Category:Rare diseases
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A rare disease is technically defined as a disease that is found in fewer than 5 people per every 10,000 people.
Subcategories
This category has the following 3 subcategories, out of 3 total.
Pages in category "Rare diseases"
The following 200 pages are in this category, out of 16,026 total.
(previous page) (next page)- 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency
- 10p deletion
- 10p monosomy
- 10p trisomy
- 10q deletion
- 10q duplication
- 10q monosomy
- 10q trisomy
- 11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of
- 11p deletion
- 11p deletion syndrome
- 11p duplication
- 11p monosomy
- 11p trisomy
- 11p11.2 deletion
- 11q deletion
- 11q duplication
- 11q monosomy
- 11q trisomy
- 12p deletion
- 12p duplication
- 12p monosomy
- 12p trisomy
- 12q deletion
- 12q duplication
- 12q monosomy
- 12q trisomy
- 13q deletion
- 13q duplication
- 13q monosomy
- 13q trisomy
- 14q deletion
- 14q duplication
- 14q monosomy
- 14q trisomy
- 14q22-q23 microdeletion syndrome
- 14q22q23 microdeletion syndrome
- 15q deletion
- 15q duplication
- 15q monosomy
- 15q trisomy
- 15q11.2 BP1-BP2 microdeletion syndrome
- 15q11.2 microdeletion syndrome
- 15q13.3 microdeletion
- 15q13.3 microduplication
- 15q25.2 deletion
- 15q25.2 deletion syndrome
- 16p deletion
- 16p duplication
- 16p monosomy
- 16p trisomy
- 16p11.2 duplication syndrome
- 16p11.2 microduplication
- 16p13.3 deletion syndrome
- 16p13.3 duplication
- 16p13.3 microduplication syndrome
- 16q deletion
- 16q duplication
- 16q monosomy
- 16q trisomy
- 17 alpha ketosteroid reductase deficiency of testis
- 17 alpha KSR deficiency
- 17 beta hydroxysteroid dehydrogenase III deficiency
- 17 beta-hydroxysteroid dehydrogenase type 10 deficiency
- 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY
- 17p deletion
- 17p duplication
- 17p monosomy
- 17p trisomy
- 17p13.1 deletion syndrome
- 17q deletion
- 17q duplication
- 17q monosomy
- 17q trisomy
- 17q11 microdeletion syndrome
- 17q12 microdeletion syndrome
- 17q12 microduplication
- 17q12 microduplication syndrome
- 17q12 recurrent deletion syndrome
- 17q21.31 deletion syndrome
- 17q21.31 microdeletion syndrome
- 17q23.1-q23.2 microdeletion syndrome
- 18 alpha hydroxylase deficiency
- 18 trisomy
- 18p duplication
- 18p trisomy
- 18p-
- 18q duplication
- 18q partial trisomy
- 18q trisomy
- 19p deletion
- 19p duplication
- 19p monosomy
- 19p trisomy
- 19q deletion
- 19q duplication
- 19q monosomy
- 19q trisomy
- 1p deletion
- 1p duplication
- 1p monosomy
- 1p trisomy
- 1p36 deletion syndrome
- 1q deletion
- 1q monosomy
- 1q21.1 microdeletion
- 1q21.1 microduplication syndrome
- 1q41-q42 deletion syndrome
- 1q41-q42 microdeletion syndrome
- 2 alpha ketoglutarate dehydrogenase deficiency
- 2,4-alpha dienoyl-CoA reductase deficiency
- 2,8-dihydroxyadenine urolithiasis
- 2-HEMA sensitization
- 2-methyl-3-hydroxybutyricacidemia
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
- 2-methylbutyric aciduria
- 20p deletion
- 20p duplication
- 20p monosomy
- 20p trisomy
- 20q deletion
- 20q duplication
- 20q monosomy
- 20q trisomy
- 21 hydroxylase deficiency
- 21q deletion
- 21q duplication
- 21q monosomy
- 21q trisomy
- 22q deletion
- 22q monosomy
- 22q11.2 duplication
- 22q11.2 microduplication syndrome
- 22q13 deletion
- 22q13.3 deletion
- 2M3HBA
- 2p deletion
- 2p duplication
- 2p monosomy
- 2p trisomy
- 2p15-p16.1 microdeletion syndrome
- 2q deletion
- 2q duplication
- 2q monosomy
- 2q trisomy
- 2q24 deletion
- 2q24 microdeletion syndrome
- 2q32-q33 microdeletion syndrome
- 2q32q33 microdeletion syndromes
- 3 alpha methylglutaconic aciduria type I
- 3 alpha methylglutaconic aciduria type IV
- 3 methylglutaconic aciduria type 1
- 3 methylglutaconic aciduria type IV
- 3 methylglutaconyl CoA hydratase deficiency
- 3-alpha beta-hydroxy-delta-5-c27-steroid oxidoreductase, deficiency of
- 3-alpha methylglutaconic aciduria type III
- 3-beta-HSD deficiency
- 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
- 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
- 3-hydroxy-3-methylglutaric aciduria
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-hydroxyacyl-CoA dehydrogenase long chain deficiency
- 3-Hydroxyisobutyryl-CoA hydrolase deficiency
- 3-hydroxylacyl-CoA dehydrogenase deficiency
- 3-ketothiolase deficiency
- 3-M syndrome
- 3-MCC deficiency
- 3-methylcrotonylglycinuria
- 3-methylglutaconic aciduria type 5
- 3-methylglutaconic aciduria type II
- 3-methylglutaconic aciduria type III
- 3-methylglutaconic aciduria type VI
- 3-methylglutaconic aciduria, type V
- 3-MGCA type I (3-MGCA-1)
- 3-MGCA type IV (3-MGCA-4) (formerly)
- 3-MGCA type IV (formerly)
- 3-MGCA-4 (formerly)
- 3-MSBN
- 3-oxoacid CoA transferase deficiency
- 3-oxothiolase deficiency
- 3-phosphoglycerate dehydrogenase deficiency, neonatal form
- 3b-hydroxysteroid dehydrogenase deficiency
- 3C syndrome
- 3H2MBD deficiency
- 3M1
- 3MCC
- 3MG CoA hydratase deficiency
- 3p duplication
- 3p partial deletion
- 3p trisomy
- 3p- syndrome
- 3q deletion
- 3q monosomy
- 3q subtelomere deletion syndrome
- 3q29 deletion
- 3q29 deletion syndrome
- 3qter deletion
- 4 alpha aminobutyrate transaminase deficiency
- 4 alpha hydroxy-L-proline oxidase deficiency
- 4-alpha hydroxyphenylpyruvate dioxygenase deficiency