Rare Disease Library

Fibromuscular dysplasia of the arteries of the extremities

Fibromuscular dysplasia of the arteries of the limbs · Limb fibromuscular dysplasia

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive limb-girdle muscular dystrophy type 2I · LGMD2I

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

Gastric linitis plastica

Borrmann gastric cancer type 4 · Linitis plastica of the stomach

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

GMPPB-related limb-girdle muscular dystrophy R19

LGMD2T · Autosomal recessive limb-girdle muscular dystrophy type 2T

Hepatocellular carcinoma

HCC · Hepatocellular carcinoma

HNRNPDL-related limb-girdle muscular dystrophy D3

LGMD1G · Autosomal dominant limb-girdle muscular dystrophy type 1G

IgG4-related mesenteritis

Isolated mesenteric lipodystrophy · Lipomatous mesenteritis

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

Isolated filum lipoma

Lipoma of the filum terminale

ISPD-related limb-girdle muscular dystrophy R20

LGMD2U · Autosomal recessive limb-girdle muscular dystrophy type 2U

Lethal infantile mitochondrial myopathy

LIMM · LIMD

Locked-in syndrome

Pseudocoma · LIS

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Multicentric reticulohistiocytosis

Lipoid dermatoarthritis · Giant cell histiocytomatosis

Muscular lipidosis

Lipid storage myopathy

Neutral lipid storage disease

Lipidosis with triglyceride storage disease

Nicolau syndrome

Embolia cutis medicamentosa · Livedo-like dermatitis

NMDA receptor encephalitis

Limbic encephalitis with NMDA receptor antibodies · Limbic encephalitis with N-methyl-D-aspartate receptor antibodies

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

Plectin-related limb-girdle muscular dystrophy R17

LGMD2Q · Plectin-related LGMD R17

POGLUT1-related limb-girdle muscular dystrophy R21

LGMD2Z · Autosomal recessive limb-girdle muscular dystrophy type 2Z

POMGNT1-related limb-girdle muscular dystrophy R15

LGMD2O · Autosomal recessive limb-girdle muscular dystrophy type 2O

POMGNT2-related limb-girdle muscular dystrophy R24

POMGNT2-related muscular dystrophy · POMGNT2-related LGMD R24

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

POMT2-related limb-girdle muscular dystrophy R14

LGMD2N · Autosomal recessive limb-girdle muscular dystrophy type 2N

Pressure-induced localized lipoatrophy

Semicircular lipoatrophy · Lipoatrophia semicircularis

Progeroid features-hepatocellular carcinoma predisposition syndrome

HCC · Hepatocellular carcinoma

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

Sialidosis type 1

Cherry-red spot-myoclonus syndrome · Lipomucopolysaccharidosis

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

Titin-related limb-girdle muscular dystrophy R10

Autosomal recessive limb-girdle muscular dystrophy type 2J · LGMD2J

TNP03-related limb-girdle muscular dystrophy D2

LGMD1F · Autosomal dominant limb-girdle muscular dystrophy type 1F

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X

10q22.3q23.3 microduplication syndrome

Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3