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 ×

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

ORPHA:89844

Lissencephaly type 1 due to doublecortin gene mutation

X-linked lissencephaly type 1

ORPHA:2148

Lissencephaly type 3

ORPHA:102011

Lissencephaly type 3-familial fetal akinesia sequence syndrome

ORPHA:86821

Lissencephaly type 3-metacarpal bone dysplasia syndrome

ORPHA:86822

Lissencephaly with cerebellar hypoplasia

LCH

ORPHA:86823

Lissencephaly with cerebellar hypoplasia type A

ORPHA:100011

Lissencephaly with cerebellar hypoplasia type B

ORPHA:100012

Lissencephaly with cerebellar hypoplasia type C

ORPHA:100013

Lissencephaly with cerebellar hypoplasia type D

ORPHA:100014

Lissencephaly with cerebellar hypoplasia type E

ORPHA:100015

Lissencephaly with cerebellar hypoplasia type F

ORPHA:100016

Listeriosis

Listeria infection

ORPHA:533

Littoral cell hemangioma of the spleen

Littoral cell angioma · LCA

ORPHA:673538

Livedoid vasculopathy

Livedo reticularis with summer ulcerations · Segmental hyalinizing vasculitis

ORPHA:542643

Liver adenomatosis

Hepatic adenomatosis

ORPHA:566841

Lamellar ichthyosis

LI

ORPHA:313

Actinic lichen planus

Actinic LP · Lichen planus actinus

ORPHA:254395

Adiposis dolorosa

Adiposalgia · Adipose tissue rheumatism

ORPHA:36397

Adult hepatocellular carcinoma

Adult HCC · HCC

ORPHA:210159

AL amyloidosis

Light-chain amyloidosis

ORPHA:85443

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

LGMD2P · Autosomal recessive limb-girdle muscular dystrophy type 2P

ORPHA:280333

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

ORPHA:62

Anoctamin-5-related limb-girdle muscular dystrophy R12

Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD2L

ORPHA:206549

Autosomal dominant limb-girdle muscular dystrophy type 1A

LGMD1A · Limb-girdle muscular dystrophy due to myotilin deficiency

ORPHA:266

Autosomal dominant limb-girdle muscular dystrophy type 1B

LGMD1B · Limb-girdle muscular dystrophy due to lamin A/C deficiency

ORPHA:264

Autosomal dominant limb-girdle muscular dystrophy type 1C

LGMD1C · Limb-girdle muscular dystrophy due to caveolin-3 deficiency

ORPHA:265

Autosomal recessive limb-girdle muscular dystrophy, type 28

LGMDR28 · Limb-girdle, type 28R

ORPHA:653725

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

ORPHA:101003

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

ORPHA:119

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

ORPHA:1275

BVES-related limb-girdle muscular dystrophy

LGMD2X · Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome

ORPHA:476084

Calpain-3-related limb-girdle muscular dystrophy D4

LGMD1I · Limb-girdle muscular dystrophy type D4

ORPHA:565909

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

ORPHA:267

Centrifugal lipodystrophy

Lipodystrophia centrifugalis abdominalis infantilis

ORPHA:90156

Classic lissencephaly

Lissencephaly type 1

ORPHA:102009

Cobblestone lissencephaly

Lissencephaly type 2

ORPHA:51577

Cobblestone lissencephaly without muscular or ocular involvement

Cobblestone lissencephaly without muscular or eye involvement · Lissencephaly type 2 without muscular or eye involvement

ORPHA:352682

Combined hepatocellular carcinoma and cholangiocarcinoma

cHCC-CC · Combined HCC-CC

ORPHA:529852

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

ORPHA:79095

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

ORPHA:90790

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Lissencephaly type 2 with muscular and ocular involvement · MDDGA

ORPHA:352687

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

ORPHA:219

DNAJB6-related limb-girdle muscular dystrophy D1

LGMD1D · Autosomal dominant limb-girdle muscular dystrophy type 1D

ORPHA:34516

Drug-induced localized lipodystrophy

Lipoatrophy caused by injected drug

ORPHA:90157

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

ORPHA:268

Epidermolysis bullosa simplex with muscular dystrophy

EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

ORPHA:257

Fibrolamellar hepatocellular carcinoma

FHCC · Fibrolamellar hepatocarcinoma

ORPHA:401920