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罕见病知识库

摩熵数科提供的罕见病知识库接口,数据集整合全球10,000+罕见病信息，覆盖WHO、OMIM、Orphanet等权威数据库，收录疾病名称、症状描述、流行病学特征、诊断标准及治疗进展等核心内容，同步关联6,000+致病基因、突变位点及遗传模式数据。数据建立ICD-11疾病编码、HPO症状术语、OMIM编号等标准化映射体系，支持基因-表型关联分析。
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概述

本数据集整合全球10,000+罕见病信息，覆盖WHO、OMIM、Orphanet等权威数据库，收录疾病名称、症状描述、流行病学特征、诊断标准及治疗进展等核心内容，同步关联6,000+致病基因、突变位点及遗传模式数据。数据建立ICD-11疾病编码、HPO症状术语、OMIM编号等标准化映射体系，支持基因-表型关联分析。

数据结构及样例

{
    "罕见病编号": "582",
    "疾病名称": "Mucopolysaccharidosis type 4",
    "疾病别名": [
        "MPS4",
        "MPSIV",
        "Morquio disease",
        "Mucopolysaccharidosis type IV"
    ],
    "ICD-10编码": "E76.2",
    "ICD-11编码": "5C56.32",
    "OMIM编码": "252300",
    "UMLS编码": "C0026707",
    "MeSH编码": "D009085",
    "GARD编码": "12562",
    "MedDRA编码": "10028095",
    "疾病概述": "A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease.",
    "基因名": [],
    "基因别名": [],
    "症状表": [
        {
            "HP编号": "HP:0000154",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Wide mouth",
            "症状(中文)": "宽口"
        },
        {
            "HP编号": "HP:0000164",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Abnormality of the dentition",
            "症状(中文)": "牙列异常"
        },
        {
            "HP编号": "HP:0000256",
            "频率": "Occasional (29-5%)",
            "症状（英文）": "Macrocephaly",
            "症状(中文)": "巨头畸形"
        },
        {
            "HP编号": "HP:0000280",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Coarse facial features",
            "症状(中文)": "面部特征粗糙"
        },
        {
            "HP编号": "HP:0000365",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Hearing impairment",
            "症状(中文)": "听力障碍"
        },
        {
            "HP编号": "HP:0000463",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Anteverted nares",
            "症状(中文)": "鼻孔前倾"
        },
        {
            "HP编号": "HP:0000470",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Short neck",
            "症状(中文)": "短脖子"
        },
        {
            "HP编号": "HP:0000670",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Carious teeth",
            "症状(中文)": "龋齿"
        },
        {
            "HP编号": "HP:0000683",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Grayish enamel",
            "症状(中文)": "浅灰色釉质"
        },
        {
            "HP编号": "HP:0000768",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Pectus carinatum",
            "症状(中文)": "鸡胸"
        },
        {
            "HP编号": "HP:0000772",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Abnormality of the ribs",
            "症状(中文)": "肋骨畸形"
        },
        {
            "HP编号": "HP:0000926",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Platyspondyly",
            "症状(中文)": "扁平椎体"
        },
        {
            "HP编号": "HP:0000944",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Abnormality of the metaphysis",
            "症状(中文)": "干骺端异常"
        },
        {
            "HP编号": "HP:0001288",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Gait disturbance",
            "症状(中文)": "步态障碍"
        },
        {
            "HP编号": "HP:0001373",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Joint dislocation",
            "症状(中文)": "关节脱位"
        },
        {
            "HP编号": "HP:0001654",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Abnormal heart valve morphology",
            "症状(中文)": "心脏瓣膜形态异常"
        },
        {
            "HP编号": "HP:0002650",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Scoliosis",
            "症状(中文)": "脊柱侧凸"
        },
        {
            "HP编号": "HP:0002673",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Coxa valga",
            "症状(中文)": "髋外翻"
        },
        {
            "HP编号": "HP:0002750",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Delayed skeletal maturation",
            "症状(中文)": "骨骼发育迟缓"
        },
        {
            "HP编号": "HP:0002808",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Kyphosis",
            "症状(中文)": "脊柱后凸"
        },
        {
            "HP编号": "HP:0002857",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Genu valgum",
            "症状(中文)": "膝外翻"
        },
        {
            "HP编号": "HP:0003416",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Spinal canal stenosis",
            "症状(中文)": "椎管狭窄"
        },
        {
            "HP编号": "HP:0004322",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Short stature",
            "症状(中文)": "身材矮小"
        },
        {
            "HP编号": "HP:0004349",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Reduced bone mineral density",
            "症状(中文)": "骨密度降低"
        },
        {
            "HP编号": "HP:0005692",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Joint hyperflexibility",
            "症状(中文)": "关节高度柔韧性"
        },
        {
            "HP编号": "HP:0005930",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Abnormality of epiphysis morphology",
            "症状(中文)": "骨痂形态异常"
        },
        {
            "HP编号": "HP:0006487",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Bowing of the long bones",
            "症状(中文)": "长骨弯曲"
        },
        {
            "HP编号": "HP:0007957",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Corneal opacity",
            "症状(中文)": "角膜混浊"
        },
        {
            "HP编号": "HP:0000682",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Abnormality of dental enamel",
            "症状(中文)": "牙釉质异常"
        },
        {
            "HP编号": "HP:0003307",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Hyperlordosis",
            "症状(中文)": "脊柱前凸过度"
        },
        {
            "HP编号": "HP:0008155",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Mucopolysacchariduria",
            "症状(中文)": "粘多糖尿症"
        },
        {
            "HP编号": "HP:0010306",
            "频率": "Very frequent (99-80%)",
            "症状（英文）": "Short thorax",
            "症状(中文)": "短胸腔"
        },
        {
            "HP编号": "HP:0100543",
            "频率": "Occasional (29-5%)",
            "症状（英文）": "Cognitive impairment",
            "症状(中文)": "认知障碍"
        },
        {
            "HP编号": "HP:0100790",
            "频率": "Frequent (79-30%)",
            "症状（英文）": "Hernia",
            "症状(中文)": "疝"
        }
    ],
    "mesh主题词tree编号": [
        "C16.320.565.202.715.655",
        "C16.320.565.595.600.655",
        "C17.300.550.575.655",
        "C18.452.648.202.715.655",
        "C18.452.648.595.600.655"
    ],
    "id": 36
}