MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Atypical Werner syndrome

ORPHA:79474Заболевание
Autosomal dominant, Unknown

Atypical chronic myeloid leukemia

ORPHA:98824Заболевание
Not applicable

Atypical dentin dysplasia due to SMOC2 deficiency

ORPHA:314721Клин. подтип
Autosomal recessive

Atypical glycine encephalopathy

ORPHA:289863Клин. подтип
Unknown

Atypical hemolytic uremic syndrome

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

Atypical hemolytic uremic syndrome with complement gene abnormality

ORPHA:544472Этиол. подтип

Atypical hypotonia-cystinuria syndrome

ORPHA:238523Заболевание
Autosomal recessive

Atypical juvenile parkinsonism

ORPHA:391411Заболевание
Autosomal recessive, Not applicable

Atypical lichen myxedematosus

ORPHA:86797Заболевание

Atypical pantothenate kinase-associated neurodegeneration

ORPHA:216873Клин. подтип
Autosomal recessive

Atypical progressive supranuclear palsy syndrome

ORPHA:99750Клин. подтип

Atypical teratoid rhabdoid tumor

ORPHA:99966Заболевание
Not applicable

Auditory neuropathy-optic atrophy syndrome

ORPHA:542585Заболевание
Autosomal recessive

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

ORPHA:77300Мальформация
Unknown

Auriculocondylar syndrome

ORPHA:137888Мальформация
Autosomal dominant, Autosomal recessive

Auriculoosteodysplasia

ORPHA:114Мальформация
Autosomal dominant

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

ORPHA:98375Клин. группа
Multigenic/multifactorial

Autoimmune hemolytic anemia, cold type

ORPHA:228312Клин. группа
Multigenic/multifactorial

Autoimmune hemolytic anemia, warm type

ORPHA:90033Заболевание
Multigenic/multifactorial