MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Atypical Werner syndrome

ORPHA:79474Kr.
Autosomal dominant, Unknown

Atypical chronic myeloid leukemia

ORPHA:98824Kr.
Not applicable

Atypical dentin dysplasia due to SMOC2 deficiency

ORPHA:314721Kl. subt.
Autosomal recessive

Atypical glycine encephalopathy

ORPHA:289863Kl. subt.
Unknown

Atypical hemolytic uremic syndrome

ORPHA:2134Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Atypical hemolytic uremic syndrome with complement gene abnormality

ORPHA:544472Ätl. subt.

Atypical hypotonia-cystinuria syndrome

ORPHA:238523Kr.
Autosomal recessive

Atypical juvenile parkinsonism

ORPHA:391411Kr.
Autosomal recessive, Not applicable

Atypical lichen myxedematosus

ORPHA:86797Kr.

Atypical pantothenate kinase-associated neurodegeneration

ORPHA:216873Kl. subt.
Autosomal recessive

Atypical progressive supranuclear palsy syndrome

ORPHA:99750Kl. subt.

Atypical teratoid rhabdoid tumor

ORPHA:99966Kr.
Not applicable

Auditory neuropathy-optic atrophy syndrome

ORPHA:542585Kr.
Autosomal recessive

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

ORPHA:77300Malf.
Unknown

Auriculocondylar syndrome

ORPHA:137888Malf.
Autosomal dominant, Autosomal recessive

Auriculoosteodysplasia

ORPHA:114Malf.
Autosomal dominant

Autism spectrum disorder due to AUTS2 deficiency

ORPHA:352490Kr.
Autosomal dominant

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

ORPHA:370943Kr.
Autosomal recessive

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

ORPHA:308410Kr.
Autosomal recessive

Autoerythrocyte sensitization syndrome

ORPHA:324636Kr.

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

ORPHA:420789Kr.
Not applicable

Autoimmune hemolytic anemia

ORPHA:98375Kl. gruppe
Multigenic/multifactorial

Autoimmune hemolytic anemia, cold type

ORPHA:228312Kl. gruppe
Multigenic/multifactorial

Autoimmune hemolytic anemia, warm type

ORPHA:90033Kr.
Multigenic/multifactorial