MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Atrophic lichen planus

ORPHA:254449Kr.

Atrophic papulosis

ORPHA:656071Kr.

Atrophoderma of Pasini and Pierini

ORPHA:658810Kr.

Atrophoderma vermiculata

ORPHA:79100Kr.
Autosomal recessive, Unknown

Attenuated Chédiak-Higashi syndrome

ORPHA:352723Kr.
Autosomal recessive

Attenuated familial adenomatous polyposis

ORPHA:220460Kr.
Autosomal dominant, Autosomal recessive

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

ORPHA:544628Kr.
Autosomal dominant

Atypical Rett syndrome

ORPHA:3095Kr.
Autosomal dominant, X-linked dominant

Atypical Werner syndrome

ORPHA:79474Kr.
Autosomal dominant, Unknown

Atypical chronic myeloid leukemia

ORPHA:98824Kr.
Not applicable

Atypical hemolytic uremic syndrome

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

Atypical hypotonia-cystinuria syndrome

ORPHA:238523Kr.
Autosomal recessive

Atypical juvenile parkinsonism

ORPHA:391411Kr.
Autosomal recessive, Not applicable

Atypical lichen myxedematosus

ORPHA:86797Kr.

Atypical teratoid rhabdoid tumor

ORPHA:99966Kr.
Not applicable

Auditory neuropathy-optic atrophy syndrome

ORPHA:542585Kr.
Autosomal recessive

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, warm type

ORPHA:90033Kr.
Multigenic/multifactorial

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

ORPHA:444463Kr.
Autosomal recessive

Autoimmune hepatitis

ORPHA:2137Kr.
Not applicable