Rare Disease Library

Combined oxidative phosphorylation defect type 27

COXPD27

Combined oxidative phosphorylation defect type 29

COXPD29

Combined oxidative phosphorylation defect type 30

COXPD30

Combined oxidative phosphorylation defect type 39

GFM2-related combined oxidative phosphorylation defect · COXPD39

Combined oxidative phosphorylation defect type 4

COXPD4

Combined oxidative phosphorylation defect type 7

Severe C12ORF65-related combined oxidative phosphorylation defect · Severe C12ORF65-related COXPD

Combined oxidative phosphorylation defect type 8

COXPD8

Combined oxidative phosphorylation defect type 9

COXPD9

Combined pancreatic lipase-colipase deficiency

Combined pituitary hormone deficiencies, genetic forms

Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms

Combined pulmonary fibrosis-emphysema syndrome

CPFE

Combined T and B cell immunodeficiency

Commissural lip fistula

Common arterial trunk

CAT · Truncus arteriosus

Common arterial trunk with aortic dominance

Common arterial trunk with pulmonary dominance and interrupted aortic arch

Common cystic lymphatic malformation

Common hereditary elliptocytosis

Common variable immunodeficiency and related disorders

CVID and related disorders

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

CVID phenotype due to CD19/CD81 deficiency · CD19 deficiency

Common variable immunodeficiency phenotype due to CD21 deficiency

Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency · CVID phenotype due to CD21 deficiency

Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations

CVID phenotype due to germinal digenic/polygenic mutations

Common variable immunodeficiency phenotype due to germinal monogenic mutation

Monogenic CVID phenotype · Monogenic common variable immunodeficiency phenotype

Common variable immunodeficiency phenotype due to homozygous TACI deficiency

CVID phenotype due to homozygous TACI deficiency · Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency

Common variable immunodeficiency phenotype due to IRF2BP2 deficiency

CVID phenotype due to IRF2BP2 deficiency · Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency

Common variable immunodeficiency phenotype due to SEC61A1 deficiency

CVID due to SEC61A1 deficiency · Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency

Common variable immunodeficiency phenotype due to somatic mutations

CVID phenotype due to somatic mutations

Common variable immunodeficiency phenotype due to TWEAK deficiency

CVID phenotype due to TWEAK deficiency · Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis

Common variable immunodeficiency without known genetic defect

CVID without known genetic defect

Communicating congenital bronchopulmonary-foregut malformation

Complement component 3 deficiency

C3 deficiency

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Complete androgen insensitivity syndrome

CAIS · Complete androgen resistance syndrome

Complete atrioventricular septal defect

CAVC · Complete atrioventricular canal defect

Complete atrioventricular septal defect with ventricular hypoplasia

CAVC with ventricular hypoplasia · Complete atrioventricular canal defect with ventricular hypoplasia

Complete atrioventricular septal defect-tetralogy of Fallot

CAVC-tetralogy of Fallot · Complete atrioventricular canal defect-tetralogy of Fallot

Complete cryptophthalmia

Complete hydatidiform mole

Complete molar pregnancy

Complete septate uterus

Total septate uterus

Complex chromosomal rearrangement syndrome

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

Complex lethal osteochondrodysplasia

Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type

Complex regional pain syndrome

Complex regional pain syndrome type 1

Algodystrophy · Reflex sympathetic dystrophy

Complex regional pain syndrome type 2

Causalgia

Complex vascular malformation with associated anomalies

Hemangiolymphangioma

Complication after organ transplantation