MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Atypical Werner syndrome

ORPHA:79474Ауру
Autosomal dominant, Unknown

Atypical chronic myeloid leukemia

ORPHA:98824Ауру
Not applicable

Atypical dentin dysplasia due to SMOC2 deficiency

ORPHA:314721Клин. под.
Autosomal recessive

Atypical glycine encephalopathy

ORPHA:289863Клин. под.
Unknown

Atypical hemolytic uremic syndrome

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

Atypical hemolytic uremic syndrome with complement gene abnormality

ORPHA:544472Этио. под.

Atypical hypotonia-cystinuria syndrome

ORPHA:238523Ауру
Autosomal recessive

Atypical juvenile parkinsonism

ORPHA:391411Ауру
Autosomal recessive, Not applicable

Atypical lichen myxedematosus

ORPHA:86797Ауру

Atypical pantothenate kinase-associated neurodegeneration

ORPHA:216873Клин. под.
Autosomal recessive

Atypical progressive supranuclear palsy syndrome

ORPHA:99750Клин. под.

Atypical teratoid rhabdoid tumor

ORPHA:99966Ауру
Not applicable

Auditory neuropathy-optic atrophy syndrome

ORPHA:542585Ауру
Autosomal recessive

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

ORPHA:77300Мальф.
Unknown

Auriculocondylar syndrome

ORPHA:137888Мальф.
Autosomal dominant, Autosomal recessive

Auriculoosteodysplasia

ORPHA:114Мальф.
Autosomal dominant

Autism spectrum disorder due to AUTS2 deficiency

ORPHA:352490Ауру
Autosomal dominant

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

ORPHA:370943Ауру
Autosomal recessive

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

ORPHA:308410Ауру
Autosomal recessive

Autoerythrocyte sensitization syndrome

ORPHA:324636Ауру

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

ORPHA:420789Ауру
Not applicable

Autoimmune hemolytic anemia

ORPHA:98375Клин. топ
Multigenic/multifactorial

Autoimmune hemolytic anemia, cold type

ORPHA:228312Клин. топ
Multigenic/multifactorial

Autoimmune hemolytic anemia, warm type

ORPHA:90033Ауру
Multigenic/multifactorial