MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

X-linked calvarial hyperostosis

ORPHA:391327Заболевание
X-linked recessive

X-linked central congenital hypothyroidism with late-onset testicular enlargement

ORPHA:329235Заболевание
X-linked recessive

X-linked centronuclear myopathy

ORPHA:596Заболевание
X-linked recessive

X-linked cerebral-cerebellar-coloboma syndrome

ORPHA:163961Заболевание
X-linked recessive

X-linked combined immunodeficiency due to SASH3 deficiency

ORPHA:653751Заболевание
X-linked recessive

X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

ORPHA:696945Заболевание
X-linked recessive

X-linked cone dysfunction syndrome with myopia

ORPHA:90001Заболевание
X-linked recessive

X-linked corneal dermoid

ORPHA:1661Заболевание
X-linked recessive

X-linked creatine transporter deficiency

ORPHA:52503Заболевание
Not applicable, X-linked recessive

X-linked distal spinal muscular atrophy type 3

ORPHA:139557Заболевание
X-linked recessive

X-linked dominant chondrodysplasia punctata

ORPHA:35173Заболевание
X-linked dominant

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

ORPHA:163966Заболевание
X-linked dominant

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

ORPHA:363727Заболевание
X-linked recessive

X-linked dystonia-parkinsonism

ORPHA:53351Заболевание
Not applicable, X-linked recessive

X-linked endothelial corneal dystrophy

ORPHA:293621Заболевание
X-linked recessive

X-linked epilepsy-learning disabilities-behavior disorders syndrome

ORPHA:85294Заболевание
X-linked recessive

X-linked erythropoietic protoporphyria

ORPHA:443197Заболевание
X-linked dominant

X-linked hereditary sensory and autonomic neuropathy with deafness

ORPHA:139583Заболевание
X-linked recessive

X-linked hypophosphatemia

ORPHA:89936Заболевание
X-linked dominant

X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency

ORPHA:676125Заболевание
X-linked recessive

X-linked immunoneurologic disorder

ORPHA:2571Заболевание
X-linked dominant

X-linked intellectual disability due to GRIA3 mutations

ORPHA:364028Заболевание
X-linked recessive

X-linked intellectual disability, Cilliers type

ORPHA:163971Заболевание
X-linked recessive

X-linked intellectual disability, Hedera type

ORPHA:93952Заболевание
X-linked recessive