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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

2q37 microdeletion syndrome

ORPHA:1001Мальф.
Autosomal dominant, Not applicable

3-hydroxy-3-methylglutaric aciduria

ORPHA:20Ауру
Autosomal recessive

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

ORPHA:35701Ауру
Autosomal recessive

3-hydroxyisobutyric aciduria

ORPHA:939Ауру

3-methylcrotonyl-CoA carboxylase deficiency

ORPHA:6Ауру
Autosomal recessive

3-methylglutaconic aciduria type 1

ORPHA:67046Ауру
Autosomal recessive

3-methylglutaconic aciduria type 3

ORPHA:67047Ауру
Autosomal recessive

3-methylglutaconic aciduria type 4

ORPHA:67048Ауру
Autosomal recessive

3-methylglutaconic aciduria type 8

ORPHA:505208Ауру
Autosomal recessive

3-methylglutaconic aciduria type 9

ORPHA:505216Ауру
Autosomal recessive

3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

ORPHA:445038Ауру
Autosomal recessive

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

ORPHA:79351Этио. под.
Autosomal recessive

3-phosphoserine phosphatase deficiency, infantile/juvenile form

ORPHA:79350Этио. под.
Autosomal recessive

3C syndrome

ORPHA:7Мальф.
Autosomal recessive, X-linked recessive

3M syndrome

ORPHA:2616Мальф.
Autosomal recessive

3MC syndrome

ORPHA:293843Мальф.
Autosomal recessive

3p25.3 microdeletion syndrome

ORPHA:435638Мальф.
Not applicable

3q13 microdeletion syndrome

ORPHA:1621Мальф.
Not applicable

3q26 microduplication syndrome

ORPHA:96095Мальф.

3q26q28 deletion syndrome

ORPHA:695611Мальф.
Autosomal dominant

3q29 microdeletion syndrome

ORPHA:65286Мальф.
Autosomal dominant

3q29 microduplication syndrome

ORPHA:251038Мальф.
Autosomal dominant, Not applicable

45,X/46,XY mixed gonadal dysgenesis

ORPHA:1772Мальф.
Not applicable, Unknown

46,XX difference of sex development-anorectal anomalies syndrome

ORPHA:2973Мальф.