Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

200 matching diseasesClear search ×

Li-Fraumeni syndrome

ORPHA:524

Lichen amyloidosis

Amyloid lichen · Lichen amyloidosus

ORPHA:49804

Lichen myxedematosus

ORPHA:402007

Lichen planopilaris

Follicular lichen planus · LPP

ORPHA:525

Lichen planus pemphigoides

LP pemphigoides

ORPHA:254478

Lichen planus pigmentosus

LP pigmentosa · LP pigmentosus

ORPHA:254463

Lichtenstein syndrome

ORPHA:2390

Liddle syndrome

Pseudoaldosteronism

ORPHA:526

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

ORPHA:99812

Light and heavy chain deposition disease

LHCDD

ORPHA:93557

Light chain deposition disease

LCDD

ORPHA:93558

Ligneous conjunctivitis

Conjunctivitis lignosa

ORPHA:97231

Limb body wall complex

LBWC syndrome · Body stalk anomaly

ORPHA:2369

Limb-girdle muscular dystrophy

LGMD

ORPHA:263

Limb-girdle muscular dystrophy due to POMK deficiency

LGMD due to POMK deficiency

ORPHA:445110

Limb-mammary syndrome

LMS

ORPHA:69085

Limbal stem cell deficiency

ORPHA:171673

Limited cutaneous systemic sclerosis

Limited cutaneous systemic scleroderma · Progressive systemic sclerosis

ORPHA:220402

Limited dorsal myeloschisis

LDM

ORPHA:645196

Limited systemic sclerosis

Progressive systemic sclerosis · Scleroderma

ORPHA:220407

Linear and whorled nevoid hypermelanosis

LWNH

ORPHA:79150

Linear atrophoderma of Moulin

ORPHA:140933

Linear focal elastosis

Linear focal dermal elastosis · Elastotic striae

ORPHA:228236

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

RHOA-related mosaic ectodermal dysplasia

ORPHA:589608

Linear IgA dermatosis

ORPHA:46488

Linear lichen planus

Blaschkoid LP · Blaschkoid lichen planus

ORPHA:254379

Linear nevus sebaceus syndrome

Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome

ORPHA:2612

Linear verrucous nevus syndrome

Linear hamartoma syndrome

ORPHA:2611

LIPE-related familial partial lipodystrophy

FPLD6 · LIPE-related FPLD

ORPHA:435660

Lipid storage disease

ORPHA:79204

Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy

ORPHA:156156

Lipoblastoma

ORPHA:247762

Lipodystrophy due to peptidic growth factors deficiency

Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency · Hoepffner-Dreyer-Reimers syndrome

ORPHA:1979

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

ORPHA:686999

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

ORPHA:50811

Lipoic acid biosynthesis defect

Lipoate biosynthesis defect

ORPHA:401854

Lipoic acid synthetase deficiency

ORPHA:401859

Lipoid proteinosis

Hyalinosis cutis et mucosae · Urbach-Wiethe disease

ORPHA:530

Lipomatous non-saccular limited dorsal myeloschisis

Lipomatous flat LDM · Lipomatous non-saccular LDM

ORPHA:645300

Lipomyelomeningocele

ORPHA:268835

Lipoprotein glomerulopathy

LPG

ORPHA:329481

Liposarcoma

ORPHA:69078

Lipoyl transferase 1 deficiency

ORPHA:401862

Lipoyl transferase 2 deficiency

ORPHA:447795

Lisch epithelial corneal dystrophy

Band-shaped and whorled microcystic dystrophy of the corneal epithelium · LECD

ORPHA:98955

Lissencephaly

ORPHA:48471

Lissencephaly due to LIS1 mutation

PAFAH1B1-related lissencephaly

ORPHA:95232

Lissencephaly due to TUBA1A mutation

ORPHA:171680