@prefix dcat: <http://www.w3.org/ns/dcat#> .
@prefix dct: <http://purl.org/dc/terms/> .
@prefix foaf: <http://xmlns.com/foaf/0.1/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<https://catalogue.genomica.gov.ro/dataset/d925294a-0c61-4eb0-a810-6edd67c8712f> a dcat:Dataset ;
    dct:accessRights <http://publications.europa.eu/resource/authority/access-right/RESTRICTED> ;
    dct:description "SYNTHETIC germline rare-disease use case. Family trios on the 1000G Phase 3 chr21 backbone with a synthetic pathogenic variant modelled on CBS c.833T>C (classic homocystinuria, autosomal recessive) and HPO phenotypes. CONTROLLED access: discovery and Beacon count only; record-level data and file delivery require an approved access request via REMS. Beacon dataset id ICDG_synthetic_rare_CBS_chr21. No patient data. See docs/use-cases-cancer-rare-disease.md."@en,
        "Caz de utilizare de boala rara germinala sintetica. Trio-uri familiale pe fundalul 1000G faza 3 chr21, cu o varianta patogena sintetica modelata pe CBS c.833T>C (homocistinurie clasica, autozomal recesiva) si fenotipuri HPO. Acces CONTROLAT: descoperire si numaratoare Beacon; datele la nivel de inregistrare necesita cerere de acces aprobata prin REMS. Date sintetice, fara date de pacient."@ro ;
    dct:identifier "ICDG_synthetic_rare_CBS_chr21" ;
    dct:issued "2026-07-29T13:23:33.292570"^^xsd:dateTime ;
    dct:modified "2026-07-29T13:23:33.292574"^^xsd:dateTime ;
    dct:publisher <https://catalogue.genomica.gov.ro/organization/ecdc2034-3047-4094-8e55-70f8c0b80c59> ;
    dct:title "Synthetic rare-disease cohort (CBS, homocystinuria) - ICDG use case"@en,
        "Cohorta sintetica de boala rara (CBS, homocistinurie) - caz de utilizare ICDG"@ro ;
    dcat:theme <Boli%20rare> .

<http://publications.europa.eu/resource/authority/access-right/RESTRICTED> a dct:RightsStatement .

<https://catalogue.genomica.gov.ro/organization/ecdc2034-3047-4094-8e55-70f8c0b80c59> a foaf:Agent ;
    foaf:name "Institutul de Cercetare-Dezvoltare în Genomică (ICDG)" .