hp

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.

Domains

phenotype

License

Custom

Homepage

hp

Repository

GitHub

Infores ID

Unknown

FAIRsharing ID

Unknown

Contacts

Peter Robinson

Github: pnrobinson

Products

From this Resource
ID Name URL Category Format Description
hp.owl Human Phenotype Ontology OWL release hp.owl DataModelProduct owl OWL release of HP
hp.obo Human Phenotype Ontology OBO release hp.obo DataModelProduct obo OBO release of HP
hp.code HP Code human-phenotype-ontology ProcessProduct Code for Human Phenotype Ontology
From other Resources
ID Name URL Category Format Description
drug-approvals-kp.graph.nodes Drug Approvals KP Graph Nodes drug_approvals_kg_nodes_v0.3.7.tsv 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 GraphProduct kgx Nodes for the Drug Approvals KP, v0.3.7
mondo.sssom MONDO SSSOM mondo.sssom.tsv 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 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 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 ...

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