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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Atypical Werner syndrome

ORPHA:79474Disease
Autosomal dominant, Unknown

Atypical chronic myeloid leukemia

ORPHA:98824Disease
Not applicable

Atypical dentin dysplasia due to SMOC2 deficiency

ORPHA:314721Clin. sub.
Autosomal recessive

Atypical glycine encephalopathy

ORPHA:289863Clin. sub.
Unknown

Atypical hemolytic uremic syndrome

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

Atypical hemolytic uremic syndrome with complement gene abnormality

ORPHA:544472Etio. sub.

Atypical hypotonia-cystinuria syndrome

ORPHA:238523Disease
Autosomal recessive

Atypical juvenile parkinsonism

ORPHA:391411Disease
Autosomal recessive, Not applicable

Atypical lichen myxedematosus

ORPHA:86797Disease

Atypical pantothenate kinase-associated neurodegeneration

ORPHA:216873Clin. sub.
Autosomal recessive

Atypical progressive supranuclear palsy syndrome

ORPHA:99750Clin. sub.

Atypical teratoid rhabdoid tumor

ORPHA:99966Disease
Not applicable

Auditory neuropathy-optic atrophy syndrome

ORPHA:542585Disease
Autosomal recessive

Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome

ORPHA:77300Malform.
Unknown

Auriculocondylar syndrome

ORPHA:137888Malform.
Autosomal dominant, Autosomal recessive

Auriculoosteodysplasia

ORPHA:114Malform.
Autosomal dominant

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

ORPHA:98375Clin. grp.
Multigenic/multifactorial

Autoimmune hemolytic anemia, cold type

ORPHA:228312Clin. grp.
Multigenic/multifactorial

Autoimmune hemolytic anemia, warm type

ORPHA:90033Disease
Multigenic/multifactorial