MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

ORPHA:363540Kr.
Autosomal recessive

Leukoencephalopathy-dystonia-motor neuropathy syndrome

ORPHA:163684Kr.
Autosomal recessive

Leukoencephalopathy-palmoplantar keratoderma syndrome

ORPHA:2386Kr.
Autosomal recessive

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

ORPHA:83629Kr.
X-linked recessive

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

ORPHA:314051Kr.
No data available

Leukonychia totalis

ORPHA:2387Kr.
Autosomal dominant, Autosomal recessive

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

ORPHA:210133Kr.
Autosomal dominant

Leydig cell hypoplasia

ORPHA:755Kr.

Li-Fraumeni syndrome

ORPHA:524Kr.
Autosomal dominant

Lichen amyloidosis

ORPHA:49804Kr.

Lichen planopilaris

ORPHA:525Kr.
Not applicable

Lichen planus pemphigoides

ORPHA:254478Kr.

Lichen planus pigmentosus

ORPHA:254463Kr.

Lichtenstein syndrome

ORPHA:2390Kr.
Autosomal recessive

Liddle syndrome

ORPHA:526Kr.
Autosomal dominant

Limb-girdle muscular dystrophy due to POMK deficiency

ORPHA:445110Kr.
Autosomal recessive

Limbal stem cell deficiency

ORPHA:171673Kr.
Not applicable

Linear IgA dermatosis

ORPHA:46488Kr.
Not applicable

Linear and whorled nevoid hypermelanosis

ORPHA:79150Kr.

Linear atrophoderma of Moulin

ORPHA:140933Kr.

Linear focal elastosis

ORPHA:228236Kr.
Not applicable

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

ORPHA:589608Kr.
Not applicable

Linear lichen planus

ORPHA:254379Kr.

Linear nevus sebaceus syndrome

ORPHA:2612Kr.
Not applicable