MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Acromesomelic dysplasia, Hunter-Thompson type

ORPHA:968Malform.
Autosomal recessive

Acromesomelic dysplasia, Maroteaux type

ORPHA:40Malform.
Autosomal recessive

Acromicric dysplasia

ORPHA:969Malform.
Autosomal dominant

Acroosteolysis-keloid-like lesions-premature aging syndrome

ORPHA:363665Disease
Autosomal dominant

Acrootoocular syndrome

ORPHA:2980Malform.
Autosomal recessive

Acropectoral syndrome

ORPHA:85203Malform.
Autosomal dominant

Acropectorovertebral dysplasia

ORPHA:957Malform.
Autosomal dominant

Acrorenal syndrome

ORPHA:971Malform.
Autosomal recessive

Actinic lichen planus

ORPHA:254395Disease

Actinic prurigo

ORPHA:330061Disease
Multigenic/multifactorial, Not applicable

Actinomycosis

ORPHA:457095Disease
Not applicable

Actinomyopathy-associated syndromic thrombocytopenia

ORPHA:674653Disease
Autosomal dominant

Action myoclonus-renal failure syndrome

ORPHA:163696Disease
Autosomal recessive

Activated PI3K-delta syndrome

ORPHA:397596Clin. grp.
Autosomal dominant

Activated PI3K-delta syndrome 1

ORPHA:693661Disease
Autosomal dominant

Activated PI3K-delta syndrome 2

ORPHA:693681Disease
Autosomal dominant

Acute ackee fruit intoxication

ORPHA:73423Disease
Not applicable

Acute adrenal insufficiency

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

Acute annular outer retinopathy

ORPHA:284460Disease
Not applicable

Acute basophilic leukemia

ORPHA:86849Disease

Acute bilirubin encephalopathy

ORPHA:529799Clinical syndrome

Acute disseminated encephalomyelitis

ORPHA:83597Disease
Not applicable

Acute encephalopathy with biphasic seizures and late reduced diffusion

ORPHA:363549Disease

Acute encephalopathy with inflammation-mediated status epilepticus

ORPHA:363567Clin. grp.