| a_before_b |
Probability or fraction of A before B in an EHR signal |
| accession |
Dataset accession identifier as a CURIE (e |
| action |
The dietary action being applied |
| additional_requirements |
Additional requirements used in a criteria set |
| affected_cell_types |
Cell types in which gene expression is specifically gained or lost |
| affected_developmental_stage |
Developmental stage or temporal window in which expression is modularly lost ... |
| age_range |
Age range or stratification, if applicable |
| agent_life_cycle |
|
| allele_type |
Type of allele or mutation (e |
| alleles |
|
| animal_models |
|
| applies_to_subtypes |
Disease subtypes for which this hypothesis is intended to apply |
| assays |
|
| assertion_type |
Type/category of the external assertion or registry record |
| associated_phenotypes |
|
| association |
Free-text descriptor of how the gene is associated with the disease |
| association_signals |
Association signals from EHR, registry, or computational sources |
| b_before_a |
Probability or fraction of B before A in an EHR signal |
| background |
|
| base_model |
Parent/base model this is derived from (e |
| biochemical |
|
| biological_processes |
|
| biomarker_term |
Ontology term for a biomarker (from NCIT) |
| categories |
|
| category |
|
| causal_link_type |
Whether this edge is direct or indirect, and whether omitted intermediates ar... |
| cell_source |
Source of cells used in the experimental model |
| cell_type_term |
CL term for the cell type |
| cell_types |
|
| cellular_components |
|
| channelopathy_category |
Channelopathy organ system classification |
| chemical_entities |
|
| chemicals |
|
| children |
Names of other subtypes in this list that are members/children of this groupi... |
| classification |
Classification scheme this subtype belongs to (e |
| classification_value |
The classification value assigned |
| classifications |
Classification assignments for this disease from various nosologies |
| clinical_significance |
|
| clinical_trials |
Clinical trials relevant to disease treatment and research |
| code |
Code within the specified code system |
| code_system |
Code system used for a condition reference (e |
| combined_score |
Combined score used by an enrichment method |
| complementation_group |
Complementation group designation (e |
| components |
Component conditions that make up a composite descriptor |
| composition |
Composition type for a composite condition descriptor |
| computational_models |
Computational models (metabolic, mechanistic, ML, digital twins) for this dis... |
| conditions |
Experimental conditions or disease states represented |
| conforms_to |
Reference to a mechanism module that this pathophysiology node is an organ-sp... |
| consequence |
|
| consequences |
|
| consistency |
Consistency assertions for this mapping against other sources |
| consistent |
Consistency status for a mapping relative to a reference source |
| context |
|
| core_clinical_characteristics |
Core clinical characteristics used in a criteria set |
| creation_date |
ISO 8601/RFC 3339 timestamp string for when this disease entry was first crea... |
| criteria_sets |
Named criteria groupings within a definition |
| culture_system |
Culture format or device context used by the experimental model |
| curation_action |
Type of curation action performed |
| curation_description |
Human-readable description of changes made |
| curation_history |
Audit trail of AI-assisted curation events |
| curation_model |
Model identifier used for curation (e |
| curation_status |
Curation workflow status |
| curation_timestamp |
ISO 8601 timestamp of the curation event |
| data_type |
The type of omics or other data in the dataset |
| dataset_identifier |
Native identifier for this variable in the source dataset or model (e |
| datasets |
Publicly available datasets relevant to disease research |
| de_novo_rate |
Estimated percentage of de novo cases (e |
| definition_type |
The type of definition or criteria set |
| definitions |
Definitions or diagnostic criteria for this disease |
| demographics |
Demographic stratification for an association signal |
| description |
|
| diagnosis |
|
| diagnosis_term |
The MAXO term for this diagnostic procedure |
| diagnostic |
|
| dietary_modifications |
Structured dietary additions, restrictions, avoidances, or substitutions asso... |
| differential_diagnoses |
Differential diagnoses - similar diseases that must be ruled out |
| directionality |
Direction of a comorbidity/trajectory association |
| disease_a |
First disease in a comorbidity pair |
| disease_b |
Second disease in a comorbidity pair |
| disease_term |
The MONDO disease term for this disease |
| diseases |
|
| disorder_a_count |
Number of records/patients carrying disorder A in the source dataset |
| disorder_b_count |
Number of records/patients carrying disorder B in the source dataset |
| display_name |
Human-readable display name for a subtype, used when the name (which serves a... |
| distinguishing_features |
Key clinical, laboratory, imaging, or epidemiological features that help diff... |
| downstream |
|
| duration |
|
| duration_days |
|
| effect |
|
| environment_context |
The ENVO term for the environmental context/setting |
| environmental |
|
| epidemiology |
|
| evidence |
|
| evidence_source |
Origin of the evidence item (human clinical, model organism, in vitro, or com... |
| examples |
|
| exclusion_criteria |
Exclusion criteria for a definition or criteria set |
| experimental_model_type |
Broad category for an experimental model system |
| experimental_models |
Disease-relevant organoids, cell lines, chip systems, cocultures, and related... |
| explanation |
|
| exposure_term |
The ECTO/XCO term for this exposure event |
| exposures |
Environmental exposures studied in the dataset |
| expressivity |
Expressivity classification for this inheritance pattern |
| external_assertions |
External curated assertions or registry records relevant to this entity |
| external_id |
Identifier used by the external resource (e |
| factors |
|
| fdr |
FDR-adjusted p-value for an association or enrichment |
| features |
|
| finding_term |
Ontology term for a histopathologic finding (from NCIT or HP) |
| findings |
Key findings or claims extracted from this source (publication or dataset) |
| food |
The FOODON-bound food or beverage targeted by a dietary modification |
| food_source |
The FOODON or CHEBI term for a specific food, beverage, nutrient, mineral, or... |
| found_in |
Deep-research output files where this reference was cited |
| frequency |
|
| function |
|
| functional_effects |
|
| functional_impact |
Functional consequence of the genetic variant (e |
| gene |
|
| gene_products |
Gene products (proteins, fusion proteins, oncoproteins) involved in this path... |
| gene_term |
The HGNC term for this gene |
| genes |
|
| genetic |
|
| genetic_context |
The genetic context under which this qualification applies |
| genotype |
|
| geography |
|
| go_enrichment |
GO enrichment results associated with a signal |
| go_terms |
GO term enrichment results |
| harrisons_chapter |
Harrison's internal medicine chapter classification |
| has_subtypes |
|
| histopathology |
Histopathologic findings including microscopic morphology, architectural patt... |
| hosts |
|
| hypotheses |
Mechanistic or causal hypotheses about the association |
| hypothesis_group_id |
Stable identifier for a disease-level mechanistic hypothesis grouping |
| hypothesis_groups |
Hypothesis identifiers or grouping labels that this edge belongs to |
| hypothesis_label |
Human-readable label/title for a mechanistic hypothesis |
| icd10cm_mappings |
ICD-10-CM code mappings for this disease |
| icd11f_mappings |
ICD-11 Foundation code mappings for this disease |
| icdo_morphology |
ICD-O morphology classification (for neoplastic diseases) |
| id |
Ontology term identifier (CURIE) |
| identifiers |
|
| imaging_requirements |
Imaging requirements used in a criteria set |
| inclusion_criteria |
Inclusion criteria for a definition or criteria set |
| incubation_days |
|
| incubation_years |
|
| infectious_agent |
|
| infectious_agent_term |
The NCBITaxon term for this infectious agent |
| inheritance |
|
| inheritance_term |
The HPO mode of inheritance term for this inheritance pattern |
| intermediate_mechanisms |
Known or suspected intermediate mechanisms omitted from this edge for graph c... |
| iuis_category |
IUIS primary immunodeficiency classification |
| label |
Human-readable label for the ontology term |
| laboratory_requirements |
Laboratory or serologic requirements used in a criteria set |
| laterality |
Laterality qualifier (left, right, or bilateral) |
| life_cycle_stage_term |
The OPL term for this agent life cycle stage |
| life_cycle_stages |
|
| ligand |
Name of bound drug/ligand if this is a co-crystal structure |
| limited_precision |
Whether the signal has limited statistical precision due to small co-occurren... |
| literature_evidence |
Literature-based evidence items for this association |
| located_in |
Anatomical location where this entity/process occurs or procedure is performe... |
| locations |
|
| lysosomal_storage_category |
Lysosomal storage disease biochemical classification |
| mapping_justification |
Brief rationale or justification for the mapping |
| mapping_notes |
Notes on code-to-concept mapping decisions for this signal |
| mapping_predicate |
Relationship between this disease and the mapped term (e |
| mapping_source |
Source of the mapping (e |
| mappings |
External identifier mappings for this disease or subtype (SSSOM-inspired) |
| mappings_list |
Ontology term mappings for a model variable (LOINC, CHEBI, HP, etc |
| markers |
|
| max_age_years |
Maximum (latest) age of onset in years |
| maximum_value |
|
| mean_age_years |
Mean age of onset in years, as reported in a cohort study |
| mean_range |
|
| mechanism |
|
| mechanism_confidence |
Level of confidence in this pathophysiology mechanism |
| mechanisms |
|
| mechanistic_category |
Mechanistic/pathway-based disease classification |
| mechanistic_hypotheses |
Disease-level mechanistic hypotheses that group and annotate causal edges |
| method |
Method or pipeline name |
| metric_ci_lower |
Lower confidence interval bound |
| metric_ci_upper |
Upper confidence interval bound |
| metric_type |
Metric type (e |
| metric_value |
Metric value |
| metrics |
Quantitative association metrics |
| min_age_years |
Minimum (earliest) age of onset in years |
| minimum_required |
Minimum number of criteria required in this criteria set |
| minimum_value |
|
| model_format |
File format (e |
| model_id |
Identifier within the repository (e |
| model_software |
Software/toolbox for running the model (e |
| model_type |
Type of computational model |
| modeled_mechanisms |
Pathophysiology mechanism nodes/assertions that this experimental model is in... |
| modeling_considerations |
|
| modifier |
Directional or qualitative modifier for a descriptor (e |
| molecular_functions |
|
| mondo_mappings |
MONDO disease ontology mappings for this disease |
| name |
|
| namo_type |
Optional mapping to the corresponding NAMO class, such as namo:Organoid or ... |
| ncit_mappings |
NCIT disease, subtype, or disease/finding mappings |
| notes |
|
| onset |
Structured age of onset descriptor |
| onset_category |
HPO onset category (e |
| organism |
The organism from which samples were derived |
| overlap |
Overlap fraction for an enrichment term |
| p_value |
P-value for an association or enrichment |
| pair_count |
Number of records/patients with co-occurrence of disorder A and disorder B in... |
| parent_of_origin_effect |
Parent-of-origin effect or bias (e |
| parents |
|
| pathophysiology |
|
| pathways |
|
| pdb_id |
PDB accession code (e |
| pdb_structures |
Experimental or predicted 3D protein structures relevant to this treatment's ... |
| penetrance |
Penetrance classification for this inheritance pattern |
| penetrance_percentage |
Estimated penetrance percentage or range (e |
| percentage |
|
| perturbations |
Gene knockouts, reaction deletions, or parameter changes modeling the disease |
| phase |
|
| phenotype_contexts |
Context-specific qualifications of this phenotype's frequency, severity, or o... |
| phenotype_term |
The HP term for this phenotype |
| phenotypes |
|
| platform |
Sequencing or array platform used |
| population |
Population or cohort description (e |
| precision_count_threshold |
Co-occurrence count threshold used to flag limited precision |
| predicate |
The relationship/predicate in a qualifier (e |
| preferred_term |
The preferred human-readable term for this descriptor |
| presence |
|
| prevalence |
|
| progression |
|
| protein_complexes |
Protein complexes that gene products participate in |
| publication |
Associated publication (PMID) |
| qualifiers |
List of predicate-value pairs for formal post-composition |
| reference |
The authoritative reference (publication) for this evidence item |
| reference_title |
The title of the referenced publication |
| references |
Top-level list of references with their key findings for this disease |
| regimen_term |
The NCIT term for this treatment regimen |
| regulatory_category |
Functional classification of a variant's impact on gene expression, using the... |
| regulatory_element_type |
Type of gene regulatory element disrupted by a non-coding variant (e |
| regulatory_mechanism |
The specific molecular mechanism by which the regulatory variant exerts its e... |
| relationship_type |
Controlled-vocabulary classification of the gene-disease relationship (e |
| repository_url |
URL to model repository (GitHub, BiGG, VMH, BioModels) |
| resolution_angstrom |
Structure resolution in angstroms (for experimental structures) |
| results |
|
| review_notes |
|
| role |
|
| same_time |
Probability or fraction of A and B occurring in the same time window |
| sample_count |
Total number of samples in the dataset |
| sample_types |
Types of biological samples in the dataset |
| scope |
Scope or population for which the definition applies (e |
| sequelae |
|
| sequence_length |
|
| severity |
|
| severity_scale |
Ordered list of severity tiers, each a value-label pair |
| sex |
Sex-specific stratum, if applicable |
| shared_upstream_hypotheses |
Suspected upstream conditions that may explain both A and B |
| signal_disorder_a_id |
Original identifier for disorder A in this signal (CURIE, e |
| signal_disorder_b_id |
Original identifier for disorder B in this signal (CURIE, e |
| slug |
Canonical slug identifier (Title_Case_With_Underscores) for leaf conditions |
| snippet |
An exact excerpt/quote from the referenced publication that supports or refut... |
| source |
Source dataset or provenance label |
| spatial_extent |
The spatial extent or distribution pattern of this phenotype or process (e |
| species |
|
| specificity |
|
| stages |
|
| statement |
A key finding or claim from the publication |
| statistics |
Statistical summary for an association signal |
| status |
Status or state of a clinical trial or other process |
| substages |
|
| subtype |
|
| subtype_frequency |
Frequency of this subtype among all cases of the parent disease (e |
| subtype_term |
The ontology term grounding this subtype or cancer facet value |
| subtypes |
Names of subtypes (foreign keys to this disease's `has_subtypes[] |
| supporting_text |
Exact excerpt/quote from the publication supporting the statement |
| supports |
|
| synonyms |
|
| target |
The name of the target element in a causal relationship |
| target_mechanisms |
Pathophysiology mechanism nodes that this treatment targets or modulates |
| target_phenotypes |
Phenotypes that this treatment or trial addresses or targets |
| target_protein |
Name of the protein target in the structure |
| term |
Optional structured ontology term reference |
| therapeutic_agent |
The drug, chemical, or therapeutic agent used in a treatment |
| threshold |
Numeric threshold at which this mapping activates (e |
| threshold_direction |
Whether the threshold activates when the variable goes above or below the val... |
| tissue_term |
UBERON term for the tissue |
| title |
Title of the publication |
| tracked_issue_role |
Role this tracked issue plays relative to the dismech content it is attached ... |
| tracked_issue_status |
Last known status of the tracked issue (e |
| tracked_issues |
Structured pointers to external tracker issues (e |
| transmission |
|
| treatment_effect |
How the treatment affects the targeted mechanism |
| treatment_term |
The MAXO term for this treatment/medical action |
| treatments |
|
| triggers |
|
| type |
|
| unit |
|
| updated_date |
ISO 8601/RFC 3339 timestamp string for when this disease entry was last updat... |
| upstream_disorder |
Upstream disorder referenced in a hypothesis |
| url |
URL for the external assertion or registry record |
| value |
The value/filler in a qualifier |
| variables |
Variables/outputs of a computational model with ontology mappings |
| variant_origin |
The origin of disease-associated variation in this gene (germline, somatic, d... |
| variants |
|
| vectors |
|
| zygosity |
Zygosity context |