| D007644 |
Darier Disease |
An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES. |
Acrokeratosis Verruciformis of Hopf,Darier-White Disease,Keratosis Follicularis,Acantholytic Dyskeratotic Epidermal Nevi,Acantholytic Dyskeratotic Epidermal Nevus,Acrokeratosis Verruciformis,Darier's Disease,Hopf Disease,Darier White Disease,Darier-White Diseases,Dariers Disease,Disease, Darier,Disease, Darier's,Disease, Darier-White,Disease, Hopf,Diseases, Darier-White,Diseases, Hopf,Hopf Acrokeratosis Verruciformis,Hopf Diseases,Verruciformis, Acrokeratosis |
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| D008297 |
Male |
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Males |
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| D003937 |
Diagnosis, Differential |
Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. |
Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis |
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| D004935 |
Esophageal Diseases |
Pathological processes in the ESOPHAGUS. |
Disease, Esophageal,Diseases, Esophageal,Esophageal Disease |
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| D004947 |
Esophagus |
The muscular membranous segment between the PHARYNX and the STOMACH in the UPPER GASTROINTESTINAL TRACT. |
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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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| D001706 |
Biopsy |
Removal and pathologic examination of specimens from the living body. |
Biopsies |
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| D016099 |
Endoscopy, Gastrointestinal |
Endoscopic examination, therapy or surgery of the gastrointestinal tract. |
Endoscopic Gastrointestinal Surgical Procedures,Surgical Procedures, Endoscopic Gastrointestinal,Endoscopic Gastrointestinal Surgery,Gastrointestinal Endoscopic Surgical Procedures,Procedure, Endoscopic Gastrointestinal, Surgical,Procedure, Gastrointestinal Endoscopic Surgical,Procedures, Endoscopic Gastrointestinal, Surgical,Procedures, Gastrointestinal Endoscopic Surgical,Surgical Procedure, Endoscopic Gastrointestinal,Endoscopic Gastrointestinal Surgeries,Endoscopies, Gastrointestinal,Gastrointestinal Endoscopies,Gastrointestinal Endoscopy,Gastrointestinal Surgeries, Endoscopic,Gastrointestinal Surgery, Endoscopic,Surgeries, Endoscopic Gastrointestinal,Surgery, Endoscopic Gastrointestinal |
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| D055815 |
Young Adult |
A person between 19 and 24 years of age. |
Adult, Young,Adults, Young,Young Adults |
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