MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Combined oxidative phosphorylation defect type 8

ORPHA:319504Disease
Autosomal recessive

Combined oxidative phosphorylation defect type 9

ORPHA:319509Disease
Autosomal recessive

Combined pancreatic lipase-colipase deficiency

ORPHA:309111Disease

Combined pituitary hormone deficiencies, genetic forms

ORPHA:95494Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Combined pulmonary fibrosis-emphysema syndrome

ORPHA:300564Disease
Not applicable

Common arterial trunk

ORPHA:3384Morph.
Not applicable

Common arterial trunk with aortic dominance

ORPHA:665044Clin. sub.

Common arterial trunk with pulmonary dominance and interrupted aortic arch

ORPHA:665058Clin. sub.

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

ORPHA:696881Disease
Autosomal recessive

Common variable immunodeficiency phenotype due to CD21 deficiency

ORPHA:696894Disease
Autosomal recessive

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

ORPHA:317473Disease
Autosomal dominant

Common variable immunodeficiency phenotype due to IRF2BP2 deficiency

ORPHA:696904Disease
Autosomal dominant

Common variable immunodeficiency phenotype due to SEC61A1 deficiency

ORPHA:697417Disease
Autosomal dominant

Common variable immunodeficiency phenotype due to TWEAK deficiency

ORPHA:696931Disease
Autosomal dominant

Common variable immunodeficiency phenotype due to homozygous TACI deficiency

ORPHA:696907Disease
Autosomal recessive

Complement component 3 deficiency

ORPHA:280133Disease
Autosomal recessive

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

ORPHA:566175Disease
Autosomal recessive

Complete androgen insensitivity syndrome

ORPHA:99429Disease
X-linked recessive

Complete atrioventricular septal defect

ORPHA:1329Morph.
Not applicable

Complete atrioventricular septal defect with ventricular hypoplasia

ORPHA:99067Clin. sub.
Autosomal dominant

Complete atrioventricular septal defect without ventricular hypoplasia

ORPHA:576227Clin. sub.

Complete atrioventricular septal defect-tetralogy of Fallot

ORPHA:99068Clin. sub.
Autosomal dominant, Not applicable

Complete congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714079Clin. sub.

Complete cryptophthalmia

ORPHA:98949Clin. sub.