006",
          "UMLS:C1832215"
        ],
        "synonyms": [
          "ABSD",
          "Athabascan brainstem dysgenesis syndrome",
          "Athabaskan brainstem dysgenesis syndrome",
          "Navajo brainstem syndrome",
          "ABDS",
          "Athabaskan brainstem dysgenesis",
          "BSAS",
          "Bosley Salih Alorainy syndrome",
          "Bosley-Salih-Alorainy syndrome",
          "Human HOXA1 syndromes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive."
      },
      "child_count": 2,
      "reference_id": "MONDO:0011099"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12225,
      "label": "human HOXA1 syndromes"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    }
  ]
}