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Medecine (English) NORD Complete) Diseases List of Rare Disorders

Medecine (English) NORD Complete) Diseases List of Rare Disorders

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Published by: yannick on Jul 08, 2009
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02/04/2013

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National Organizationfor Rare Disorders
(NORD)
Index of Rare DiseasesThis is the list of diseases currently covered in the Rare Disease Database. Rare Disease DatabaseSearch this database for reports on more than 1,150 diseases.
DISEASES INFORMATIONRESUMED LIST .
1
 
National Organizationfor Rare Disorders(NORD)
A
DISEASES INFORMATIONRESUMED LIST .
2
 
Synonyms of 5 Oxoprolinuria .
Pyroglutamic Aciduria
Pyroglutamicaciduria
Disorder Subdivisions
 
General Discussion
5-Oxoprolinuria is a biochemical finding that can arise from two underlying metabolicdisorders. It is characterized by excretion of massive amounts of the chemical 5-oxoproline.
Synonyms of Aarskog Syndrome .
AAS
Aarskog disease
Aarskog-Scott Syndrome
FGDY
Faciodigitogenital Syndrome
Faciogenital Dysplasia
Scott Aarskog syndrome
Disorder Subdivisions
 
General Discussion
Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that maynot become obvious until the child is about three years of age, broad facial abnormalities,musculoskeletal and genital anomalies, and mild mental retardation.
Synonyms of Aase Syndrome .
Aase-Smith Syndrome II
Congenital Anemia and Triphalangeal Thumbs
Hypoplastic Anemia-Triphalangeal Thumbs, Aase-Smith Type
Disorder Subdivisions
 
General Discussion
Aase syndrome is a rare genetic disorder that may be detected during early infancy. Thedisorder is primarily characterized by the presence of three bones (phalanges) within thethumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced productionof red blood cells (hypoplastic anemia). In some instances, additional abnormalities may be present. The exact cause of Aase syndrome is unknown. However, most evidence suggeststhat the disorder is inherited as an autosomal recessive trait.
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