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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Blood Coagulation Disorders, Inherited > Hermanski-Pudlak Syndrome
Hemic and Lymphatic Diseases > Hematologic Diseases > Blood Coagulation Disorders > Blood Coagulation Disorders, Inherited > Hermanski-Pudlak Syndrome
Hemic and Lymphatic Diseases > Hematologic Diseases > Hemorrhagic Disorders > Platelet Storage Pool Deficiency > Hermanski-Pudlak Syndrome
Hemic and Lymphatic Diseases > Hematologic Diseases > Blood Platelet Disorders > Platelet Storage Pool Deficiency > Hermanski-Pudlak Syndrome
Hemic and Lymphatic Diseases > Hematologic Diseases > Blood Coagulation Disorders > Platelet Storage Pool Deficiency > Hermanski-Pudlak Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Albinism > Albinism, Oculocutaneous > Hermanski-Pudlak Syndrome
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Albinism > Albinism, Oculocutaneous > Hermanski-Pudlak Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Albinism > Albinism, Oculocutaneous > Hermanski-Pudlak Syndrome
Eye Diseases > Eye Diseases, Hereditary > Albinism > Albinism, Oculocutaneous > Hermanski-Pudlak Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Albinism > Albinism, Oculocutaneous > Hermanski-Pudlak Syndrome
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Albinism > Albinism, Oculocutaneous > Hermanski-Pudlak Syndrome
... > Pathological Conditions, Signs and Symptoms > Pathologic Processes > Pigmentation Disorders > Hypopigmentation > Albinism > Albinism, Oculocutaneous > Hermanski-Pudlak Syndrome
... > Skin and Connective Tissue Diseases > Skin Diseases > Pigmentation Disorders > Hypopigmentation > Albinism > Albinism, Oculocutaneous > Hermanski-Pudlak Syndrome

Preferred term

Hermanski-Pudlak Syndrome  

Type

  • mesh:Descriptor

Definition

  • Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

Broader concept

Synonym(s)

  • Hermansky-Pudlak Syndrome

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-V58W2C8X-G

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RDF/XML TURTLE JSON-LD Created 6/22/00, last modified 7/1/16