reference_data_sets.json

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      "citation": "Kromeyer-Hauschild K, Dortschy R, Stolzenberg H, Neuhauser H, Rosario AS. Nationally representative waist circumference percentiles in German adolescents aged 11.0–18.0 years. International Journal of Pediatric Obesity 2011;6:e129–37. https://doi.org/10.3109/17477166.2010.490267.",
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      "citation": "Cheung MS, Cole TJ, Arundel P, Bridges N, Burren CP, Cole T, et al. Growth reference charts for children with hypochondroplasia. American J of Med Genetics Pt A 2024;194:243–52. https://doi.org/10.1002/ajmg.a.63431.",
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      "citation": "Voigt M, Fusch C, Olbertz D, Hartmann K, Rochow N, Renken C, et al. Analyse des Neugeborenenkollektivs der Bundesrepublik Deutschland. Geburtsh Frauenheilk 2006;66:956–70. https://doi.org/10.1055/s-2006-924458.",
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      "citation": "Arenas MA, del Pino M, Fano V. FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation. JPEM 2018;31:1279–84. https://doi.org/10.1515/jpem-2018-0046.",
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      "citation": "Redlefsen T, Commentz J, Meigen C, Hermanussen M. Reference values for height, weight and body mass index of German born Turkish children. Anthropologischer Anzeiger 2007;65:263–74. https://doi.org/10.1127/anthranz/65/2007/263.",
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      "name": "Fredriks",
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          "region": "@usa",
          "unit": "@cm",
          "method": "@lms",
          "domainRanges": [
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              "feature": "@sex",
              "values": ["1=male", "2=female"]
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              "max": 35.5,
              "unit": "@mo"
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            "source": "https://www.cdc.gov/growthcharts/data/zscore/lenageinf.csv",
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          "unit": "@kg",
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            "source": "https://www.cdc.gov/growthcharts/data/zscore/wtstat.csv",
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      "name": "Achondroplasia",
      "iri": "http://purl.obolibrary.org/obo/DOID_4480"
    },
    "@down_syndrome": {
      "name": "Down syndrome",
      "iri": "http://purl.obolibrary.org/obo/DOID_14250"
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    "@hypochondroplasia": {
      "name": "Hypochondroplasia",
      "iri": "http://purl.obolibrary.org/obo/DOID_0080041"
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    "@noonan_syndrome": {
      "name": "Noonan syndrome",
      "iri": "http://purl.obolibrary.org/obo/DOID_3490"
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    "@obesity": {
      "name": "Obesity",
      "iri": "http://purl.obolibrary.org/obo/DOID_9970"
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      "name": "United States of America",
      "iri": "http://id.nlm.nih.gov/mesh/D014481"
    },
    "@europe": {
      "name": "Europe",
      "iri": "http://id.nlm.nih.gov/mesh/D005060"
    },
    "@germany": {
      "name": "Germany",
      "iri": "http://id.nlm.nih.gov/mesh/D005858"
    },
    "@netherlands": {
      "name": "Netherlands",
      "iri": "http://id.nlm.nih.gov/mesh/D009426"
    },
    "@china": {
      "name": "China",
      "iri": "http://id.nlm.nih.gov/mesh/D002681"
    },
    "@japan": {
      "name": "Japan",
      "iri": "http://id.nlm.nih.gov/mesh/D007564"
    }
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      "name": "Sex",
      "iri": "https://loinc.org/76689-9"
    },
    "@age": {
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      "iri": "https://loinc.org/75272-5"
    },
    "@gestational_age": {
      "name": "Gestational age",
      "iri": "https://loinc.org/75272-5"
    },
    "@waist_circumference": {
      "name": "Waist circumference",
      "iri": "http://snomed.info/sct/276361009"
    },
    "@body_height": {
      "name": "Body height",
      "iri": "https://loinc.org/8302-2"
    },
    "@body_weight": {
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      "iri": "https://loinc.org/3141-9"
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    "@bmi": {
      "name": "BMI",
      "iri": "https://loinc.org/89270-3"
    },
    "@head_circumference": {
      "name": "Head circumference",
      "iri": "https://loinc.org/9843-4"
    },
    "@body_length": {
      "name": "Body length",
      "iri": "https://loinc.org/8306-3"
    },
    "@leg_length": {
      "name": "Leg length",
      "iri": "http://snomed.info/sct/249841004"
    },
    "@sitting_height": {
      "name": "Sitting height",
      "iri": "https://loinc.org/92999-2"
    },
    "@sitting_height_to_height_ratio": {
      "name": "Sitting-height-to-height-ratio",
      "iri": "http://www.ebi.ac.uk/efo/EFO_0007118"
    },
    "@sitting_height_to_leg_length_ratio": {
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      "iri": "http://snomed.info/id/249842006"
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    "@body_weight_for_height": {
      "name": "Body weight for height",
      "iri": "http://snomed.info/sct/248358009"
    },
    "@body_weight_for_length": {
      "name": "Body weight for length",
      "iri": "https://example.com/body_weight_for_length"
    },
    "@hip_circumference": {
      "name": "Hip circumference",
      "iri": "http://snomed.info/sct/284472007"
    },
    "@waist_to_hip_ratio": {
      "name": "Waist-to-hip-ratio",
      "iri": "http://www.ebi.ac.uk/efo/EFO_0004343"
    },
    "@waist_to_height_ratio": {
      "name": "Waist-to-height-ratio",
      "iri": "http://snomed.info/sct/1251557006"
    },
    "@arm_span": {
      "name": "Arm span",
      "iri": "https://loinc.org/56116-7"
    },
    "@foot_length": {
      "name": "Foot length",
      "iri": "http://snomed.info/id/249815005"
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    "@a": {
      "name": "years",
      "iri": "https://w3id.org/uom/a"
    },
    "@cm": {
      "name": "cm",
      "iri": "https://w3id.org/uom/cm"
    },
    "@kg": {
      "name": "kg",
      "iri": "https://w3id.org/uom/kg"
    },
    "@kg/m2": {
      "name": "kg/m2",
      "iri": "https://w3id.org/uom/kg.m-2"
    },
    "@mo": {
      "name": "months",
      "iri": "https://w3id.org/uom/mo"
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      "name": "Box-Cox Cole and Green distribution, with L = skewness correction, M = mean, S = coefficient of variation",
      "abbreviation": "LMS",
      "iri": "https://pubmed.ncbi.nlm.nih.gov/2354692"
    },
    "@norm": {
      "name": "Normal distribution",
      "abbreviation": "Norm",
      "iri": "http://id.nlm.nih.gov/mesh/D016011"
    }
  }
}