| D008052 |
Lipid Metabolism, Inborn Errors |
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. |
Lipid Metabolism, Inborn Error |
|
| D008297 |
Male |
|
Males |
|
| D005260 |
Female |
|
Females |
|
| D006017 |
Glycolipids |
Any compound containing one or more monosaccharide residues bound by a glycosidic linkage to a hydrophobic moiety such as an acylglycerol (see GLYCERIDES), a sphingoid, a ceramide (CERAMIDES) (N-acylsphingoid) or a prenyl phosphate. (From IUPAC's webpage) |
Glycolipid |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
|
| D000794 |
Angiokeratoma |
A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis. |
Angiokeratomas |
|
| D000795 |
Fabry Disease |
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. |
Anderson-Fabry Disease,Angiokeratoma Corporis Diffusum,Angiokeratoma Diffuse,Angiokeratoma, Diffuse,Ceramide Trihexosidase Deficiency,Fabry's Disease,GLA Deficiency,Hereditary Dystopic Lipidosis,alpha-Galactosidase A Deficiency,alpha-Galactosidase A Deficiency Disease,Anderson Fabry Disease,Deficiency, Ceramide Trihexosidase,Deficiency, GLA,Deficiency, alpha-Galactosidase A,Diffuse Angiokeratoma,Lipidosis, Hereditary Dystopic,alpha Galactosidase A Deficiency,alpha Galactosidase A Deficiency Disease |
|
| D012611 |
Scrotum |
A cutaneous pouch of skin containing the testicles and spermatic cords. |
Scrotums |
|
| D012878 |
Skin Neoplasms |
Tumors or cancer of the SKIN. |
Cancer of Skin,Skin Cancer,Cancer of the Skin,Neoplasms, Skin,Cancer, Skin,Cancers, Skin,Neoplasm, Skin,Skin Cancers,Skin Neoplasm |
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