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

Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

ORPHA:2269Disease
Autosomal recessive

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

ORPHA:2274Disease
Autosomal recessive, X-linked recessive

Ichthyosis-hypotrichosis syndrome

ORPHA:91132Disease
Autosomal recessive

Ichthyosis-prematurity syndrome

ORPHA:88621Disease
Autosomal recessive

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

ORPHA:363992Disease
Autosomal recessive

Idiopathic achalasia

ORPHA:930Disease
Autosomal recessive, Not applicable

Idiopathic acute eosinophilic pneumonia

ORPHA:724Disease
Unknown

Idiopathic aplastic anemia

ORPHA:88Disease
Unknown

Idiopathic bronchiectasis

ORPHA:60033Disease
Not applicable

Idiopathic catatonia

ORPHA:648919Disease

Idiopathic chronic eosinophilic pneumonia

ORPHA:2902Disease
Not applicable

Idiopathic chronic pancreatitis

ORPHA:700133Disease
Not applicable

Idiopathic congenital hypothyroidism

ORPHA:95717Disease

Idiopathic copper-associated cirrhosis

ORPHA:209919Disease
Unknown

Idiopathic ductopenia

ORPHA:480512Disease

Idiopathic eosinophilic myositis

ORPHA:247724Disease
Not applicable

Idiopathic gastroparesis

ORPHA:558411Disease

Idiopathic giant cell myocarditis

ORPHA:329874Disease

Idiopathic hypercalciuria

ORPHA:2197Disease
Autosomal dominant

Idiopathic hypereosinophilic syndrome

ORPHA:3260Disease
Not applicable

Idiopathic hypersomnia

ORPHA:33208Disease
Unknown

Idiopathic intracranial hypertension

ORPHA:238624Disease
Not applicable

Idiopathic linear interstitial keratitis

ORPHA:314017Disease
Unknown

Idiopathic localized lipodystrophy

ORPHA:90158Disease