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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Atrophic lichen planus

ORPHA:254449Disease

Atrophic papulosis

ORPHA:656071Disease

Atrophoderma of Pasini and Pierini

ORPHA:658810Disease

Atrophoderma vermiculata

ORPHA:79100Disease
Autosomal recessive, Unknown

Attenuated Chédiak-Higashi syndrome

ORPHA:352723Disease
Autosomal recessive

Attenuated familial adenomatous polyposis

ORPHA:220460Disease
Autosomal dominant, Autosomal recessive

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

ORPHA:544628Disease
Autosomal dominant

Atypical Rett syndrome

ORPHA:3095Disease
Autosomal dominant, X-linked dominant

Atypical Werner syndrome

ORPHA:79474Disease
Autosomal dominant, Unknown

Atypical chronic myeloid leukemia

ORPHA:98824Disease
Not applicable

Atypical hemolytic uremic syndrome

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

Atypical hypotonia-cystinuria syndrome

ORPHA:238523Disease
Autosomal recessive

Atypical juvenile parkinsonism

ORPHA:391411Disease
Autosomal recessive, Not applicable

Atypical lichen myxedematosus

ORPHA:86797Disease

Atypical teratoid rhabdoid tumor

ORPHA:99966Disease
Not applicable

Auditory neuropathy-optic atrophy syndrome

ORPHA:542585Disease
Autosomal recessive

Autism spectrum disorder due to AUTS2 deficiency

ORPHA:352490Disease
Autosomal dominant

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

ORPHA:370943Disease
Autosomal recessive

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

ORPHA:308410Disease
Autosomal recessive

Autoerythrocyte sensitization syndrome

ORPHA:324636Disease

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

ORPHA:420789Disease
Not applicable

Autoimmune hemolytic anemia, warm type

ORPHA:90033Disease
Multigenic/multifactorial

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

ORPHA:444463Disease
Autosomal recessive

Autoimmune hepatitis

ORPHA:2137Disease
Not applicable