MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

2q37 microdeletion syndrome

ORPHA:1001Malform.
Autosomal dominant, Not applicable

3-hydroxy-3-methylglutaric aciduria

ORPHA:20Disease
Autosomal recessive

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

ORPHA:35701Disease
Autosomal recessive

3-hydroxyisobutyric aciduria

ORPHA:939Disease

3-methylcrotonyl-CoA carboxylase deficiency

ORPHA:6Disease
Autosomal recessive

3-methylglutaconic aciduria type 1

ORPHA:67046Disease
Autosomal recessive

3-methylglutaconic aciduria type 3

ORPHA:67047Disease
Autosomal recessive

3-methylglutaconic aciduria type 4

ORPHA:67048Disease
Autosomal recessive

3-methylglutaconic aciduria type 8

ORPHA:505208Disease
Autosomal recessive

3-methylglutaconic aciduria type 9

ORPHA:505216Disease
Autosomal recessive

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

ORPHA:445038Disease
Autosomal recessive

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

ORPHA:79351Etio. sub.
Autosomal recessive

3-phosphoserine phosphatase deficiency, infantile/juvenile form

ORPHA:79350Etio. sub.
Autosomal recessive

3C syndrome

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

3M syndrome

ORPHA:2616Malform.
Autosomal recessive

3MC syndrome

ORPHA:293843Malform.
Autosomal recessive

3p25.3 microdeletion syndrome

ORPHA:435638Malform.
Not applicable

3q13 microdeletion syndrome

ORPHA:1621Malform.
Not applicable

3q26 microduplication syndrome

ORPHA:96095Malform.

3q26q28 deletion syndrome

ORPHA:695611Malform.
Autosomal dominant

3q29 microdeletion syndrome

ORPHA:65286Malform.
Autosomal dominant

3q29 microduplication syndrome

ORPHA:251038Malform.
Autosomal dominant, Not applicable

45,X/46,XY mixed gonadal dysgenesis

ORPHA:1772Malform.
Not applicable, Unknown

46,XX difference of sex development-anorectal anomalies syndrome

ORPHA:2973Malform.