Rare Disease Ghana Initiative

List of Rare Diseases

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10p12p11 microdeletion syndrome
10q22.3q23.3 microdeletion syndrome
10q22.3q23.3 microduplication syndrome
10q24 microduplication syndrome
11-beta-hydroxysteroid dehydrogenase deficiency type 1
11-beta-hydroxysteroid dehydrogenase deficiency type 2
11p11.2 deletion
11p15.4 microduplication syndrome
11q22.2q22.3 microdeletion syndrome
12p12.1 microdeletion syndrome
12p13.33 microdeletion syndrome
12q14 microdeletion syndrome
12q15q21.1 microdeletion syndrome
13q12.3 microdeletion syndrome
13q32 deletion
14q11.2 microdeletion syndrome
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
14q22q23 microdeletion syndrome
14q22-q23 microdeletion syndrome
14q24.1q24.3 microdeletion syndrome
14q32 duplication syndrome
15q11.2 BP1-BP2 microdeletion syndrome
15q11.2 microdeletion syndrome
15q11q13 duplication syndrome
15q11q13 microduplication syndrome
15q13.3 microdeletion syndrome
15q14 microdeletion syndrome
15q24 microdeletion syndrome
15q26.3 microdeletion syndrome
15q26 deletion syndrome
15q overgrowth syndrome
16p11.2p12.2 microdeletion syndrome
16p11.2p12.2 microduplication syndrome
16p12.1p12.3 triplication syndrome
16p13.11 microdeletion syndrome
16p13.11 microduplication syndrome
16p13.2 microdeletion syndrome
16p13.3 microduplication syndrome
16q24.1 microdeletion syndrome
16q24.3 microdeletion syndrome
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
17p11.2 microdeletion syndrome
17p11.2 microduplication syndrome
17p11.2p12 microduplication syndrome
17p13.3 duplication syndrome
17p13.3 microduplication syndrome
17q11.2 microduplication syndrome
17q11 microdeletion syndrome
17q12 microdeletion syndrome
17q12 microduplication syndrome
17q21.31 microdeletion syndrome
17q21.31 microduplication syndrome
17q23.1q23.2 microdeletion syndrome
17q24.2 microdeletion syndrome
18p- syndrome
18q deletion syndrome
18q- syndrome
19p13.12 microdeletion syndrome
19p13.13 microdeletion syndrome
19p13.3 microduplication syndrome
19q13.11 microdeletion syndrome
1-alpha-hydroxylase deficiency
1p21.3 microdeletion syndrome
1p31p32 microdeletion syndrome
1p35.2 microdeletion syndrome
1p36 deletion syndrome
1q21.1 microdeletion syndrome
1q21.1 microduplication syndrome
1q41q42 microdeletion syndrome
1q44 microdeletion syndrome
20p12.3 microdeletion syndrome
20p13 microdeletion syndrome
20p subtelomeric deletion syndrome
20q11.2 microdeletion syndrome
20q11.2 microduplication syndrome
20q13.33 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
21q22.13q22.2 microdeletion syndrome
21q deletion syndrome
21q- syndrome
22q11.2 deletion syndrome
22q11.2 microduplication syndrome
22q11DS
22q13 deletion
2,4-dienoyl-CoA reductase deficiency
2,8-dihydroxyadenine urolithiasis
2-aminoadipic 2-oxoadipic aciduria
2A syndrome
2-hydroxyglutaric acidemia
2-hydroxyglutaric aciduria
2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyric aciduria, neonatal type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
2-methylacyl-CoA racemase deficiency
2-methylbutyric aciduria
2-methylbutyryl-CoA dehydrogenase deficiency
2-oxoglutarate complex deficiency
2p13.2 microdeletion syndrome
2p15p16.1 microdeletion syndrome
2p21 contiguous gene deletion syndrome
2p21 deletion syndrome
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
2q23.1 microdeletion syndrome
2q23.1 microduplication syndrome
2q24 microdeletion syndrome
2q31.1 microdeletion syndrome
2q32q33 microdeletion syndrome
2q33.1 microdeletion syndrome
2q37 microdeletion syndrome
3A syndrome
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
3C syndrome
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyisobutyric aciduria
3-ketothiolase deficiency
3MC syndrome
3-mercaptopyruvate sulfurtransferase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria
3-methylglutaconic aciduria
3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability 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 7
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome
3-methylglutaconyl-CoA hydratase deficiency
3MG-CoA hydratase deficiency
3M syndrome
3-M syndrome
3-oxothiolase deficiency
3p25.3 microdeletion syndrome
3-Phosphoglycerate dehydrogenase deficiency
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
3-phosphoglycerate dehydrogenase deficiency, neonatal form
3-phosphoserine phosphatase deficiency
3p- syndrome
3q13 microdeletion syndrome
3q26 microduplication syndrome
3q26q27 microdeletion syndrome
3q27.3 microdeletion syndrome
3q29 microdeletion syndrome
3q29 microduplication syndrome
3q subtelomere deletion syndrome
3qter deletion
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
45,X/46,XX syndrome
45,X/46,XY MGD
45,X/46,XY mixed gonadal dysgenesis
45,X syndrome
46,XX/46,XY chimerism
46,XX complete gonadal dysgenesis
46,XX disorder of gonadal development
46,XX disorder of sex development
46,XX disorder of sex development-anorectal anomalies syndrome
46,XX disorder of sex development induced by androgens excess
46,XX disorder of sex development induced by endogenous maternal-derived androgen
46,XX disorder of sex development induced by exogenous maternal-derived androgen
46,XX disorder of sex development induced by fetal androgens excess
46,XX disorder of sex development induced by fetoplacental androgens excess
46,XX disorder of sex development induced by maternal-derived androgen
46,XX disorder of sex development-skeletal anomalies syndrome
46,XX DSD
46,XX DSD induced by androgens excess
46,XX DSD induced by endogenous maternal-derived androgen
46,XX DSD induced by exogenous maternal-derived androgen
46,XX DSD induced by fetal androgens excess
46,XX DSD induced by fetoplacental androgens excess
46,XX DSD induced by maternal-derived androgen
46,XX gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX ovarian dysgenesis-short stature syndrome
46,XX ovotesticular disorder of sex development
46,XX ovotesticular DSD
46,XX pure gonadal dysgenesis
46,XX testicular disorder of sex development
46,XX testicular DSD
46,XY CGD
46,XY complete gonadal dysgenesis
46,XY disorder of gonadal development
46,XY disorder of sex developement due to partial LH receptor inactivation
46,XY disorder of sex developement due to partial LH resistance
46,XY disorder of sex developement due to partial luteinizing hormone resistance
46,XY disorder of sex development
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
46,XY disorder of sex development due to a cholesterol synthesis defect
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
46,XY disorder of sex development due to a testosterone synthesis defect
46,XY disorder of sex development due to complete LH receptor inactivation
46,XY disorder of sex development due to complete LH resistance
46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
46,XY disorder of sex development due to complete luteinizing hormone resistance
46,XY disorder of sex development due to impaired androgen production
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to LHB deficiency
46,XY disorder of sex development due to LH resistance or LHB deficiency
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
46,XY disorder of sex development due to testicular steroidogenesis defect
46,XY disorder of sex development induced by maternal exposure to endocrine disruptors
46,XY disorder of sex development of endocrine origin
46,XY disorder of sex development of gynecological interest
46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
46,XY DSD
46,XY DSD due to 5-alpha-reductase 2 deficiency
46,XY DSD due to a cholesterol synthesis defect
46,XY DSD due to adrenal and testicular steroidogenesis defect
46,XY DSD due to a testosterone synthesis defect
46,XY DSD due to complete LH receptor inactivation
46,XY DSD due to complete LH resistance
46,XY DSD due to complete luteinizing hormone receptor inactivation
46,XY DSD due to complete luteinizing hormone resistance
46,XY DSD due to impaired androgen production
46,XY DSD due to LHB deficiency
46,XY DSD due to LH resistance or LHB deficiency
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
46,XY DSD due to luteinizing hormone subunit beta deficiency
46,XY DSD due to partial LH receptor inactivation
46,XY DSD due to partial LH resistance
46,XY DSD due to partial luteinizing hormone resistance
46,XY DSD due to testicular steroidogenesis defect
46,XY DSD induced by maternal-exposure to endocrine disruptors
46,XY DSD of endocrine origin
46,XY DSD of gynecological interest
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46,XY ovotesticular disorder of sex development
46,XY ovotesticular DSD
46,XY partial gonadal dysgenesis
46,XY partial testicular dysgenesis
46,XY PGD
46,XY pure gonadal dysgenesis
47,XXX syndrome
47,XYY syndrome
48,XXXX syndrome
48,XXXY syndrome
48,XXYY syndrome
48,XYYY syndrome
49,XXXXX syndrome
49,XXXXY syndrome
49,XXXYY syndrome
49,XYYYY syndrome
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4A syndrome
4-HPPD deficiency
4H syndrome
4-hydroxybutyric aciduria
4-hydroxyphenylpyruvic acid dioxygenase deficiency
4p16.3 microduplication syndrome
4p- syndrome
4q21 microdeletion syndrome
4q25 proximal deletion syndrome
5-amino-4-imidazole carboxamide ribosiduria
5-fluorouracil intoxication
5-fluorouracil poisoning
5-fluorouracil toxicity
5-oxoprolinase deficiency
5p13 microduplication syndrome
5q14.3 microdeletion syndrome
5q23 microdeletion syndrome
5q31.3 microdeletion syndrome
5q35 microduplication syndrome
5q- syndrome
6p22 microdeletion syndrome
6p25 microdeletion syndrome
6-phosphogluconate dehydrogenase deficiency
6p subtelomeric deletion syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
6q16 microdeletion syndrome
6q25 microdeletion syndrome
6q terminal deletion syndrome
7-dehydrocholesterol reductase deficiency
7p22.1 microduplication syndrome
7q11.23 microduplication syndrome
7q31 microdeletion syndrome
7q36.3 microduplication syndrome
8p11.2 deletion syndrome
8p11 myeloproliferative syndrome
8p23.1 duplication syndrome
8p23.1 microdeletion syndrome
8p inverted duplication/deletion syndrome
8q12 microduplication syndrome
8q13 microdeletion syndrome
8q21.11 microdeletion syndrome
8q22.1 microdeletion syndrome
8q24.3 microdeletion syndrome
9p13 microdeletion syndrome
9p deletion syndrome
9p- syndrome
9q21.13 microdeletion syndrome
9q21.3 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
9q33.3q34.11 microdeletion syndrome
9qSTDS
9q subtelomeric deletion syndrome