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

Inherited epidermodysplasia verruciformis

ORPHA:302Kr.
Autosomal recessive

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

ORPHA:289548Kr.
Autosomal recessive

Inherited isolated arrhythmogenic cardiomyopathy

ORPHA:217656Kr.
Autosomal dominant

Insulin autoimmune syndrome

ORPHA:411593Kr.
Not applicable

Insulin-resistance syndrome type A

ORPHA:2297Kr.
Autosomal dominant, Autosomal recessive

Insulin-resistance syndrome type B

ORPHA:2298Kr.
Not applicable

Insulinoma

ORPHA:97279Kr.
Not applicable

Intellectual disability-alacrima-achalasia syndrome

ORPHA:289483Kr.
X-linked recessive

Intellectual disability-cupped ears syndrome

ORPHA:656135Kr.
Autosomal dominant

Intellectual disability-epilepsy-extrapyramidal syndrome

ORPHA:468620Kr.
Autosomal recessive

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

ORPHA:369847Kr.
Autosomal recessive

Intellectual disability-myopathy-short stature-endocrine defect syndrome

ORPHA:3068Kr.

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

ORPHA:352530Kr.
Autosomal recessive

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

ORPHA:397973Kr.
Autosomal recessive

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

ORPHA:513456Kr.
Autosomal dominant

Intellectual disability-seizures-macrocephaly-obesity syndrome

ORPHA:369950Kr.
Not applicable, Unknown

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

ORPHA:662829Kr.
Autosomal dominant

Intellectual disability-strabismus syndrome

ORPHA:363528Kr.
Autosomal recessive

Interdigitating dendritic cell sarcoma

ORPHA:86900Kr.

Intermediate DEND syndrome

ORPHA:99989Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Intermediate collagen VI-related muscular dystrophy

ORPHA:646113Kr.
Autosomal dominant, Autosomal recessive

Intermediate epidermolysis bullosa simplex with cardiomyopathy

ORPHA:508529Kr.
Autosomal dominant

Intermediate generalized junctional epidermolysis bullosa

ORPHA:79402Kr.
Autosomal recessive

Intermediate nemaline myopathy

ORPHA:171433Kr.
Autosomal dominant, Autosomal recessive