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Hermanski-Pudlak Syndrome
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
推出的年份: 2001
副标题
blood
cerebrospinal fluid
chemically induced
classification
complications
diagnosis
diagnostic imaging
diet therapy
drug therapy
economics
embryology
enzymology
epidemiology
ethnology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
parasitology
pathology
physiopathology
prevention and control
psychology
radiotherapy
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urine
veterinary
virology
树号:
C11.270.040.545.400, C15.378.100.100.515, C15.378.100.685.400, C15.378.140.735.400, C15.378.463.735.400, C16.320.099.515, C16.320.290.040.100.400, C16.320.565.100.102.100.400, C16.320.850.080.100.400, C17.800.621.440.102.100.400, C17.800.827.080.100.400, C18.452.648.100.102.100.400
MeSH 单一 ID:
D022861
进入的组:
Hermanski Pudlak Syndrome
Hermansky-Pudlak Syndrome
Hermansky Pudlak Syndrome
早前的内容:
Albinism, Oculocutaneous (1990-2000)
All MeSH Categories
Diseases Category
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]
All MeSH Categories
Diseases Category
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 Diseases [C15.378.100.100.900]
add_circle
Wiskott-Aldrich Syndrome [C15.378.100.100.970]
All MeSH Categories
Diseases Category
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]
All MeSH Categories
Diseases Category
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]
All MeSH Categories
Diseases Category
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]
All MeSH Categories
Diseases Category
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]
Gray Platelet Syndrome [C16.320.099.417]
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 Diseases [C16.320.099.920]
add_circle
Wiskott-Aldrich Syndrome [C16.320.099.970]
All MeSH Categories
Diseases Category
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]
All MeSH Categories
Diseases Category
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]
All MeSH Categories
Diseases Category
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]
All MeSH Categories
Diseases Category
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]
All MeSH Categories
Diseases Category
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]
All MeSH Categories
Diseases Category
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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