TY  - GEN
AU  - Lopez-Martin, Estrella
AU  - Martinez-Delgado, Beatriz
AU  - Bermejo-Sanchez, Eva
AU  - Alonso, Javier
AU  - Posada De la Paz, Manuel
PY  - 2018
DO  - 10.3390/ijerph15081746
SN  - 1660-4601
UR  - http://hdl.handle.net/20.500.12105/7269
AB  - One of the IRDiRC goals for 2017⁻2027 is to achieve definitive diagnosis for rare undiagnosed diseases within one year, as delay in diagnosis remains one of the pending issues in the rare diseases field. The Spanish Undiagnosed Rare Diseases Program...
LA  - eng
PB  - Multidisciplinary Digital Publishing Institute (MDPI)
KW  - Diagnosis delay
KW  - International data sharing
KW  - Phenotype ontologies
KW  - Rare diseases
KW  - Standardized phenotype
KW  - Undiagnosed programs
KW  - Whole exome analysis
KW  - Genotype
KW  - Humans
KW  - Male
KW  - National Health Programs
KW  - Phenotype
KW  - Rare Diseases
KW  - Spain
KW  - Time-to-Treatment
TI  - SpainUDP: The Spanish Undiagnosed Rare Diseases Program
TY  - research article
ER  -