人类表型库

概述

本数据集系统整合12,000余项人类表型数据，覆盖人类表型本体全量数据，收录表型术语定义、标准化HPO编码、临床症状描述（如发育异常、代谢功能障碍）、关联基因变异信息，并建立与ICD-11、OMIM、ORPHA的跨库映射关系。

数据结构及样例

{
    "疾病名称": "Diarrhea 2, with microvillous atrophy",
    "OMIM编号": "251850",
    "MONDO编号": "0009635",
    "ORPHA编号": "",
    "疾病概述": "Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.",
    "hpo症状表": [
        {
            "症状分类": "Inheritance",
            "HP编号": "HP:0000007",
            "症状": "Autosomal recessive inheritance",
            "症状发病时期": "",
            "频率": "",
            "来源": "OMIM:251850",
            "来源网址": "https://omim.org/entry/251850"
        },
        {
            "症状分类": "Metabolism/Laboratory abnormality",
            "HP编号": "HP:0001944",
            "症状": "Dehydration",
            "症状发病时期": "",
            "频率": "",
            "来源": "OMIM:251850",
            "来源网址": "https://omim.org/entry/251850"
        },
        {
            "症状分类": "Digestive System",
            "HP编号": "HP:0002242",
            "症状": "Abnormal intestine morphology",
            "症状发病时期": "",
            "频率": "",
            "来源": "OMIM:251850",
            "来源网址": "https://omim.org/entry/251850"
        },
        {
            "症状分类": "Digestive System",
            "HP编号": "HP:0004385",
            "症状": "Protracted diarrhea",
            "症状发病时期": "",
            "频率": "11/11",
            "来源": "PMID:18724368",
            "来源网址": "https://pubmed.ncbi.nlm.nih.gov/18724368"
        },
        {
            "症状分类": "Digestive System",
            "HP编号": "HP:0011473",
            "症状": "Villous atrophy",
            "症状发病时期": "",
            "频率": "",
            "来源": "OMIM:251850",
            "来源网址": "https://omim.org/entry/251850"
        },
        {
            "症状分类": "Digestive System",
            "HP编号": "HP:0004395",
            "症状": "Malnutrition",
            "症状发病时期": "",
            "频率": "",
            "来源": "OMIM:251850",
            "来源网址": "https://omim.org/entry/251850"
        },
        {
            "症状分类": "Clinical course",
            "HP编号": "HP:0001522",
            "症状": "Death in infancy",
            "症状发病时期": "",
            "频率": "",
            "来源": "OMIM:251850",
            "来源网址": "https://omim.org/entry/251850"
        },
        {
            "症状分类": "Clinical course",
            "HP编号": "HP:0003623",
            "症状": "Neonatal onset",
            "症状发病时期": "",
            "频率": "11/11",
            "来源": "PMID:18724368",
            "来源网址": "https://pubmed.ncbi.nlm.nih.gov/18724368"
        },
        {
            "症状分类": "Growth",
            "HP编号": "HP:0001510",
            "症状": "Growth delay",
            "症状发病时期": "",
            "频率": "",
            "来源": "OMIM:251850",
            "来源网址": "https://omim.org/entry/251850"
        }
    ],
    "关联基因": [
        {
            "基因名称": "MYO5B",
            "基因识别码": "4645"
        }
    ]
}