| D008064 |
Lipidoses |
Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved. |
Lipidosis,Lipoidosis |
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| D008065 |
Lipoid Proteinosis of Urbach and Wiethe |
An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN. |
Lipoproteinosis,Urbach-Wiethe Disease,Hyalinosis Cutis et Mucosae,Lipoidproteinosis,Urbach-Wiethe Lipoid Proteinosis,Urbach-Wiethe Syndrome,Lipoid Proteinosis, Urbach-Wiethe,Urbach Wiethe Disease,Urbach Wiethe Lipoid Proteinosis |
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| D008297 |
Male |
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Males |
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| D010375 |
Pedigree |
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. |
Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical |
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| D010641 |
Phenotype |
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. |
Phenotypes |
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| D002648 |
Child |
A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. |
Children |
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| D002675 |
Child, Preschool |
A child between the ages of 2 and 5. |
Children, Preschool,Preschool Child,Preschool Children |
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| D005141 |
Eyelid Diseases |
Diseases involving the EYELIDS. |
Disease, Eyelid,Diseases, Eyelid,Eyelid Disease |
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| D005260 |
Female |
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Females |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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