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"

53 matching diseasesClear search ×

Epidermolysis bullosa simplex with muscular dystrophy

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

ORPHA:257

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 generalized epidermolysis bullosa simplex, intermediate form

Epidermolysis bullosa simplex, Koebner type · Epidermolysis bullosa simplex, Köbner type

ORPHA:79399

Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Epidermolysis bullosa simplex, Dowling-Meara type · Autosomal dominant generalized EBS, severe form

ORPHA:79396

Autosomal dominant limb-girdle muscular dystrophy

ORPHA:102014

Autosomal recessive limb-girdle muscular dystrophy

ORPHA:102015

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

ORPHA:119

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

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

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

ORPHA:268

Dystrophic epidermolysis bullosa

DEB · Dermolytic epidermolysis bullosa

ORPHA:303

Dystrophic epidermolysis bullosa pruriginosa

DEB pruriginosa · DEB-Pr

ORPHA:89843

Epidermolysis bullosa simplex

EBS

ORPHA:304

Epidermolysis bullosa simplex due to BP230 deficiency

DST-related epidermolysis bullosa simplex · EBS due to BP230 deficiency

ORPHA:412181

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

ORPHA:2325

Epidermolysis bullosa simplex with circinate migratory erythema

EBS with circinate migratory erythema · EBS-migr

ORPHA:158681

Epidermolysis bullosa simplex with extracutaneous involvement

EBS with extracutaneous involvement

ORPHA:595351

Epidermolysis bullosa simplex with mottled pigmentation

EBS-MP · EBS with mottled pigmentation

ORPHA:79397

Epidermolysis bullosa simplex with pyloric atresia

EBS with pyloric atresia · EBS-PA

ORPHA:158684

Epidermolysis bullosa simplex without extracutaneous involvement

EBS without extracutaneous involvement

ORPHA:595346

FKRP-related limb-girdle muscular dystrophy R9

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

ORPHA:34515

Fukutin-related limb-girdle muscular dystrophy R13

LGMD2M · Autosomal recessive limb-girdle muscular dystrophy type 2M

ORPHA:206554

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

ORPHA:353

GMPPB-related limb-girdle muscular dystrophy R19

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

ORPHA:363623

HNRNPDL-related limb-girdle muscular dystrophy D3

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

ORPHA:55596

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

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

ORPHA:52430

Intermediate epidermolysis bullosa simplex with cardiomyopathy

Intermediate EBS with cardiomyopathy

ORPHA:508529

ISPD-related limb-girdle muscular dystrophy R20

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

ORPHA:352479

Limb-girdle muscular dystrophy

LGMD

ORPHA:263

Limb-girdle muscular dystrophy due to POMK deficiency

LGMD due to POMK deficiency

ORPHA:445110

Localized dystrophic epidermolysis bullosa

Localized DEB

ORPHA:595356

Localized epidermolysis bullosa simplex

EBS-loc · Epidermolysis bullosa simplex of palms and soles

ORPHA:79400

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome

ORPHA:300333

OBSOLETE: Basal epidermolysis bullosa simplex

ORPHA:158665

OBSOLETE: Suprabasal epidermolysis bullosa simplex

ORPHA:158661

Plectin-related limb-girdle muscular dystrophy R17

LGMD2Q · Plectin-related LGMD R17

ORPHA:254361

POGLUT1-related limb-girdle muscular dystrophy R21

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

ORPHA:480682

POMGNT1-related limb-girdle muscular dystrophy R15

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

ORPHA:206564

POMGNT2-related limb-girdle muscular dystrophy R24

POMGNT2-related muscular dystrophy · POMGNT2-related LGMD R24

ORPHA:565899

POMT1-related limb-girdle muscular dystrophy R11

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

ORPHA:86812

POMT2-related limb-girdle muscular dystrophy R14

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

ORPHA:206559

Self-improving dystrophic epidermolysis bullosa

Self-improving DEB · Transient bullous dermolysis of the newborn

ORPHA:79411

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

ORPHA:34514