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Hermanski-Pudlak Syndrome
MeSH HeadingHermanski-Pudlak Syndrome
Tree NumberC11.270.040.545.400
Tree NumberC15.378.100.100.515
Tree NumberC15.378.100.685.400
Tree NumberC15.378.140.735.400
Tree NumberC15.378.463.735.400
Tree NumberC16.320.099.515
Tree NumberC16.320.290.040.100.400
Tree NumberC16.320.565.100.102.100.400
Tree NumberC16.320.850.080.100.400
Tree NumberC17.800.621.440.102.100.400
Tree NumberC17.800.827.080.100.400
Tree NumberC18.452.648.100.102.100.400
Scope NoteSyndrome characterized by the triad of oculocutaneous albinism ( ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
Entry TermHermansky-Pudlak Syndrome
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UL UR US VE VI
Previous Indexing Albinism, Oculocutaneous (1990-2000)
History Note2001
Date of Entry20000622
Unique IDD022861


MeSH Tree Structures

 
Eye Diseases [C11]
   Eye Diseases, Hereditary [C11.270]
      Albinism [C11.270.040]
         Albinism, Oculocutaneous [C11.270.040.545]
Hermanski-Pudlak Syndrome [C11.270.040.545.400]

 
Hemic and Lymphatic Diseases [C15]
   Hematologic Diseases [C15.378]
      Blood Coagulation Disorders [C15.378.100]
         Blood Coagulation Disorders, Inherited [C15.378.100.100]
Activated Protein C Resistance [C15.378.100.100.037]
Afibrinogenemia [C15.378.100.100.056]
Antithrombin III Deficiency [C15.378.100.100.075]
Bernard-Soulier Syndrome [C15.378.100.100.080]
Factor V Deficiency [C15.378.100.100.300]
Factor VII Deficiency [C15.378.100.100.310]
Factor X Deficiency [C15.378.100.100.320]
Factor XI Deficiency [C15.378.100.100.325]
Factor XII Deficiency [C15.378.100.100.330]
Factor XIII Deficiency [C15.378.100.100.335]
Hemophilia A [C15.378.100.100.500]
Hemophilia B [C15.378.100.100.510]
Hermanski-Pudlak Syndrome [C15.378.100.100.515]
Hypoprothrombinemias [C15.378.100.100.550]
Protein C Deficiency [C15.378.100.100.690]
Thrombasthenia [C15.378.100.100.820]
von Willebrand Disease [C15.378.100.100.900]
Wiskott-Aldrich Syndrome [C15.378.100.100.970]

 
Hemic and Lymphatic Diseases [C15]
   Hematologic Diseases [C15.378]
      Blood Coagulation Disorders [C15.378.100]
         Platelet Storage Pool Deficiency [C15.378.100.685]
Hermanski-Pudlak Syndrome [C15.378.100.685.400]

 
Hemic and Lymphatic Diseases [C15]
   Hematologic Diseases [C15.378]
      Blood Platelet Disorders [C15.378.140]
         Platelet Storage Pool Deficiency [C15.378.140.735]
Hermanski-Pudlak Syndrome [C15.378.140.735.400]

 
Hemic and Lymphatic Diseases [C15]
   Hematologic Diseases [C15.378]
      Hemorrhagic Disorders [C15.378.463]
         Platelet Storage Pool Deficiency [C15.378.463.735]
Hermanski-Pudlak Syndrome [C15.378.463.735.400]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Blood Coagulation Disorders, Inherited [C16.320.099]
Activated Protein C Resistance [C16.320.099.037]
Afibrinogenemia [C16.320.099.056]
Antithrombin III Deficiency [C16.320.099.075]
Bernard-Soulier Syndrome [C16.320.099.080]
Factor V Deficiency [C16.320.099.300]
Factor VII Deficiency [C16.320.099.310]
Factor X Deficiency [C16.320.099.320]
Factor XI Deficiency [C16.320.099.325]
Factor XII Deficiency [C16.320.099.330]
Factor XIII Deficiency [C16.320.099.335]
Hemophilia A [C16.320.099.500]
Hemophilia B [C16.320.099.510]
Hermanski-Pudlak Syndrome [C16.320.099.515]
Hypoprothrombinemias [C16.320.099.550]
Protein C Deficiency [C16.320.099.690]
Thrombasthenia [C16.320.099.820]
von Willebrand Disease [C16.320.099.900]
Wiskott-Aldrich Syndrome [C16.320.099.970]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Eye Diseases, Hereditary [C16.320.290]
         Albinism [C16.320.290.040]
            Albinism, Oculocutaneous [C16.320.290.040.100]
Hermanski-Pudlak Syndrome [C16.320.290.040.100.400]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Metabolism, Inborn Errors [C16.320.565]
         Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
            Albinism [C16.320.565.100.102]
               Albinism, Oculocutaneous [C16.320.565.100.102.100]
Hermanski-Pudlak Syndrome [C16.320.565.100.102.100.400]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Skin Diseases, Genetic [C16.320.850]
         Albinism [C16.320.850.080]
            Albinism, Oculocutaneous [C16.320.850.080.100]
Hermanski-Pudlak Syndrome [C16.320.850.080.100.400]

 
Skin and Connective Tissue Diseases [C17]
   Skin Diseases [C17.800]
      Pigmentation Disorders [C17.800.621]
         Hypopigmentation [C17.800.621.440]
            Albinism [C17.800.621.440.102]
               Albinism, Oculocutaneous [C17.800.621.440.102.100]
Hermanski-Pudlak Syndrome [C17.800.621.440.102.100.400]

 
Skin and Connective Tissue Diseases [C17]
   Skin Diseases [C17.800]
      Skin Diseases, Genetic [C17.800.827]
         Albinism [C17.800.827.080]
            Albinism, Oculocutaneous [C17.800.827.080.100]
Hermanski-Pudlak Syndrome [C17.800.827.080.100.400]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Metabolism, Inborn Errors [C18.452.648]
         Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
            Albinism [C18.452.648.100.102]
               Albinism, Oculocutaneous [C18.452.648.100.102.100]
Hermanski-Pudlak Syndrome [C18.452.648.100.102.100.400]

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