{
  "data": {
    "__count": 1,
    "__licence": {
      "identifier": "CC-BY-4.0",
      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
    },
    "results": {
      "Date": "2026-06-23 07:57:18",
      "Disorder": {
        "DisorderGroup": "Disorder",
        "HPODisorderAssociation": [
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0010720",
              "HPOTerm": "Abnormal hair pattern"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000142",
              "HPOTerm": "Abnormality of the vagina"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000407",
              "HPOTerm": "Sensorineural hearing impairment"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000632",
              "HPOTerm": "Lacrimation abnormality"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000677",
              "HPOTerm": "Oligodontia"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000684",
              "HPOTerm": "Delayed eruption of teeth"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000691",
              "HPOTerm": "Microdontia"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001092",
              "HPOTerm": "Absent lacrimal punctum"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001249",
              "HPOTerm": "Intellectual disability"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001545",
              "HPOTerm": "Anteriorly placed anus"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001903",
              "HPOTerm": "Anemia"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0002023",
              "HPOTerm": "Anal atresia"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0002750",
              "HPOTerm": "Delayed skeletal maturation"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0003075",
              "HPOTerm": "Hypoproteinemia"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0010460",
              "HPOTerm": "Abnormality of the female genitalia"
            },
            "HPOFrequency": "Frequent (79-30%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000047",
              "HPOTerm": "Hypospadias"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000126",
              "HPOTerm": "Hydronephrosis"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000252",
              "HPOTerm": "Microcephaly"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000819",
              "HPOTerm": "Diabetes mellitus"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000969",
              "HPOTerm": "Edema"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001252",
              "HPOTerm": "Hypotonia"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001522",
              "HPOTerm": "Death in infancy"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001651",
              "HPOTerm": "Dextrocardia"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001671",
              "HPOTerm": "Abnormal cardiac septum morphology"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0005288",
              "HPOTerm": "Abnormality of the nares"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0008736",
              "HPOTerm": "Hypoplasia of penis"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0030680",
              "HPOTerm": "Abnormal cardiovascular system morphology"
            },
            "HPOFrequency": "Occasional (29-5%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000164",
              "HPOTerm": "Abnormality of the dentition"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0000430",
              "HPOTerm": "Underdeveloped nasal alae"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001508",
              "HPOTerm": "Failure to thrive"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001511",
              "HPOTerm": "Intrauterine growth retardation"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001596",
              "HPOTerm": "Alopecia"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001732",
              "HPOTerm": "Abnormality of the pancreas"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0001738",
              "HPOTerm": "Exocrine pancreatic insufficiency"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0002024",
              "HPOTerm": "Malabsorption"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0003196",
              "HPOTerm": "Short nose"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          },
          {
            "DiagnosticCriteria": null,
            "HPO": {
              "HPOId": "HP:0004322",
              "HPOTerm": "Short stature"
            },
            "HPOFrequency": "Very frequent (99-80%)"
          }
        ],
        "ORPHAcode": 2315,
        "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315",
        "Preferred term": "Johanson-Blizzard syndrome",
        "Typology": "Malformation syndrome"
      },
      "Online": "y",
      "Source": null,
      "ValidationDate": "2016-06-01 00:00:00.0",
      "ValidationStatus": "y"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and associated phenotypes"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 2315
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-phenotypes/orphacodes/2315"
}