MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Combined oxidative phosphorylation defect type 8

ORPHA:319504Заболевание
Autosomal recessive

Combined oxidative phosphorylation defect type 9

ORPHA:319509Заболевание
Autosomal recessive

Combined pancreatic lipase-colipase deficiency

ORPHA:309111Заболевание

Combined pituitary hormone deficiencies, genetic forms

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

Combined pulmonary fibrosis-emphysema syndrome

ORPHA:300564Заболевание
Not applicable

Common arterial trunk

ORPHA:3384Морф. аномалия
Not applicable

Common arterial trunk with aortic dominance

ORPHA:665044Клин. подтип

Common arterial trunk with pulmonary dominance and interrupted aortic arch

ORPHA:665058Клин. подтип

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

ORPHA:696881Заболевание
Autosomal recessive

Common variable immunodeficiency phenotype due to CD21 deficiency

ORPHA:696894Заболевание
Autosomal recessive

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

ORPHA:317473Заболевание
Autosomal dominant

Common variable immunodeficiency phenotype due to IRF2BP2 deficiency

ORPHA:696904Заболевание
Autosomal dominant

Common variable immunodeficiency phenotype due to SEC61A1 deficiency

ORPHA:697417Заболевание
Autosomal dominant

Common variable immunodeficiency phenotype due to TWEAK deficiency

ORPHA:696931Заболевание
Autosomal dominant

Common variable immunodeficiency phenotype due to homozygous TACI deficiency

ORPHA:696907Заболевание
Autosomal recessive

Complement component 3 deficiency

ORPHA:280133Заболевание
Autosomal recessive

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

ORPHA:566175Заболевание
Autosomal recessive

Complete androgen insensitivity syndrome

ORPHA:99429Заболевание
X-linked recessive

Complete atrioventricular septal defect

ORPHA:1329Морф. аномалия
Not applicable

Complete atrioventricular septal defect with ventricular hypoplasia

ORPHA:99067Клин. подтип
Autosomal dominant

Complete atrioventricular septal defect without ventricular hypoplasia

ORPHA:576227Клин. подтип

Complete atrioventricular septal defect-tetralogy of Fallot

ORPHA:99068Клин. подтип
Autosomal dominant, Not applicable

Complete congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714079Клин. подтип

Complete cryptophthalmia

ORPHA:98949Клин. подтип