Jansen’s metaphyseal chondrodysplasia or JMC is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor (PTHR1) due to one of three reported mutations […]
List of articles in "Disease" category - Page 259
Congenital nephrotic syndrome
Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body.
Blount’s disease
Blount’s disease is a growth disorder of the tibia (shin bone) that causes the lower leg to angle inward resembling a bowleg.It is also known as tibia vara.It is named […]
Atrial myxoma
An atrial myxoma is a benign tumor of the heart commonly found within the left and right atria on the interatrial septum.
Chronic myelomonocytic leukemia
Chronic myelomonocytic leukaemia (CMML) is a type of leukaemia which are cancers of the blood-forming cells of the bone marrow. In adults blood cells are formed in the bone marrow […]
Chondroblastoma
Chondroblastoma is a rare bone tumor usually benign with a slow-growing nature. In children it is the most common epiphyseal tumor.
Acute monocytic leukemia
Acute monocytic leukemia (AMoL or AML-M5) is considered a type of acute myeloid leukemia.
Spinocerebellar ataxia type-13
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder which like other types of SCA is characterized by dysarthria nystagmus and ataxia of gait stance and the limbs […]
Episodic ataxia
Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous muscle movement). There are seven types recognised but the […]
Lymphomatoid granulomatosis
Lymphomatoid granulomatosis (LYG or LG) is a very rare lymphoproliferative disorder first characterized in 1972 with lymphomatoid meaning lymphoma-like and granulomatosis denoting one of its microscopic character polymorphic lymphoid infiltrates […]