Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Hermansky–Pudlak_syndrome> ?p ?o }
- 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 icd10 "E70.3(ILDSE70.360)".
- Hermansky–Pudlak_syndrome icd9 "270.2".
- Hermansky–Pudlak_syndrome meshId "D022861".
- Hermansky–Pudlak_syndrome omim "203300".
- Hermansky–Pudlak_syndrome wikiPageExternalLink br.fcgi?book=gene&part=hps.
- Hermansky–Pudlak_syndrome wikiPageExternalLink HPS.html.
- Hermansky–Pudlak_syndrome wikiPageExternalLink www.hpsnetwork.org.
- Hermansky–Pudlak_syndrome wikiPageID "3452820".
- Hermansky–Pudlak_syndrome wikiPageLength "13290".
- Hermansky–Pudlak_syndrome wikiPageOutDegree "47".
- Hermansky–Pudlak_syndrome wikiPageRevisionID "707205436".
- Hermansky–Pudlak_syndrome wikiPageWikiLink AP3B1.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Adenosine_diphosphate.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Albinism.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Autosome.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Biogenesis_of_lysosome-related_organelles_complex_1.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Bleeding.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Category:Coagulopathies.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Category:Disturbances_of_human_pigmentation.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Category:IUIS-PID_table_3_immunodeficiencies.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Category:Rare_diseases.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Category:Syndromes.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Ceroid_lipofuscin.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Chromosome_10_(human).
- Hermansky–Pudlak_syndrome wikiPageWikiLink Desmopressin.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Dominance_(genetics).
- Hermansky–Pudlak_syndrome wikiPageWikiLink Dysbindin.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Epinephrine.
- Hermansky–Pudlak_syndrome wikiPageWikiLink František_Heřmanský.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Gastrointestinal_tract.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Gene.
- Hermansky–Pudlak_syndrome wikiPageWikiLink HPS1.
- Hermansky–Pudlak_syndrome wikiPageWikiLink HPS3.
- Hermansky–Pudlak_syndrome wikiPageWikiLink HPS4.
- Hermansky–Pudlak_syndrome wikiPageWikiLink HPS5.
- Hermansky–Pudlak_syndrome wikiPageWikiLink HPS6.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Heart.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Kidney.
- Hermansky–Pudlak_syndrome wikiPageWikiLink List_of_cutaneous_conditions.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Lung.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Lysosome.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Mutation.
- Hermansky–Pudlak_syndrome wikiPageWikiLink PLDN.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Pavel_Pudlák.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Pigment.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Platelet.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Platelet_storage_pool_deficiency.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Puerto_Rico.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Pulmonary_fibrosis.
- Hermansky–Pudlak_syndrome wikiPageWikiLink The_International_League_of_Dermatological_Societies.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Thrombin.
- Hermansky–Pudlak_syndrome wikiPageWikiLink Vitamin_E.
- Hermansky–Pudlak_syndrome wikiPageWikiLinkText "Hermansky–Pudlak syndrome".
- Hermansky–Pudlak_syndrome diseasesdb "29161".
- Hermansky–Pudlak_syndrome emedicinesubj "oph".
- Hermansky–Pudlak_syndrome emedicinetopic "713".
- Hermansky–Pudlak_syndrome genereviewsname "Hermansky-Pudlak Syndrome".
- Hermansky–Pudlak_syndrome genereviewsnbk "NBK1287".
- Hermansky–Pudlak_syndrome icd "270.2".
- 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 orphanet "79430".
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:Amino_acid_metabolic_pathology.
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:Citation_needed.
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:Dubious.
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:EMedicine2.
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:Inherited_disorders_of_trafficking.
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:Myeloid_hematologic_disease.
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:Pigmentation_disorders.
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:Reflist.
- Hermansky–Pudlak_syndrome wikiPageUsesTemplate Template:Use_dmy_dates.
- 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 hypernym Disorder.
- Hermansky–Pudlak_syndrome type Disease.
- Hermansky–Pudlak_syndrome type Disorder.
- Hermansky–Pudlak_syndrome type Error.
- Hermansky–Pudlak_syndrome type Redirect.
- Hermansky–Pudlak_syndrome type Syndrome.
- Hermansky–Pudlak_syndrome type Thing.
- Hermansky–Pudlak_syndrome type Q12136.
- 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 syndrome".
- Hermansky–Pudlak_syndrome sameAs Q1506216.
- 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 Sindrome_di_Hermansky-Pudlak.
- Hermansky–Pudlak_syndrome sameAs Zespół_Hermanskiego-Pudlaka.