Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Hermansky–Pudlak_syndrome> ?p ?o. }
Showing items 1 to 33 of
33
with 100 items per page.
- Hermansky–Pudlak_syndrome abstract "Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems.A ninth type has also been described. This last type is due to a mutation in the gene Pallidin (PLDN).".
- Hermansky–Pudlak_syndrome wikiPageID "3452820".
- Hermansky–Pudlak_syndrome wikiPageRevisionID "598761970".
- Hermansky–Pudlak_syndrome diseasesdb "29161".
- Hermansky–Pudlak_syndrome emedicinesubj "oph".
- Hermansky–Pudlak_syndrome emedicinetopic "713".
- Hermansky–Pudlak_syndrome icd "E70.3".
- Hermansky–Pudlak_syndrome meshid "D022861".
- Hermansky–Pudlak_syndrome name "Hermansky–Pudlak syndrome".
- Hermansky–Pudlak_syndrome omim "203300".
- Hermansky–Pudlak_syndrome subject Category:Amino_acid_metabolism_disorders.
- Hermansky–Pudlak_syndrome subject Category:Autosomal_recessive_disorders.
- Hermansky–Pudlak_syndrome subject Category:Coagulopathies.
- Hermansky–Pudlak_syndrome subject Category:Disturbances_of_human_pigmentation.
- Hermansky–Pudlak_syndrome subject Category:IUIS-PID_table_3_immunodeficiencies.
- Hermansky–Pudlak_syndrome subject Category:Rare_diseases.
- Hermansky–Pudlak_syndrome subject Category:Syndromes.
- Hermansky–Pudlak_syndrome type Disease.
- Hermansky–Pudlak_syndrome type Situation.
- Hermansky–Pudlak_syndrome comment "Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800.".
- Hermansky–Pudlak_syndrome label "Hermansky-Pudlak-Syndrom".
- Hermansky–Pudlak_syndrome label "Hermansky–Pudlak syndrome".
- Hermansky–Pudlak_syndrome label "Syndrome de Hermansky-Pudlak".
- Hermansky–Pudlak_syndrome label "Síndrome de Hermansky-Pudlak".
- Hermansky–Pudlak_syndrome label "Zespół Hermanskiego-Pudlaka".
- Hermansky–Pudlak_syndrome sameAs Hermansky%E2%80%93Pudlak_syndrome.
- Hermansky–Pudlak_syndrome sameAs Hermansky-Pudlak-Syndrom.
- Hermansky–Pudlak_syndrome sameAs Síndrome_de_Hermansky-Pudlak.
- Hermansky–Pudlak_syndrome sameAs Syndrome_de_Hermansky-Pudlak.
- Hermansky–Pudlak_syndrome sameAs Zespół_Hermanskiego-Pudlaka.
- Hermansky–Pudlak_syndrome sameAs Q1506216.
- Hermansky–Pudlak_syndrome sameAs Q1506216.
- Hermansky–Pudlak_syndrome wasDerivedFrom Hermansky–Pudlak_syndrome?oldid=598761970.