MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

2q37 microdeletion syndrome

ORPHA:1001Порок
Autosomal dominant, Not applicable

3-hydroxy-3-methylglutaric aciduria

ORPHA:20Заболевание
Autosomal recessive

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

ORPHA:35701Заболевание
Autosomal recessive

3-hydroxyisobutyric aciduria

ORPHA:939Заболевание

3-methylcrotonyl-CoA carboxylase deficiency

ORPHA:6Заболевание
Autosomal recessive

3-methylglutaconic aciduria type 1

ORPHA:67046Заболевание
Autosomal recessive

3-methylglutaconic aciduria type 3

ORPHA:67047Заболевание
Autosomal recessive

3-methylglutaconic aciduria type 4

ORPHA:67048Заболевание
Autosomal recessive

3-methylglutaconic aciduria type 8

ORPHA:505208Заболевание
Autosomal recessive

3-methylglutaconic aciduria type 9

ORPHA:505216Заболевание
Autosomal recessive

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

ORPHA:445038Заболевание
Autosomal recessive

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

ORPHA:79351Этиол. подт.
Autosomal recessive

3-phosphoserine phosphatase deficiency, infantile/juvenile form

ORPHA:79350Этиол. подт.
Autosomal recessive

3C syndrome

ORPHA:7Порок
Autosomal recessive, X-linked recessive

3M syndrome

ORPHA:2616Порок
Autosomal recessive

3MC syndrome

ORPHA:293843Порок
Autosomal recessive

3p25.3 microdeletion syndrome

ORPHA:435638Порок
Not applicable

3q13 microdeletion syndrome

ORPHA:1621Порок
Not applicable

3q26 microduplication syndrome

ORPHA:96095Порок

3q26q28 deletion syndrome

ORPHA:695611Порок
Autosomal dominant

3q29 microdeletion syndrome

ORPHA:65286Порок
Autosomal dominant

3q29 microduplication syndrome

ORPHA:251038Порок
Autosomal dominant, Not applicable

45,X/46,XY mixed gonadal dysgenesis

ORPHA:1772Порок
Not applicable, Unknown

46,XX difference of sex development-anorectal anomalies syndrome

ORPHA:2973Порок