HealthSignal
Rare conditions starting with a number
Every condition in the NIH Genetic and Rare Diseases Information Center has its own HealthSignal community page, with condition information, stories, research and Signals sign-up.
111 conditions starting with a number
- 10q22.3q23.3 microduplication syndrome
- 11p partial monosomy syndrome
- 11p15.4 microduplication syndrome
- 11q partial monosomy syndrome
- 11q22.2q22.3 microdeletion syndrome
- 12q14 microdeletion syndrome
- 12q15q21.1 microdeletion syndrome
- 13q12.3 microdeletion syndrome
- 14q11.2 microduplication syndrome
- 14q24.1q24.3 microdeletion syndrome
- 14q32 duplication syndrome
- 15q overgrowth syndrome
- 15q11q13 microduplication syndrome
- 16p11.2p12.2 microduplication syndrome
- 16p12.1p12.3 triplication syndrome
- 16p13.11 microdeletion syndrome
- 16p13.11 microduplication syndrome
- 16q24.1 microdeletion syndrome
- 16q24.3 microdeletion syndrome
- 17p11.2 microduplication syndrome
- 17q11.2 microduplication syndrome
- 17q24.2 microdeletion syndrome
- 19p13.12 microdeletion syndrome
- 19p13.3 microduplication syndrome
- 1p21.3 microdeletion syndrome
- 1p35.2 microdeletion syndrome
- 1q44 microdeletion syndrome
- 2-aminoadipic 2-oxoadipic aciduria
- 2-hydroxyglutaric aciduria
- 2-methylacetoacetyl CoA thiolase deficiency
- 20p12.3 microdeletion syndrome
- 20p13 microdeletion syndrome
- 20q11.2 microdeletion syndrome
- 20q11.2 microduplication syndrome
- 20q13.33 microdeletion syndrome
- 21q22.11q22.12 microdeletion syndrome
- 22q11.2 deletion syndrome
- 2p13.2 microdeletion syndrome
- 2p21 microdeletion syndrome
- 2p21 microdeletion syndrome without cystinuria
- 2q23.1 microdeletion syndrome
- 2q23.1 microduplication syndrome
- 2q24 microdeletion syndrome
- 2q31.1 microdeletion syndrome
- 3 beta-Hydroxysteroid dehydrogenase deficiency
- 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
- 3-Hydroxyisobutyric aciduria
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
- 3-M syndrome
- 3-methylglutaconic aciduria type 1
- 3-Methylglutaconic aciduria type 2
- 3-Methylglutaconic aciduria type 3
- 3-methylglutaconic aciduria type 4
- 3-methylglutaconic aciduria type 5
- 3-methylglutaconic aciduria type 8
- 3-methylglutaconic aciduria type 9
- 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
- 3-methylglutaconic aciduria, type VIIB
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- 3MC syndrome
- 3p- syndrome
- 3p25.3 microdeletion syndrome
- 3q26 microduplication syndrome
- 3q26q27 microdeletion syndrome
- 3q27.3 microdeletion syndrome
- 4-hydroxyphenylacetic aciduria
- 45,X/46,XY mixed gonadal dysgenesis
- 46 XX gonadal dysgenesis
- 46,XX disorder of sex development-anorectal anomalies syndrome
- 46,XX disorder of sex development-skeletal anomalies syndrome
- 46,XX ovarian dysgenesis-short stature syndrome
- 46,XX ovotesticular disorder of sex development
- 46,XX testicular disorder of sex development
- 46,XY disorder of sex development
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- 46,XY ovotesticular disorder of sex development
- 46,XY partial gonadal dysgenesis
- 46,XY sex reversal 11
- 46,XY sex reversal 2
- 48,XXXY syndrome
- 48,XYYY syndrome
- 49,XXXXY syndrome
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- 4p partial monosomy syndrome
- 4p16.3 microduplication syndrome
- 4q25 proximal deletion syndrome
- 5-nucleotidase syndrome
- 5-Oxoprolinase deficiency
- 5p partial monosomy syndrome
- 5q14.3 microdeletion syndrome
- 5q35 microduplication syndrome
- 6-phosphogluconate dehydrogenase deficiency
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- 6p22 microdeletion syndrome
- 6q terminal deletion syndrome
- 6q16 deletion syndrome
- 7p22.1 microduplication syndrome
- 7q11.23 microduplication syndrome
- 7q31 microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- 8p11.2 deletion syndrome
- 8p23.1 duplication syndrome
- 8p23.1 microdeletion syndrome
- 8q12 microduplication syndrome
- 8q22.1 microdeletion syndrome
- 8q24.3 microdeletion syndrome
- 9p13 microdeletion syndrome
- 9q21.13 microdeletion syndrome
- 9q31.1q31.3 microdeletion syndrome
- 9q33.3q34.11 microdeletion syndrome
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