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

Atrophic lichen planus

ORPHA:254449Заболевание

Atrophic papulosis

ORPHA:656071Заболевание

Atrophoderma of Pasini and Pierini

ORPHA:658810Заболевание

Atrophoderma vermiculata

ORPHA:79100Заболевание
Autosomal recessive, Unknown

Attenuated Chédiak-Higashi syndrome

ORPHA:352723Заболевание
Autosomal recessive

Attenuated familial adenomatous polyposis

ORPHA:220460Заболевание
Autosomal dominant, Autosomal recessive

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

ORPHA:544628Заболевание
Autosomal dominant

Atypical Rett syndrome

ORPHA:3095Заболевание
Autosomal dominant, X-linked dominant

Atypical Werner syndrome

ORPHA:79474Заболевание
Autosomal dominant, Unknown

Atypical chronic myeloid leukemia

ORPHA:98824Заболевание
Not applicable

Atypical hemolytic uremic syndrome

ORPHA:2134Заболевание
Autosomal dominant, Autosomal recessive, Not applicable

Atypical hypotonia-cystinuria syndrome

ORPHA:238523Заболевание
Autosomal recessive

Atypical juvenile parkinsonism

ORPHA:391411Заболевание
Autosomal recessive, Not applicable

Atypical lichen myxedematosus

ORPHA:86797Заболевание

Atypical teratoid rhabdoid tumor

ORPHA:99966Заболевание
Not applicable

Auditory neuropathy-optic atrophy syndrome

ORPHA:542585Заболевание
Autosomal recessive

Autism spectrum disorder due to AUTS2 deficiency

ORPHA:352490Заболевание
Autosomal dominant

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

ORPHA:370943Заболевание
Autosomal recessive

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

ORPHA:308410Заболевание
Autosomal recessive

Autoerythrocyte sensitization syndrome

ORPHA:324636Заболевание

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

ORPHA:420789Заболевание
Not applicable

Autoimmune hemolytic anemia, warm type

ORPHA:90033Заболевание
Multigenic/multifactorial

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

ORPHA:444463Заболевание
Autosomal recessive

Autoimmune hepatitis

ORPHA:2137Заболевание
Not applicable