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Hermanski-Pudlak Syndrome
MeSH Descriptor Data 2025
Details
Qualifiers
MeSH Tree Structures
Concepts
MeSH Heading
Hermanski-Pudlak Syndrome
Tree Number(s)
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
Unique ID
D022861
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D022861
Scope Note
Syndrome characterized by the triad of oculocutaneous albinism (
ALBINISM, OCULOCUTANEOUS
);
PLATELET STORAGE POOL DEFICIENCY
; and lysosomal accumulation of ceroid lipofuscin.
Entry Term(s)
Hermansky-Pudlak Syndrome
NLM Classification #
WR 265
Previous Indexing
Albinism, Oculocutaneous (1990-2000)
Public MeSH Note
2001
History Note
2001
Date Established
2001/01/01
Date of Entry
2000/06/22
Revision Date
2016/07/01
Allowable Qualifiers
blood (BL)
cerebrospinal fluid (CF)
chemically induced (CI)
classification (CL)
complications (CO)
diagnosis (DI)
diagnostic imaging (DG)
diet therapy (DH)
drug therapy (DT)
economics (EC)
embryology (EM)
enzymology (EN)
epidemiology (EP)
ethnology (EH)
etiology (ET)
genetics (GE)
history (HI)
immunology (IM)
metabolism (ME)
microbiology (MI)
mortality (MO)
nursing (NU)
parasitology (PS)
pathology (PA)
physiopathology (PP)
prevention & control (PC)
psychology (PX)
radiotherapy (RT)
rehabilitation (RH)
surgery (SU)
therapy (TH)
urine (UR)
veterinary (VE)
virology (VI)
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 Diseases [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]
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]
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]
Expand All
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Hermanski-Pudlak Syndrome
Preferred
Concept UI
M0024620
Scope Note
Syndrome characterized by the triad of oculocutaneous albinism (
ALBINISM, OCULOCUTANEOUS
);
PLATELET STORAGE POOL DEFICIENCY
; and lysosomal accumulation of ceroid lipofuscin.
Terms
Hermanski-Pudlak Syndrome
Preferred Term
Term UI
T047882
Date
12/22/1989
LexicalTag
EPO
ThesaurusID
NLM (1991)
Hermansky-Pudlak Syndrome
Term UI
T459168
Date
08/28/2001
LexicalTag
NON
ThesaurusID
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