MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Acromesomelic dysplasia, Hunter-Thompson type

ORPHA:968Malf.
Autosomal recessive

Acromesomelic dysplasia, Maroteaux type

ORPHA:40Malf.
Autosomal recessive

Acromicric dysplasia

ORPHA:969Malf.
Autosomal dominant

Acroosteolysis-keloid-like lesions-premature aging syndrome

ORPHA:363665Kr.
Autosomal dominant

Acrootoocular syndrome

ORPHA:2980Malf.
Autosomal recessive

Acropectoral syndrome

ORPHA:85203Malf.
Autosomal dominant

Acropectorovertebral dysplasia

ORPHA:957Malf.
Autosomal dominant

Acrorenal syndrome

ORPHA:971Malf.
Autosomal recessive

Actinic lichen planus

ORPHA:254395Kr.

Actinic prurigo

ORPHA:330061Kr.
Multigenic/multifactorial, Not applicable

Actinomycosis

ORPHA:457095Kr.
Not applicable

Actinomyopathy-associated syndromic thrombocytopenia

ORPHA:674653Kr.
Autosomal dominant

Action myoclonus-renal failure syndrome

ORPHA:163696Kr.
Autosomal recessive

Activated PI3K-delta syndrome

ORPHA:397596Kl. gruppe
Autosomal dominant

Activated PI3K-delta syndrome 1

ORPHA:693661Kr.
Autosomal dominant

Activated PI3K-delta syndrome 2

ORPHA:693681Kr.
Autosomal dominant

Acute ackee fruit intoxication

ORPHA:73423Kr.
Not applicable

Acute adrenal insufficiency

ORPHA:95409Clinical syndrome
Autosomal recessive, Not applicable, X-linked dominant

Acute annular outer retinopathy

ORPHA:284460Kr.
Not applicable

Acute basophilic leukemia

ORPHA:86849Kr.

Acute bilirubin encephalopathy

ORPHA:529799Clinical syndrome

Acute disseminated encephalomyelitis

ORPHA:83597Kr.
Not applicable

Acute encephalopathy with biphasic seizures and late reduced diffusion

ORPHA:363549Kr.

Acute encephalopathy with inflammation-mediated status epilepticus

ORPHA:363567Kl. gruppe