Hyperphosphatasia with mental retardation syndrome HPMRS also known as Mabry syndrome has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive […]
List of articles in "Disease" category - Page 33
Asphyxiating thoracic dysplasia
Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.It is also known as Jeune syndrome.It was described in 1955.Types include:
Chronic fatigue syndrome
Chronic fatigue syndrome (CFS) is the common name for a group of significantly debilitating medical conditions characterized by persistent fatigue and other specific symptoms that lasts for a minimum of […]
Postpericardiotomy syndrome
Postpericardiotomy syndrome (PPS) is a medical syndrome referring to an immune phenomenon that occurs days to months (usually 1โ6 weeks) after surgical incision of the pericardium (membranes encapsulating the human […]
Chorangioma
A chorangioma is a non-neoplastic hamartoma-like growth in the placenta consisting of blood vessels.
Lattice corneal dystrophy
Lattice corneal dystrophy type also known as Biber-Haab-Dimmer dystrophy is a rare form of corneal dystrophy. It has no systemic manifestations unlike the other type of the dystrophy Lattice corneal […]
Rheumatoid lung disease
Rheumatoid Lung Disease also called Rheumatoid Lung is a disease of the lung associated with rheumatoid arthritis. It is estimated that about one quarter of people with rheumatoid arthritis develop […]
D-Glyceric acidemia
D-Glyceric Acidemia (a.k.a. D-Glyceric Aciduria) is an inherited disease in the category of inborn errors of metabolism. It is caused by a mutation in the gene GLYCTK which encodes the […]
Terminal complement pathway deficiency
Terminal complement pathway deficiency is a genetic condition affecting the complement membrane attack complex (MAC).It involves deficiencies of C5 C6 C7 and C8. (While C9 is part of the MAC […]
Complement 4 deficiency
Complement 4 deficiency is a genetic condition affecting complement component 4.It can present with lupus-like symptoms.