{
  "id": 10705,
  "label": "Johanson-Blizzard syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009479",
  "properties": {
    "xrefs": [
      "DOID:14694",
      "GARD:0000080",
      "ICD9:759.89",
      "MEDGEN:59798",
      "MESH:C535880",
      "MESH:C564907",
      "NORD:1311",
      "OMIM:243800",
      "OMIM:260450",
      "Orphanet:2315",
      "SCTID:75979009",
      "UMLS:C0175692",
      "icd11.foundation:1427330812"
    ],
    "synonyms": [
      "JBS",
      "Johanson-Blizzard syndrome",
      "pancreatic insufficiency, combined exocrine",
      "Johanson-BLIZZARD syndrome",
      "nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness",
      "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0002409",
        "name": "auditory system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 7048,
      "label": "hearing loss disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20788
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0004238",
          "ICD10CM:H90",
          "ICD9:389",
          "ICD9:389.8",
          "ICD9:389.9",
          "MEDGEN:235586",
          "MESH:D034381",
          "NCIT:C35731",
          "SCTID:15188001",
          "UMLS:C1384666"
        ],
        "synonyms": [
          "hearing loss",
          "hypoacuses",
          "hypoacusis",
          "loss of hearing",
          "loss, hearing",
          "deafness",
          "hearing impairment"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central."
      },
      "child_count": 11,
      "reference_id": "MONDO:0005365"
    },
    {
      "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": 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": 22991,
      "label": "inherited auditory system disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4499,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:707712",
          "SCTID:362991006",
          "UMLS:C1285174"
        ],
        "synonyms": [
          "auditory system hereditary disorder",
          "hereditary auditory system disease",
          "inherited auditory system disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          }
        ],
        "definition": "An instance of auditory system disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0037940"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 7048,
      "label": "hearing loss disorder"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 22991,
      "label": "inherited auditory system disease"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}