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  1. lt_hpo.jsonld +64 -0
  2. lt_hpo.md +84 -0
  3. lt_hpo.obo +0 -0
lt_hpo.jsonld ADDED
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+ {
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+ "@context": "https://semiceu.github.io/MLDCAT-AP/releases/3.0.0/context/mldcat-ap.jsonld",
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+ "@type": "dcat:Dataset",
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+ "@id": "https://vssa.lrv.lt/dataset/LT_HPO",
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+ "dct:identifier": "LT_HPO",
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+ "dct:title": {
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+ "@value": "Žmogaus fenotipo ontologija lietuvių kalba",
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+ "@language": "lt"
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+ },
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+ "dct:description": {
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+ "@value": "Žmogaus fenotipo ontologija lietuvių kalba",
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+ "@language": "lt"
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+ },
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+ "it6:collectionDate": "2026-04-01",
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+ "dct:publisher": {
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+ "@type": "foaf:Agent",
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+ "foaf:name": "VSSA"
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+ },
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+ "dct:creator": {
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+ "@type": "foaf:Agent",
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+ "foaf:name": "MB TETRAGRAMA"
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+ },
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+ "dct:rightsHolder": {
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+ "@type": "foaf:Agent",
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+ "foaf:name": "VSSA"
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+ },
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+ "dct:license": {
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+ "@id": "https://creativecommons.org/publicdomain/zero/1.0/"
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+ },
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+ "dct:accessRights": {
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+ "@id": "http://publications.europa.eu/resource/authority/access-right/PUBLIC"
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+ },
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+ "dct:language": [
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+ {
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+ "@value": "lt"
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+ }
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+ ],
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+ "it6:version": "1.0",
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+ "dcat:landingPage": {
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+ "@id": "https://vssa.lrv.lt/lt/apie-vssa/projektai/zmogaus-fenotipo-ontologijos-lietuviu-kalba-sukurimas/"
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+ },
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+ "dcat:distribution": [
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+ {
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+ "@type": "dcat:Distribution",
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+ "@id": "https://vssa.lrv.lt/distribution/lt_hpo",
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+ "dct:title": {
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+ "@value": "Pagrindinė distribucija",
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+ "@language": "lt"
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+ },
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+ "dcat:accessURL": {
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+ "@id": "https://clarin-repo.lt/items/767aadb9-0f91-412b-959a-bba8497777ba"
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+ },
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+ "dcat:mediaType": {
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+ "@value": "application/zip"
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+ }
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+ }
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+ ],
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+ "adms:note": [
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+ {
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+ "@value": "Remiantis tarptautinėmis rekomendacijomis bei standartais (https://hpo.jax.org/app/) - sukurtas lietuvių kalbos išteklius – žmogaus fenotipo ontologija lietuvių kalba, kurioje yra susisteminti žmogaus fenotipų pokyčių įvairovę apibūdinantys terminai ir sąvokos.",
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+ "@language": "lt"
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+ }
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+ ]
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+ }
lt_hpo.md ADDED
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+ # LT_HPO: Lithuanian Human Phenotype Ontology
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+
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+ ## Overview
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+
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+ LT_HPO is a localized Lithuanian version of the Human Phenotype Ontology
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+ (HPO), designed to provide standardized terminology for describing human
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+ phenotypic abnormalities in Lithuanian clinical and research contexts.
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+
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+ The ontology preserves full structural compatibility with the original
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+ HPO, including identifiers, hierarchy, and logical relationships.
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+ Localization is limited to annotation-level modifications, such as
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+ translated labels, definitions, and comments.
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+
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+ ## Purpose
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+
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+ LT_HPO enables:
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+
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+ - Consistent documentation of phenotypic features in Lithuanian
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+ - Integration with international biomedical resources (e.g., OMIM,
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+ Orphanet, UMLS)
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+ - Use in clinical decision support, research, and data exchange
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+ - Semantic interoperability with the global HPO ecosystem
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+
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+ ## Data Model
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+
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+ The ontology is represented in OBO format and structured as a directed
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+ acyclic graph (DAG), where each term may have one or more parent terms
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+ (is_a relationships).
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+
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+ Each entry is defined as a \[Term\] block with the following fields:
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+
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+ ### Core Fields
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+
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+ - id\
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+ Unique identifier (e.g., HP:0000001) preserved from original HPO
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+
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+ - name\
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+ Lithuanian term label
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+
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+ - def\
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+ Lithuanian definition (if available)
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+
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+ ### Structural Fields
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+
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+ - is_a\
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+ Indicates hierarchical relationship to a more general parent term
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+
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+ -
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+
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+ ### Cross-references
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+
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+ - xref\
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+ Links to external biomedical databases and terminologies, such as
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+ UMLS, OMIM, Orphanet, SNOMED CT, NCIt, and MEDDRA
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+
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+ ### Metadata
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+
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+ - comment\
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+ Additional explanatory information in Lithuanian
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+
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+ - property_value\
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+ Structured metadata (e.g., terms:date -- translation or update
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+ timestamp)
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+
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+ ## Usage
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+
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+ LT_HPO can be used to annotate patient phenotypes, perform
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+ phenotype-driven analysis, map clinical findings to genetic diseases,
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+ and enable multilingual interoperability in biomedical systems.
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+
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+ ## Compatibility
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+
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+ - Fully compatible with original HPO identifiers and structure
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+ - No modifications to ontology logic or relationships
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+ - Extensions are limited to Lithuanian annotations and metadata
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+
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+ ## License and Attribution
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+
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+ LT_HPO is based on the Human Phenotype Ontology (HPO). Users must comply
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+ with HPO licensing requirements, including proper attribution and
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+ preservation of ontology structure.
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+
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+ Lithuanian translations and additional metadata are provided under CC0
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+ where applicable.
lt_hpo.obo ADDED
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