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

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

ORPHA:363540Disease
Autosomal recessive

Leukoencephalopathy-dystonia-motor neuropathy syndrome

ORPHA:163684Disease
Autosomal recessive

Leukoencephalopathy-palmoplantar keratoderma syndrome

ORPHA:2386Disease
Autosomal recessive

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

ORPHA:83629Disease
X-linked recessive

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

ORPHA:314051Disease
No data available

Leukonychia totalis

ORPHA:2387Disease
Autosomal dominant, Autosomal recessive

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

ORPHA:210133Disease
Autosomal dominant

Leydig cell hypoplasia

ORPHA:755Disease

Li-Fraumeni syndrome

ORPHA:524Disease
Autosomal dominant

Lichen amyloidosis

ORPHA:49804Disease

Lichen planopilaris

ORPHA:525Disease
Not applicable

Lichen planus pemphigoides

ORPHA:254478Disease

Lichen planus pigmentosus

ORPHA:254463Disease

Lichtenstein syndrome

ORPHA:2390Disease
Autosomal recessive

Liddle syndrome

ORPHA:526Disease
Autosomal dominant

Limb-girdle muscular dystrophy due to POMK deficiency

ORPHA:445110Disease
Autosomal recessive

Limbal stem cell deficiency

ORPHA:171673Disease
Not applicable

Linear IgA dermatosis

ORPHA:46488Disease
Not applicable

Linear and whorled nevoid hypermelanosis

ORPHA:79150Disease

Linear atrophoderma of Moulin

ORPHA:140933Disease

Linear focal elastosis

ORPHA:228236Disease
Not applicable

Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

ORPHA:589608Disease
Not applicable

Linear lichen planus

ORPHA:254379Disease

Linear nevus sebaceus syndrome

ORPHA:2612Disease
Not applicable