MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

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 1

ORPHA:693661Disease
Autosomal dominant

Activated PI3K-delta syndrome 2

ORPHA:693681Disease
Autosomal dominant

Acute ackee fruit intoxication

ORPHA:73423Disease
Not applicable

Acute annular outer retinopathy

ORPHA:284460Disease
Not applicable

Acute basophilic leukemia

ORPHA:86849Disease

Acute disseminated encephalomyelitis

ORPHA:83597Disease
Not applicable

Acute encephalopathy with biphasic seizures and late reduced diffusion

ORPHA:363549Disease

Acute erythroid leukemia

ORPHA:318Disease
Not applicable

Acute fatty liver of pregnancy

ORPHA:243367Disease
Multigenic/multifactorial

Acute flaccid myelitis

ORPHA:623801Disease

Acute generalized exanthematous pustulosis

ORPHA:293173Disease
Multigenic/multifactorial, Not applicable

Acute idiopathic maculopathy

ORPHA:714101Disease
Not applicable

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

ORPHA:217371Disease
Autosomal recessive

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

ORPHA:466794Disease
Autosomal recessive

Acute infantile liver failure-multisystemic involvement syndrome

ORPHA:370088Disease
Autosomal recessive

Acute inflammatory demyelinating polyradiculoneuropathy

ORPHA:98916Disease
Multigenic/multifactorial, Not applicable

Acute intermittent porphyria

ORPHA:79276Disease
Autosomal dominant

Acute interstitial pneumonia

ORPHA:79126Disease
Unknown

Acute macular neuroretinopathy

ORPHA:488239Disease