is a Data Model or Ontology.
An ontology developed by the Monarch Initiative used to describe human phenotypic abnormalities seen in genetic disorders and clinical research. It provides a structured representation of abnormal characteristics associated with diseases. HPO helps researchers and clinicians share and integrate phenotypic data, making understanding and diagnosing genetic disorders easier. It uses a hierarchical organization and semantic relationships between terms and allows for annotation of genes and diseases. HPO is used in multiple diagnosis and variant prioritization tools, aiding healthcare professionals and researchers in identifying and classifying genetic conditions.
phenotype
Unknown
Unknown
Peter Robinson
Github: pnrobinson
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| hp.owl | Human Phenotype Ontology OWL release | hp.owl (71.8 MB) | DataModelProduct | owl | OWL release of HP |
| hp.obo | Human Phenotype Ontology OBO release | hp.obo (9.7 MB) | DataModelProduct | obo | OBO release of HP |
| hp.code | HP Code | human-phenotype-ontology | ProcessProduct | ❔ | Code for Human Phenotype Ontology |
| clinicalkg.graph | CKG Graph Dump | ❔ | GraphProduct | mixed | Neo4j database dump of the Clinical K... |
| drugmechdb.graph | DrugMechDB Graph Dataset | zenodo.8139357 | GraphProduct | mixed | Curated mechanistic drug–disease path... |
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| drug-approvals-kp.graph.nodes | Drug Approvals KP Graph Nodes | drug_approvals_kg_nodes_v0.3.7.tsv (354.9 KB) | GraphProduct | kgx | Nodes for the Drug Approvals KP, v0.3.7 |
| drug-approvals-kp.graph.edges | Drug Approvals KP Graph Nodes | drug_approvals_kg_nodes_v0.3.7.tsv (354.9 KB) | GraphProduct | kgx | Nodes for the Drug Approvals KP, v0.3.7 |
| mondo.sssom | MONDO SSSOM | mondo.sssom.tsv (1.4 MB) | MappingProduct | sssom | MONDO SSSOM. Mappings from MONDO iden... |
| ubkg.neo4j | UBKG Neo4j Docker Distribution | ubkg-downloads.xconsortia.org | GraphProduct | ❔ | Turnkey neo4j distributions that depl... |
| ubkg.csv | UBKG Ontology CSV Files | ubkg-downloads.xconsortia.org | GraphProduct | csv | Ontology CSV files that can be import... |
| rtx-kg2.graph.nodes | RTX-KG2.10.1c KGX JSONL Nodes | kg2c-2.10.1-v1.0-nodes.jsonl.gz (359.1 MB) | GraphProduct | kgx-jsonl | Nodes for KGX distribution of the RTX... |
| rtx-kg2.graph.edges | RTX-KG2.10.1c KGX JSONL Edges | kg2c-2.10.1-v1.0-edges.jsonl.gz (1.7 GB) | GraphProduct | kgx-jsonl | Edges for KGX distribution of the RTX... |
| rtx-kg2.neo4j | RTX-KG2 Neo4j | arax.ncats.io | ProgrammingInterface | ❔ | Neo4j distribution of the RTX-KG2 as ... |
| efo.owl | EFO OWL | efo.owl (229.5 MB) | DataModelProduct | owl | The latest release of EFO in OWL format |
| efo.obo | EFO OBO | efo.obo (61.1 MB) | DataModelProduct | obo | The latest release of EFO in OBO format |
| disgenet.data | DisGeNET Data | www.disgenet.com | GraphProduct | ❔ | DisGeNET data, including gene to dise... |
| mechreponet.kg | MechRepoNet Knowledge Graph | publication | ❔ | The MechRepoNet knowledge graph in it... | |
| indra.cogex.code | INDRA CoGEx Build Code | indra_cogex | ProcessProduct | ❔ | INDRA CoGEx is a graph database integ... |
| kg-monarch.graph | KGX Distribution of KG-Monarch | monarch-kg.tar.gz (220.2 MB) | GraphProduct | kgx | KGX Distribution of KG-Monarch |
| kg-monarch.graph.jsonl ⚠ | KGX JSON-L Distribution of KG-Monarch | monarch-kg.jsonl.tar.gz | GraphProduct | kgx-jsonl | KGX JSON-Lines Distribution of KG-Mon... |
| kg-monarch.graph.rdf | RDF Distribution of KG-Monarch | monarch-kg.nt.gz (838.5 MB) | GraphProduct | rdfxml | RDF Distribution of KG-Monarch |
| kg-monarch.graph.neo4j ⚠ | Neo4j Dump of KG-Monarch | monarch-kg.neo4j.dump | GraphProduct | ❔ | Neo4j Dump of KG-Monarch |
| kg-monarch.graph.duckdb ⚠ | DuckDB database of KG-Monarch | monarch-kg.duckdb.gz | GraphProduct | ❔ | DuckDB database of KG-Monarch |
| pheknowlator.graph | PheKnowLator graph | knowledge_graphs?pageState=(%22StorageObjectListTable%22:(%22f%22:%22%255B%255D%22))&inv=1&invt=Ab5_1Q&project=pheknowlator | GraphProduct | owl | PheKnowLator graph files, including s... |