MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

2q37 microdeletion syndrome

ORPHA:1001Malf.
Autosomal dominant, Not applicable

3-hydroxy-3-methylglutaric aciduria

ORPHA:20Kr.
Autosomal recessive

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

ORPHA:35701Kr.
Autosomal recessive

3-hydroxyisobutyric aciduria

ORPHA:939Kr.

3-methylcrotonyl-CoA carboxylase deficiency

ORPHA:6Kr.
Autosomal recessive

3-methylglutaconic aciduria type 1

ORPHA:67046Kr.
Autosomal recessive

3-methylglutaconic aciduria type 3

ORPHA:67047Kr.
Autosomal recessive

3-methylglutaconic aciduria type 4

ORPHA:67048Kr.
Autosomal recessive

3-methylglutaconic aciduria type 8

ORPHA:505208Kr.
Autosomal recessive

3-methylglutaconic aciduria type 9

ORPHA:505216Kr.
Autosomal recessive

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

ORPHA:445038Kr.
Autosomal recessive

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

ORPHA:79351Ätl. subt.
Autosomal recessive

3-phosphoserine phosphatase deficiency, infantile/juvenile form

ORPHA:79350Ätl. subt.
Autosomal recessive

3C syndrome

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

3M syndrome

ORPHA:2616Malf.
Autosomal recessive

3MC syndrome

ORPHA:293843Malf.
Autosomal recessive

3p25.3 microdeletion syndrome

ORPHA:435638Malf.
Not applicable

3q13 microdeletion syndrome

ORPHA:1621Malf.
Not applicable

3q26 microduplication syndrome

ORPHA:96095Malf.

3q26q28 deletion syndrome

ORPHA:695611Malf.
Autosomal dominant

3q29 microdeletion syndrome

ORPHA:65286Malf.
Autosomal dominant

3q29 microduplication syndrome

ORPHA:251038Malf.
Autosomal dominant, Not applicable

45,X/46,XY mixed gonadal dysgenesis

ORPHA:1772Malf.
Not applicable, Unknown

46,XX difference of sex development-anorectal anomalies syndrome

ORPHA:2973Malf.