疾病、表型与本体查询：参数与补充说明

用法和示例见功能教程。

各功能按作用、API、输入、输出、示例代码和结果说明介绍。运行前按说明准备凭据、本地文件与可选依赖；远程结果随数据库版本与查询时间变化。

查询疾病相关基因及关联评分

dnakit.databases.dis_ge_net_get_disease_genes(*, operation=None, disease, min_score=None, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_disease_genes)
disease	string	必填	Disease ID (UMLS CUI) or disease name
min_score	number	None	Minimum association score (0-1). Default: no filter
limit	integer	None	Maximum genes to return (default: 50)
verbose	bool	True	运行提示开关。

运行前配置：DISGENET_API_KEY。

按来源与评分筛选基因疾病关联

dnakit.databases.dis_ge_net_get_gda(*, operation=None, gene=None, disease=None, source=None, min_score=None, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_gda)
gene	string	None	Gene symbol (optional if disease provided)
disease	string	None	Disease ID/UMLS CUI (optional if gene provided)
source	string	None	Data source filter: CURATED, ANIMAL_MODELS, LITERATURE, etc.
min_score	number	None	Minimum GDA score (0-1). Higher = stronger evidence.
limit	integer	None	Maximum results (default: 25)
verbose	bool	True	运行提示开关。

运行前配置：DISGENET_API_KEY。

查询变异与疾病的关联证据

dnakit.databases.dis_ge_net_get_vda(*, operation=None, variant=None, gene=None, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_vda)
variant	string	None	Variant rsID (e.g., rs1234) - optional if gene provided
gene	string	None	Gene symbol to get all variants - optional if variant provided
limit	integer	None	Maximum results (default: 25)
verbose	bool	True	运行提示开关。

运行前配置：DISGENET_API_KEY。

按疾病概念编号检索相关基因

dnakit.databases.dis_ge_net_search_disease(*, operation=None, disease, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: search_disease)
disease	string	必填	UMLS CUI for the disease, e.g. 'C0006142' (breast cancer). Free-text disease names are NOT accepted -- resolve one via umls_search_concepts first.
limit	integer	None	Maximum associations to return (default: 10)
verbose	bool	True	运行提示开关。

运行前配置：DISGENET_API_KEY。

按基因名称检索关联疾病

dnakit.databases.dis_ge_net_search_gene(*, operation=None, gene, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: search_gene)
gene	string	必填	Gene symbol (e.g., BRCA1, TP53, EGFR)
limit	integer	None	Maximum associations to return (default: 10)
verbose	bool	True	运行提示开关。

运行前配置：DISGENET_API_KEY。

统计 GenCC 基因疾病有效性分类

dnakit.databases.gen_cc_get_classifications(*, operation=None, gene_symbol=None, disease=None, submitter=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_classifications)
gene_symbol	string	None	Optional HGNC gene symbol to filter classification stats (e.g., 'GBA', 'BRCA2')
disease	string	None	Optional disease name substring to filter classification stats (e.g., 'Gaucher', 'breast cancer')
submitter	string	None	Optional filter by submitting organization name (e.g., 'ClinGen', 'Ambry', 'Genomics England')
verbose	bool	True	运行提示开关。

按疾病检索 GenCC 基因关联证据

dnakit.databases.gen_cc_search_disease(*, operation=None, disease=None, disease_name=None, classification=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: search_disease)
disease	string	None	Disease name or ID to search (e.g., 'Marfan syndrome', 'MONDO:0007947', 'breast cancer')
disease_name	string	None	Alias for disease. Disease name or ID to search.
classification	string	None	Optional filter by classification level (e.g., Definitive, Strong)
verbose	bool	True	运行提示开关。

按基因查询 GenCC 疾病关联分类

dnakit.databases.gen_cc_search_gene(*, operation=None, gene_symbol, classification=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: search_gene)
gene_symbol	string	必填	HGNC gene symbol (e.g., BRCA2, TP53, FBN1, CFTR)
classification	string	None	Optional filter by classification level (e.g., Definitive, Strong, Moderate, Limited)
verbose	bool	True	运行提示开关。

按多个 HPO 表型检索关联疾病

dnakit.databases.get_joint_associated_diseases_by_hpo_id_list(*, HPO_ID_list, limit=None, offset=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
HPO_ID_list	array	必填	List of phenotypes or symptoms {"items": {"type": "string", "description": "The HPO ID of the phenotype or symptom."}}
limit	integer	None	Number of entries to fetch.
offset	integer	None	Number of initial entries to skip.
verbose	bool	True	运行提示开关。

查询 HPO 表型对应的疾病

dnakit.databases.hpo_get_diseases_by_phenotype(*, term_id=None, limit=None, offset=None, hp_id=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
term_id	string	None	HPO term identifier (e.g., 'HP:0001250'). Must start with 'HP:' followed by 7 digits.
limit	integer | null	None	Maximum number of results to return (1-500, default 50). Phenotype terms can be linked to thousands of diseases.
offset	integer | null	None	Number of results to skip before returning 'limit' results (default 0). Use with the response's metadata.has_more/metadata.total to page through phenotypes with more diseases than fit in one call.
hp_id	string	None	DNAKit optional alias for term_id
verbose	bool	True	运行提示开关。

查询 HPO 表型对应的基因

dnakit.databases.hpo_get_genes_by_phenotype(*, term_id, limit=None, offset=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
term_id	string	必填	HPO term identifier (e.g., 'HP:0001250'). Must start with 'HP:' followed by 7 digits.
limit	integer | null	None	Maximum number of results to return (1-500, default 50). Phenotype terms can be linked to thousands of genes.
offset	integer | null	None	Number of results to skip before returning 'limit' results (default 0). Use with the response's metadata.has_more/metadata.total to page through phenotypes with more genes than fit in one call.
verbose	bool	True	运行提示开关。

查询 HPO 术语定义与同义词

dnakit.databases.hpo_get_term(*, term_id, verbose=True)

参数	类型	必填 / 默认值	说明与约束
term_id	string	必填	HPO term identifier. Must start with 'HP:' followed by 7 digits. Examples: 'HP:0001250' (Seizure), 'HP:0001263' (Global developmental delay), 'HP:0000252' (Microcephaly), 'HP:0001249' (Intellectual disability).
verbose	bool	True	运行提示开关。

按关键词检索 HPO 表型术语

dnakit.databases.hpo_search_terms(*, query, max_results=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
query	string	必填	Search keyword for phenotype terms. Examples: 'seizure', 'intellectual disability', 'cardiomyopathy', 'scoliosis', 'microcephaly'.
max_results	integer | null	None	Maximum number of results to return (default 10, max 50).
verbose	bool	True	运行提示开关。

汇总人类基因标识与注释

dnakit.databases.marrvel_get_gene(*, symbol=None, gene_symbol=None, gene=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
symbol	string | null	None	HGNC gene symbol, e.g. 'CFTR', 'BRCA1'.
gene_symbol	string | null	None	Alias for symbol.
gene	string | null	None	Alias for symbol.
verbose	bool	True	运行提示开关。

以下参数组至少提供一组：symbol; gene_symbol; gene。

查询基因的 OMIM 表型与遗传方式

dnakit.databases.marrvel_get_omim_phenotypes(*, symbol=None, gene_symbol=None, gene=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
symbol	string | null	None	HGNC gene symbol, e.g. 'CFTR', 'BRCA1'.
gene_symbol	string | null	None	Alias for symbol.
gene	string | null	None	Alias for symbol.
verbose	bool	True	运行提示开关。

以下参数组至少提供一组：symbol; gene_symbol; gene。

查询 Monarch 基因疾病关联

dnakit.databases.monarch_get_gene_diseases(*, subject, limit=None, offset=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
subject	string	必填	Gene CURIE identifier (e.g., 'HGNC:11998' for TP53). Use Monarch_search_gene to find this.
limit	integer	None	Maximum disease associations to return (default: 100)
offset	integer	None	Number of initial entries to skip.
verbose	bool	True	运行提示开关。

查询 Monarch 跨物种基因表型关联

dnakit.databases.monarch_get_gene_phenotypes(*, subject, limit=None, offset=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
subject	string	必填	Gene CURIE identifier (e.g., 'HGNC:11998' for TP53, 'HGNC:1100' for BRCA1). Use Monarch_search_gene to find this.
limit	integer	None	Maximum phenotype associations to return (default: 100)
offset	integer	None	Number of initial entries to skip.
verbose	bool	True	运行提示开关。

按名称检索 Monarch 生物医学实体

dnakit.databases.monarch_search(*, query, category=None, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
query	string	必填	Search query: gene names, disease names, phenotype terms. Examples: 'BRCA1', 'Alzheimer', 'seizure', 'insulin resistance'.
category	string	None	Filter by entity category. Options: 'biolink:Gene', 'biolink:Disease', 'biolink:PhenotypicFeature'. Default: all categories.
limit	integer	None	Maximum results (default: 10, max: 50).
verbose	bool	True	运行提示开关。

检索 Monarch 基因与跨物种标识

dnakit.databases.monarch_search_gene(*, query, limit=None, offset=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
query	string	必填	Gene symbol or name (e.g., 'TP53', 'BRCA1', 'WDR7')
limit	integer	None	Number of results to return (default: 10)
offset	integer	None	Number of initial entries to skip.
verbose	bool	True	运行提示开关。

查询知识图谱中的跨物种实体关联

dnakit.databases.monarch_v3_get_associations(*, subject=None, object=None, category, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
subject	string	None	Subject-side entity CURIE, i.e. the entity on the LEFT of the association (the arrow's source). For gene->disease categories (CausalGeneToDiseaseAssociation, CorrelatedGeneToDiseaseAssociation) the subject is the GENE; for gene->phenotype and gene->pathway the subject is the gene; for DiseaseToPhenotypicFeatureAssociation the subject is the disease. Examples: 'HGNC:11998' (TP53), 'MONDO:0005148' (type 2 diabetes), 'HP:0001250' (seizure). Optional, but at least one of 'subject' / 'object' must be supplied.
object	string	None	Object-side entity CURIE, i.e. the entity on the RIGHT of the association (the arrow's target). Use this to query the association backwards. For gene->disease categories the object is the DISEASE, so 'which genes cause this disease?' is object='MONDO:0006559' with category='biolink:CausalGeneToDiseaseAssociation'; for gene/disease->phenotype categories the object is the HP phenotype term. Optional, but at least one of 'subject' / 'object' must be supplied. Supplying both narrows to associations linking exactly that pair.
category	string	必填	Biolink association category, written as subject->object. Options: 'biolink:GeneToPhenotypicFeatureAssociation' (gene->phenotypes), 'biolink:DiseaseToPhenotypicFeatureAssociation' (disease->phenotypes), 'biolink:CorrelatedGeneToDiseaseAssociation' (gene->diseases, correlated), 'biolink:CausalGeneToDiseaseAssociation' (gene->diseases, causal), 'biolink:GeneToPathwayAssociation' (gene->pathways), 'biolink:VariantToDiseaseAssociation' (variant->diseases), 'biolink:GeneToExpressionSiteAssociation' (gene->expression sites/tissues). The left-hand side goes in 'subject' and the right-hand side goes in 'object'.
limit	integer	None	Maximum number of associations to return (default: 20, max: 200).
verbose	bool	True	运行提示开关。

按 CURIE 查询生物医学实体详情

dnakit.databases.monarch_v3_get_entity(*, entity_id, verbose=True)

参数	类型	必填 / 默认值	说明与约束
entity_id	string	必填	Entity CURIE identifier. Examples: 'HGNC:11998' (TP53), 'HGNC:1100' (BRCA1), 'MONDO:0005148' (type 2 diabetes), 'HP:0001250' (seizure), 'OMIM:191170' (Li-Fraumeni syndrome).
verbose	bool	True	运行提示开关。

按身体系统汇总疾病表型分布

dnakit.databases.monarch_v3_get_histopheno(*, entity_id, verbose=True)

参数	类型	必填 / 默认值	说明与约束
entity_id	string	必填	Disease CURIE identifier. Examples: 'MONDO:0007947' (Marfan syndrome), 'MONDO:0005148' (type 2 diabetes), 'MONDO:0004975' (Alzheimer disease), 'MONDO:0005015' (diabetes mellitus).
verbose	bool	True	运行提示开关。

查询生物医学实体的跨本体标识映射

dnakit.databases.monarch_v3_get_mappings(*, entity_id, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
entity_id	string	必填	Entity CURIE identifier to find mappings for. Examples: 'MONDO:0005148' (type 2 diabetes), 'MONDO:0007947' (Marfan syndrome), 'HP:0001250' (seizure).
limit	integer	None	Maximum number of mappings to return (default: 20, max: 100).
verbose	bool	True	运行提示开关。

按表型语义相似性检索疾病

dnakit.databases.monarch_v3_phenotype_similarity_search(*, phenotypes, group=None, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
phenotypes	array	必填	List of HPO term CURIEs representing observed phenotypes. Examples: ['HP:0001250', 'HP:0001249', 'HP:0002353'] for seizure + intellectual disability + EEG abnormality. {"items": {"type": "string"}}
group	string	None	Entity group to search against. Default: 'Human Diseases'. Options: 'Human Diseases', 'Mouse', 'Rat', 'Zebrafish', 'C. elegans', 'Drosophila'.
limit	integer	None	Maximum number of matching diseases to return (default: 10, max: 50).
verbose	bool	True	运行提示开关。

检索 Monarch 知识图谱实体与类别

dnakit.databases.monarch_v3_search(*, query=None, limit=None, category=None, q=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
query	string	None	Search query. Can be gene names, disease names, phenotype terms, etc. Examples: 'BRCA1', 'breast cancer', 'seizure', 'insulin resistance'.
limit	integer	None	Maximum results to return (default: 10, max: 50).
category	string	None	Filter by entity category. Options: 'biolink:Gene', 'biolink:Disease', 'biolink:PhenotypicFeature', 'biolink:NamedThing'. Default: all categories.
q	string	None	Alias for query parameter.
verbose	bool	True	运行提示开关。

查询本体术语的上位概念

dnakit.databases.ols_get_term_ancestors(*, operation=None, term_iri=None, term_id=None, ontology=None, include_obsolete=None, size=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	The operation to perform (get_term_ancestors)
term_iri	string	None	The full IRI of the term (e.g., http://www.ebi.ac.uk/efo/EFO_0000408)
term_id	string	None	Short-form CURIE (e.g., 'HP:0001928', 'GO:0008150'). Ontology is auto-inferred from prefix.
ontology	string	None	Ontology ID (e.g., 'hp', 'go', 'efo'). Auto-inferred from term_id prefix when not supplied.
include_obsolete	boolean	None	Include obsolete terms (default: false)
size	integer	None	Number of results to return (default: 20)
verbose	bool	True	运行提示开关。

查询本体术语的下位概念

dnakit.databases.ols_get_term_children(*, operation=None, term_iri=None, term_id=None, ontology=None, include_obsolete=None, size=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	The operation to perform (get_term_children)
term_iri	string	None	The full IRI of the term (e.g., http://www.ebi.ac.uk/efo/EFO_0000408)
term_id	string	None	Short-form CURIE (e.g., 'HP:0001928', 'GO:0008150'). Ontology is auto-inferred from prefix.
ontology	string	None	Ontology ID (e.g., 'hp', 'go', 'efo'). Auto-inferred from term_id prefix when not supplied.
include_obsolete	boolean	None	Include obsolete terms (default: false)
size	integer	None	Number of results to return (default: 20)
verbose	bool	True	运行提示开关。

查询本体术语详情

dnakit.databases.ols_get_term_info(*, operation=None, id=None, term_id=None, term_iri=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	The operation to perform (get_term_info)
id	string	None	Ontology term ID or IRI (e.g. HP:0001903, http://purl.obolibrary.org/obo/HP_0001903)
term_id	string	None	Alias for id — ontology term ID (e.g. HP:0001903)
term_iri	string	None	Alias for id. Full IRI or short-form ID (e.g., GO:0008150, EFO:0003971). Same as id.
verbose	bool	True	运行提示开关。

按关键词检索本体术语

dnakit.databases.ols_search_terms(*, operation=None, query, rows=None, size=None, ontology=None, exact_match=None, include_obsolete=None, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	The operation to perform (search_terms)
query	string	必填	The search query for terms
rows	integer	None	Number of results to return (default: 10). Alias: size.
size	integer	None	Alias for rows. Number of results to return (default: 10).
ontology	string	None	Filter by specific ontology (optional)
exact_match	boolean	None	Restrict results to exact matches (default: false). The query must equal a term's label or one of its exact synonyms in full - substring and word-overlap hits are excluded, so 'fibroblast' returns CL:0000057 but not 'skin fibroblast'. If the query is instead an identifier (a CURIE such as 'CL:0000084', the OBO underscore form 'CL_0000084', or a full IRI), the exact match is applied to the obo_id/short_form/iri fields, which returns that identifier in every ontology that declares it - pass ontology to narrow it to one.
include_obsolete	boolean	None	Include obsolete terms (default: false)
limit	integer | null	None	Alias for rows. Maximum number of results to return (default: 10, max: 100).
verbose	bool	True	运行提示开关。

获取 OMIM 疾病的临床表型摘要

dnakit.databases.omim_get_clinical_synopsis(*, operation=None, mim_number, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_clinical_synopsis)
mim_number	string	必填	OMIM MIM number for phenotype (e.g., 219700 for cystic fibrosis)
verbose	bool	True	运行提示开关。

运行前配置：OMIM_API_KEY。

按 MIM 编号查询 OMIM 条目

dnakit.databases.omim_get_entry(*, operation=None, mim_number, include=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_entry)
mim_number	string	必填	OMIM MIM number (e.g., 164730, 219700). Can include OMIM: prefix.
include	string	None	Data sections to include (default: text,clinicalSynopsis,geneMap)
verbose	bool	True	运行提示开关。

运行前配置：OMIM_API_KEY。

查询 OMIM 基因疾病与染色体映射

dnakit.databases.omim_get_gene_map(*, operation=None, mim_number=None, chromosome=None, limit=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_gene_map)
mim_number	string	None	OMIM MIM number for specific gene (optional if chromosome provided)
chromosome	string	None	Chromosome number (1-22, X, Y) to get all genes (optional if mim_number provided)
limit	integer	None	Maximum results for chromosome query (default: 50, max: 100)
verbose	bool	True	运行提示开关。

运行前配置：OMIM_API_KEY。

检索孟德尔遗传疾病与相关基因

dnakit.databases.omim_search(*, operation=None, query, limit=None, start=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: search)
query	string	必填	Search query - gene name (BRCA1), disease (cystic fibrosis), or phenotype (intellectual disability)
limit	integer	None	Maximum results (default: 10, max: 20)
start	integer	None	Offset for pagination (default: 0)
verbose	bool	True	运行提示开关。

运行前配置：OMIM_API_KEY。

查询罕见病分类层级

dnakit.databases.orphanet_get_classification(*, operation=None, orpha_code=None, lang=None, orphacode=None, orpha_id=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_classification)
orpha_code	string | integer	None	Orphanet ORPHA code
lang	string	None	Language code (default: en)
orphacode	integer | string	None	Alias for orpha_code (the Orphanet disease code).
orpha_id	integer | string	None	Alias for orpha_code (the Orphanet disease code).
verbose	bool	True	运行提示开关。

按 ORPHA 编号查询罕见病详情

dnakit.databases.orphanet_get_disease(*, operation=None, orpha_code=None, lang=None, orphacode=None, orpha_id=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_disease)
orpha_code	string | integer	None	Orphanet ORPHA code (e.g., 558, 166024). Can include ORPHA: prefix.
lang	string	None	Language code (default: en)
orphacode	integer | string	None	Alias for orpha_code (the Orphanet disease code).
orpha_id	integer | string	None	Alias for orpha_code (the Orphanet disease code).
verbose	bool	True	运行提示开关。

按 ORPHA 编号获取已报告的基因关联

dnakit.databases.orphanet_get_disease_genes(*, orpha_code, verbose=True)

参数	类型	必填 / 默认值	说明与约束
orpha_code	string	必填	Orphanet 的 ORPHA 疾病编号。
verbose	bool	True	运行提示开关。

查询罕见病患病率与发病率

dnakit.databases.orphanet_get_epidemiology(*, operation=None, orpha_code=None, orphacode=None, orpha_id=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_epidemiology)
orpha_code	string | integer	None	Orphanet ORPHA code (e.g., 558 for Marfan, 586 for Cystic Fibrosis)
orphacode	integer | string	None	Alias for orpha_code (the Orphanet disease code).
orpha_id	integer | string	None	Alias for orpha_code (the Orphanet disease code).
verbose	bool	True	运行提示开关。

按基因检索关联罕见病

dnakit.databases.orphanet_get_gene_diseases(*, operation=None, gene_name=None, gene_symbol=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_gene_diseases)
gene_name	string	None	Gene symbol or name keyword (e.g., 'FBN1', 'BRCA1', 'huntingtin'). Use gene_symbol for standard HGNC symbols. Note: Orphanet uses current HGNC symbols (e.g., 'GBA1' not 'GBA').
gene_symbol	string | null	None	Alternative to gene_name: standard HGNC gene symbol (e.g., 'GBA1', 'FBN1'). Note: Orphanet uses current HGNC symbols (e.g., 'GBA1' not 'GBA').
verbose	bool	True	运行提示开关。

查询罕见病关联基因与关联类型

dnakit.databases.orphanet_get_genes(*, operation=None, orpha_code=None, orphacode=None, orpha_id=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_genes)
orpha_code	string | integer	None	Orphanet ORPHA code for the disease
orphacode	integer | string	None	Alias for orpha_code (the Orphanet disease code).
orpha_id	integer | string	None	Alias for orpha_code (the Orphanet disease code).
verbose	bool	True	运行提示开关。

映射罕见病与其他医学编码

dnakit.databases.orphanet_get_icd_mapping(*, operation=None, orpha_code=None, coding_system=None, lang=None, orphacode=None, orpha_id=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_icd_mapping)
orpha_code	string | integer	None	Orphanet ORPHA code (e.g., 558 for Marfan, 586 for Cystic Fibrosis)
coding_system	string	None	Which coding system to retrieve: all, icd10, icd11, omim, snomed. Default: all
lang	string	None	Language code (default: en)
orphacode	integer | string	None	Alias for orpha_code (the Orphanet disease code).
orpha_id	integer | string	None	Alias for orpha_code (the Orphanet disease code).
verbose	bool	True	运行提示开关。

查询罕见病起病年龄与遗传方式

dnakit.databases.orphanet_get_natural_history(*, operation=None, orpha_code=None, orphacode=None, orpha_id=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_natural_history)
orpha_code	string | integer	None	Orphanet ORPHA code (e.g., 558 for Marfan, 399 for Huntington)
orphacode	integer | string	None	Alias for orpha_code (the Orphanet disease code).
orpha_id	integer | string	None	Alias for orpha_code (the Orphanet disease code).
verbose	bool	True	运行提示开关。

查询罕见病表型及出现频率

dnakit.databases.orphanet_get_phenotypes(*, operation=None, orpha_code=None, orpha_id=None, orphacode=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: get_phenotypes)
orpha_code	string | integer	None	Orphanet ORPHA code (e.g., 558 for Marfan, 586 for Cystic Fibrosis)
orpha_id	string | integer	None	Alias for orpha_code. Orphanet ORPHA code (e.g., 558 for Marfan)
orphacode	integer | string	None	Alias for orpha_code (the Orphanet disease code).
verbose	bool	True	运行提示开关。

按完整或部分名称检索罕见病

dnakit.databases.orphanet_search_by_name(*, operation=None, name=None, exact=None, lang=None, limit=None, query=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: search_by_name)
name	string	None	Disease name to search (e.g., 'Marfan syndrome')
exact	boolean	None	If true, match exact name only. Default: false
lang	string	None	Language code (default: en)
limit	integer	None	Maximum number of results to return (default: 20, max: 200)
query	string	None	Alias for name. Disease name to search for in Orphanet.
verbose	bool	True	运行提示开关。

按关键词检索罕见病

dnakit.databases.orphanet_search_diseases(*, operation=None, query, limit=None, lang=None, verbose=True)

参数	类型	必填 / 默认值	说明与约束
operation	string	None	Operation type (fixed: search_diseases)
query	string	必填	Search query - disease name or keyword (e.g., 'Marfan', 'muscular dystrophy')
limit	integer	None	Maximum number of results to return (default: 20, max: 200). The API may return thousands of fuzzy matches; use this to control output size.
lang	string	None	Language code (en, fr, de, es, it, pt, pl, nl). Default: en
verbose	bool	True	运行提示开关。

将疾病名称解析为 EFO 术语编号

dnakit.databases.osl_get_efo_id_by_disease_name(*, disease, verbose=True)

参数	类型	必填 / 默认值	说明与约束
disease	string	必填	Disease name or free-text query (e.g., 'diabetes mellitus').
verbose	bool	True	运行提示开关。