accessRights
type: RightsStatement
description: This resource has no access restriction

Duchenne Parent Project
type: Agent

Registries
type: DirectContainer
has member relation: hasPart

Data Service Profile

Duchenne Parent Project Dataset
type: Dataset
type: Resource
access rights: accessRights
description: The Duchenne Data Platform (DDP)'s Duchenne Parent Project is a patient-led registry. Patients are the owners of their data and have their own data lockers where they can not only collect their Patient Reported Outcomes (PROs) but can also upload their data from other sources such as hospitals and wearables.
keyword: Duchenne Muscular Dystrophy
keyword: Genetic data
keyword: PROs
keyword: PROMs
keyword: Clinical data
keyword: Becker Muscular Dystrophy
language: en
license: v1.0.txt
publisher: FAIR Data Systems S.L., on behalf of the Duchenne Parent Project
  type: Agent
landing page: https://dpp.worldduchenne.org/
theme: Orphanet_98896
theme: NCIT C141687
theme: NCIT C141702
theme: CMO_0000180
theme: NCIT C173346
theme: NCIT C20993
theme: NCIT C131922
theme: NCIT C141706
theme: NCIT C68615
theme: HP_0003270
theme: NCIT C101668
theme: NCIT C25656
theme: HP_0002014
theme: PATO_0001421
theme: NCIT C13306
theme: SIO_000031
theme: HP_0002020
theme: NCIT C138901
theme: SIO_010056
theme: NCIT C15383
theme: MP_0012106
theme: NCIT C132531
theme: NCIT C93300
theme: NCIT C136154
theme: NCIT C132555
theme: NCIT C28421
theme: HP_0009473
theme: HP_0003044
theme: NCIT C62103
theme: NCIT C25279
theme: Orphanet_98895
theme: CMO_0000005
theme: NCIT C121238
theme: NCIT C25597
theme: HP_0002987
theme: NCIT C156420
theme: HP_0002019
theme: NCIT C16457
theme: NCIT C176742
theme: NCIT C94198
theme: NCIT C94321
theme: Intermediate
theme: HP_0006380
theme: SIO_000032
theme: NCIT C130965
theme: CMO_0000294
theme: HP_0005997
theme: NCIT C15222
theme: HP_0006957
theme: HP_0000708
theme: NCIT C25271
theme: UBERON_0001434
theme: VPQueryable
theme: NCIT C13359
theme: HP_0000750
theme: NCIT C16576
theme: NCIT C156186
theme: NCIT C122920
theme: NCIT C171133
theme: HP_0001270
theme: NCIT C141689
theme: HP_0033333
theme: SIO_000061
theme: HP_0008981
theme: HP_0002650
theme: NCIT C20197

Catalog Profile

accessRights
type: RightsStatement
description: This resource has no access restriction

accessRights
type: RightsStatement
description: This resource has no access restriction

accessRights
type: RightsStatement
description: This resource has no access restriction

FAIR Data Point Profile

Data Services
type: DirectContainer
has member relation: service

Duchenne Data Platform Catalog
type: Resource
type: Catalog
access rights: accessRights
description: The Duchenne Data Platform (DDP) Catalog
is part of: Duchenne Parent Project: FAIR Data
issued: 2024-01-26T13:50:59.971820+00:00
keyword: Becker Muscular Dystrophy
keyword: Duchenne Muscular Dystrophy
language: en
license: v1.0.txt
modified: 2024-08-09T13:33:56.487294+00:00
publisher: FAIR Data Systems S.L., on behalf of the Duchenne Parent Project
  type: Agent
label: Biobanks
landing page: https://dpp.worldduchenne.org/
theme: Orphanet_98896
theme: Orphanet_98895
theme taxonomy: HP_0008366
theme taxonomy: NCIT C13306
theme taxonomy: SIO_000031
theme taxonomy: NCIT C15383
theme taxonomy: MP_0012106
theme taxonomy: NCIT C93300
theme taxonomy: NCIT C136154
theme taxonomy: NCIT C132555
theme taxonomy: NCIT C28421
theme taxonomy: HP_0009473
theme taxonomy: NCIT C62103
theme taxonomy: NCIT C25279
theme taxonomy: Orphanet_98895
theme taxonomy: NCIT C121238
theme taxonomy: NCIT C25656
theme taxonomy: NCIT C25597
theme taxonomy: HP_0002987
theme taxonomy: NCIT C156420
theme taxonomy: HP_0002019
theme taxonomy: PATO_0001421
theme taxonomy: NCIT C176742
theme taxonomy: NCIT C94198
theme taxonomy: NCIT C94321
theme taxonomy: HP_0002020
theme taxonomy: NCIT C138901
theme taxonomy: HP_0006380
theme taxonomy: SIO_000032
theme taxonomy: SIO_010056
theme taxonomy: NCIT C130965
theme taxonomy: NCIT C132531
theme taxonomy: CMO_0000294
theme taxonomy: HP_0005997
theme taxonomy: NCIT C15222
theme taxonomy: HP_0006957
theme taxonomy: HP_0000708
theme taxonomy: NCIT C25271
theme taxonomy: UBERON_0001434
theme taxonomy: HP_0003044
theme taxonomy: VPQueryable
theme taxonomy: CMO_0000005
theme taxonomy: HP_0000750
theme taxonomy: NCIT C13359
theme taxonomy: NCIT C156186
theme taxonomy: NCIT C122920
theme taxonomy: NCIT C171133
theme taxonomy: HP_0001270
theme taxonomy: NCIT C16457
theme taxonomy: NCIT C141689
theme taxonomy: SIO_000061
theme taxonomy: HP_0002650
theme taxonomy: CHEMINF_000047
theme taxonomy: Intermediate
theme taxonomy: NCIT C25711
theme taxonomy: NCIT C50276
theme taxonomy: NCIT C172685
theme taxonomy: NCIT C102559
theme taxonomy: NCIT C115805
theme taxonomy: NCIT C49887
theme taxonomy: NCIT C50184
theme taxonomy: NCIT C70810
theme taxonomy: HP_0000819
theme taxonomy: NCIT C125410
theme taxonomy: NCIT C16576
theme taxonomy: HP_0001263

Guidelines
type: DirectContainer
has member relation: hasPart

Catalogs
type: DirectContainer
has member relation: metadataCatalog
membership resource: Duchenne Parent Project: FAIR Data

KPI Diagnosis Delay
type: DataService
type: Resource
access rights: accessRights
description: Returns the Key Performance Indicator of the delay between symptom onset and diagnosis. This data is aggregated by disease, and by year of diagnosis, and is measured in days
keyword: diagnosis delay
keyword: key performance indicator
keyword: symptom to diagnosis delay
language: en
license: v1.0
publisher: Duchenne Parent Project
  type: Agent
type: KPI_000007
contact point: Agent
  url: https://www.duchenne-spain.org/que-es-duchenne/
endpoint description: swagger
endpoint URL: https://fairdata.services/api-local/kpi-ttd
keyword: symptom onset to diagnosis delay
landing page: https://www.duchenne-spain.org/que-es-duchenne/
theme: KPI_000007
theme: KeyPerformanceIndicatorAssessment
personal data: false
vp connection: VPDiscoverable
metadata identifier: identifier
metadata issued: 2024-07-30T17:30:23.550262+00:00
metadata modified: 2024-08-09T13:40:14.875882+00:00

Biobanks
type: DirectContainer
has member relation: hasPart

Distributions
type: DirectContainer
has member relation: distribution

Distribution Profile

Patient Count
type: DataService
type: Resource
access rights: accessRights
description: A shallot service providing the endpoint for the EJP Counting Case - a count of the number of patients in the registry that have a diagnosis specified by passing an ORPHA Code
keyword: Count
keyword: Counting Case
keyword: Patient Count
language: en
license: cc-by-nc-nd3.0
publisher: Duchenne Parent Project of the World Duchenne Organization
  type: Agent
type: CountingCase
contact point: Agent
  url: https://fairdata.systems
endpoint description: swagger
endpoint URL: https://fairdata.services/api-local/count
landing page: https://www.duchenne-spain.org/que-es-duchenne/
theme: CountingCase
theme: NCIT C25463
personal data: false
vp connection: VPDiscoverable
metadata identifier: identifier
metadata issued: 2024-05-22T11:51:32.282882+00:00
metadata modified: 2024-08-09T13:41:33.063629+00:00

accessRights
type: RightsStatement
description: This resource has no access restriction

accessRights
type: RightsStatement
description: This resource has no access restriction

accessRights
type: RightsStatement
description: This resource has no access restriction

Phenotype Count
type: DataService
type: Resource
access rights: accessRights
description: Performs a count of the number of times a phenotype appears in the database (i.e. how many patients in the database exhibit this phenotype)
keyword: frequency
keyword: count
keyword: phenotype frequency
language: en
license: v1.0
publisher: Duchenne Parent Project
  type: Agent
type: PhenotypeFrequency
contact point: Agent
  url: https://www.duchenne-spain.org/que-es-duchenne/
endpoint description: swagger
endpoint URL: https://fairdata.services/api-local/phenotype-frequencies
landing page: https://www.duchenne-spain.org/que-es-duchenne/
theme: NCIT C16977
theme: NCIT C4876
theme: NCIT C25463
theme: PhenotypeFrequency
personal data: false
vp connection: VPDiscoverable
metadata identifier: identifier
metadata issued: 2024-07-30T17:25:52.879011+00:00
metadata modified: 2024-08-09T13:42:36.085554+00:00

Datasets
type: DirectContainer
has member relation: dataset

Beacon2 Individuals search of the DPP
type: DataService
type: Resource
access rights: accessRights
description: An implementation of the Beacon2 "Individuals" endpoint for getting patient counts that match a query
keyword: Privacy-preserving query
keyword: Beacon2 Individuals
language: en
license: cc-by-nc-nd3.0
publisher: Duchenne Parent Project of the World Duchenne Organization
  type: Agent
type: VPBeacon2 individuals
contact point: Agent
  url: https://fairdata.systems
endpoint description: openapi.json
endpoint URL: http://fairdata.services:10002/individuals
landing page: https://www.duchenne-spain.org/que-es-duchenne/
theme: VPBeacon2 individuals
personal data: false
vp connection: VPDiscoverable
metadata identifier: identifier
metadata issued: 2024-05-22T12:14:01.601685+00:00
metadata modified: 2024-08-09T13:39:04.190156+00:00

Dataset Profile

Access Services
type: DirectContainer
has member relation: accessService

Duchenne Parent Project Data Distribution
type: Resource
type: Distribution
access rights: accessRights
description: DPP Data is available via a variety of privacy-preserving services, linked below
keyword: Becker Muscular Dystrophy
keyword: Duchenne Muscular Dystrophy
language: en
license: v1.0.txt
publisher: FAIR Data Systems S.L., on behalf of the Duchenne Parent Project
  type: Agent
label: Access Services
contact point: Agent
  url: https://www.worldduchenne.org/
landing page: https://dpp.worldduchenne.org/
media type: application/sparql-results+json
theme: Orphanet_98895
theme: Orphanet_98896
personal data: true
vp connection: VPDiscoverable
metadata identifier: identifier
metadata issued: 2024-01-26T14:04:25.990454+00:00
metadata modified: 2024-08-19T13:16:45.655407+00:00

accessRights
type: RightsStatement
description: This resource has no access restriction

Duchenne Parent Project: FAIR Data
type: MetadataService
type: Resource
type: FAIRDataPoint
access rights: accessRights
description: Clinical and Patient Reported data for Duchenne and Becker muscular dystrophy patients. Conceptual metadata only. For data access, speak to the publisher of the dataset.
keyword: Becker Muscular Dystrophy
keyword: Duchenne Muscular Dystrophy
language: en
license: cc-by-nc-nd3.0
publisher: Duchenne Parent Project
repository identifier: identifier
contact point: Agent
  url: https://www.worldduchenne.org/
landing page: https://dpp.worldduchenne.org/
theme: Orphanet_98896
theme: Orphanet_98895
version: 1.0
personal data: true
vp connection: VPDiscoverable
fdp software version: FDP:v1.16.2~51911d6
fdp software version: FDP:v1.17.1~9604e79
metadata identifier: identifier
metadata issued: 2024-01-26T11:51:14.258379+00:00
metadata modified: 2024-08-19T13:16:46.031738+00:00

Beacon2 v4 Individuals search of the DPP
type: DataService
type: Resource
access rights: accessRights
description: A Beacon2 version 4 'individuals' endpoint over CARE-SM data for the Duchenne Parent Project
language: en
license: cc-by-nc-nd3.0
publisher: Duchenne Parent Project of the World Duchenne Organization
  type: Agent
type: VPBeacon2 individuals 4
contact point: Agent
  url: https://fairdata.systems
endpoint description: openapi.json
endpoint URL: http://fairdata.services:10004/individuals
keyword: Beacon4 Individuals
landing page: https://www.duchenne-spain.org/que-es-duchenne/
theme: VPBeacon2 individuals 4
personal data: false
vp connection: VPDiscoverable
metadata identifier: identifier
metadata issued: 2024-08-19T12:42:44.458770+00:00
metadata modified: 2024-08-19T13:16:45.267263+00:00

accessRights
type: RightsStatement
description: This resource has no access restriction

Access Services
type: DirectContainer
has member relation: accessService