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Rare Diseases

Known as: Rare Disease, Rare Diseases [Disease/Finding], disease rare 
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis… 
National Institutes of Health

Related topics

Related topics

22 relations
Bile Acid Malabsorption, PrimaryChildhood Breast CarcinomaChildhood Colorectal CarcinomaChildhood Gastric Carcinoma

Narrower (3)

Oculootoradial syndromeOrphan DiseasesREVESZ SYNDROME (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2002
Review
2002
Clinical Features of Isolated Noncompaction of the Ventricular Myocardium
Purpose : Isolated noncompaction of the ventricular myocardium(INVM) is one of the unclassified cardiomyopathies that is… 
Highly Cited
1999
Highly Cited
1999
Genetic isolates: separate but equal?
The tiny volcanic island of Tristan da Cunha is the most remote inhabited place on Earth. It lies in the South Atlantic, 1,700… 
Review
1999
Review
1999
Diagnosis of acute basophilic leukemia.
De novo acute basophilic leukemia (ABL) is a rare form of acute leukemia. Most frequently, the blast cells are morphologically… 
Highly Cited
1998
Highly Cited
1998
Methotrexate treatment in Felty's syndrome.
Felty's syndrome is a rare disorder characterized as a systemic manifestation of severe rheumatoid arthritis associated with… 
Review
1997
Review
1997
Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.
Highly Cited
1993
Highly Cited
1993
A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Hereditary 1,25-dihydroxyvitamin D [1,25-(OH)2D]-resistant rickets (HVDRR) is a rare disorder characterized by rickets, alopecia… 
Review
1991
Review
1991
Spontaneous dissecting aneurysms of the basilar artery presenting with a subarachnoid hemorrhage. Report of two cases.
A spontaneous dissecting aneurysm of the basilar artery is a rare disorder, usually presenting with ischemia rather than a… 
Review
1988
Review
1988
Mitochondrial myopathies and respiratory chain proteins.
Review
1982
Review
1982
The long-term outcome of early onset anorexia nervosa. A critical review.
Abstract Anorexia nervosa is a serious psychosomatic disorder which most typically begins between 16 and 18 years of age… 
Highly Cited
1981
Highly Cited
1981
Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers.
Three patients had prolidase deficiencies. The family pedigree of these three patients suggests that this rare disorder is… 
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