List of articles in "Disease" category - Page 113

Marie Unna hereditary hypotrichosis (also known as Marie Unna hypotrichosis) is an autosomal dominant condition characterized by scalp hair that is sparse or absent at birth with variable coarse wiry […]

A preauricular sinus or cyst (also known as a Congenital auricular fistula Congenital preauricular fistula Ear pit and Preauricular cyst) is a common congenital malformation characterized by a nodule dent […]

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It is also known as Greenberg dysplasia. Greenberg characterized the condition in 1988.It has been associated with the lamin B […]

Lathosterolosis is a defect in cholesterol biosynthesis.

Desmosterolosis is a defect in cholesterol biosynthesis.It has been associated with 24-dehydrocholesterol reductase.It results in an accumulation of desmosterol.

Clear-cell sarcoma (formerly known as malignant melanoma of the soft parts) is a rare form of cancer called sarcoma. It is known to occur mainly in the soft tissues and […]

Chondromyxoid fibroma is a type of cartilaginous tumor.It can be associated with a translocation at t(1;5)(p13;p13).A chondromyxoid fibroma (CMF) is an extremely rare benign cartilaginous neoplasm which accounts for < […]

A fibrous tissue neoplasm is a tumor derived primarily from Fibrous connective tissue.An example is fibroma.

Lenz–Majewski syndrome is a skin condition characterized by hyperostosis craniodiaphyseal dysplasia dwarfism cutis laxa proximal symphalangism syndactyly brachydactyly mental retardation enamel hypoplasia and hypertelorism.In 2013 whole-exome sequencing showed that a […]

Odonto–tricho-ungual–digital–palmar syndrome is an autosomal dominant skin condition with salient clinical features of natal teeth trichodystrophy prominent interdigital folds simian-like hands with transverse palmar creases and ungual digital dystrophy.