MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Combined oxidative phosphorylation defect type 8

ORPHA:319504Kr.
Autosomal recessive

Combined oxidative phosphorylation defect type 9

ORPHA:319509Kr.
Autosomal recessive

Combined pancreatic lipase-colipase deficiency

ORPHA:309111Kr.

Combined pituitary hormone deficiencies, genetic forms

ORPHA:95494Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Combined pulmonary fibrosis-emphysema syndrome

ORPHA:300564Kr.
Not applicable

Common arterial trunk

ORPHA:3384Morph.
Not applicable

Common arterial trunk with aortic dominance

ORPHA:665044Kl. subt.

Common arterial trunk with pulmonary dominance and interrupted aortic arch

ORPHA:665058Kl. subt.

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

ORPHA:696881Kr.
Autosomal recessive

Common variable immunodeficiency phenotype due to CD21 deficiency

ORPHA:696894Kr.
Autosomal recessive

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

ORPHA:317473Kr.
Autosomal dominant

Common variable immunodeficiency phenotype due to IRF2BP2 deficiency

ORPHA:696904Kr.
Autosomal dominant

Common variable immunodeficiency phenotype due to SEC61A1 deficiency

ORPHA:697417Kr.
Autosomal dominant

Common variable immunodeficiency phenotype due to TWEAK deficiency

ORPHA:696931Kr.
Autosomal dominant

Common variable immunodeficiency phenotype due to homozygous TACI deficiency

ORPHA:696907Kr.
Autosomal recessive

Complement component 3 deficiency

ORPHA:280133Kr.
Autosomal recessive

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

ORPHA:566175Kr.
Autosomal recessive

Complete androgen insensitivity syndrome

ORPHA:99429Kr.
X-linked recessive

Complete atrioventricular septal defect

ORPHA:1329Morph.
Not applicable

Complete atrioventricular septal defect with ventricular hypoplasia

ORPHA:99067Kl. subt.
Autosomal dominant

Complete atrioventricular septal defect without ventricular hypoplasia

ORPHA:576227Kl. subt.

Complete atrioventricular septal defect-tetralogy of Fallot

ORPHA:99068Kl. subt.
Autosomal dominant, Not applicable

Complete congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714079Kl. subt.

Complete cryptophthalmia

ORPHA:98949Kl. subt.