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"

10,911 rare diseases

Thymic-renal-anal-lung dysplasia

ORPHA:3326

Thymoma

ORPHA:99867

Thymoma type A

ORPHA:263310

Thymoma type AB

ORPHA:263324

Thymoma type B

ORPHA:263317

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

ORPHA:169105

Thyrocerebrorenal syndrome

Cutler-Bass-Romshe syndrome

ORPHA:3327

Thyroid ectopia

ORPHA:95712

Thyroid hemiagenesis

ORPHA:95719

Thyroid hypoplasia

ORPHA:95720

Thyroid lymphoma

ORPHA:97285

Thyrotoxic periodic paralysis

Thyrotoxic hypokalemic periodic paralysis

ORPHA:79102

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Absent tibia-polydactyly syndrome · Werner mesomelic spectrum

ORPHA:988

Tibial muscular dystrophy

Distal myopathy, Udd type · Distal titinopathy

ORPHA:609

Tick-borne encephalitis

TBE

ORPHA:297

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

ORPHA:42665

Timothy syndrome

LQT8 · Long QT syndrome type 8

ORPHA:65283

Timothy syndrome type 1

TS1 · LQT8 type 1

ORPHA:595098

Timothy syndrome type 2

TS2 · LQT8 type 2

ORPHA:595105

Titin-related limb-girdle muscular dystrophy R10

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

ORPHA:140922

TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome

Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome · INFLTR8

ORPHA:675628

TMEM165-CDG

Carbohydrate deficient glycoprotein syndrome type IIk · Congenital disorder of glycosylation type 2k

ORPHA:314667

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

ORPHA:466703

TMEM70-related mitochondrial encephalo-cardio-myopathy

Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency

ORPHA:1194

TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

ORPHA:562569

TNP03-related limb-girdle muscular dystrophy D2

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

ORPHA:55595

Tolosa-Hunt syndrome

Painful ophthalmoplegia

ORPHA:64686

Toluene embryopathy

ORPHA:1920

TomÚ-Brunet-Fardeau syndrome

ORPHA:3336

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y

ORPHA:424261

Torg-Winchester syndrome

ORPHA:3460

Toriello-Carey syndrome

Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome

ORPHA:3338

Torpedo Maculopathy

Solitary hypopigmented nevus of the retinal pigment epithelium · TM

ORPHA:674935

Torsade-de-pointes syndrome with short coupling interval

ORPHA:51084

Torticollis-keloids-cryptorchidism-renal dysplasia syndrome

ORPHA:3341

Total autosomal monosomy syndrome

ORPHA:98141

Total autosomal trisomy syndrome

ORPHA:98131

Total early-onset cataract

ORPHA:98994

Toxic epidermal necrolysis

Lyell syndrome

ORPHA:537

Toxic maculopathy due to antimalarial drugs

ORPHA:279894

Toxic oil syndrome

ORPHA:227972

Toxic or drug-related embryofetopathy

ORPHA:251529

Toxin-mediated infectious botulism

Toxin-mediated infective botulism

ORPHA:230800

Toxocariasis

ORPHA:3343

Tracheal agenesis

Tracheal atresia

ORPHA:3346

Tracheal anomaly

ORPHA:156252

Tracheobronchopathia osteochondroplastica

Tracheopathia osteoplastica

ORPHA:3348