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"

10,912 rare diseases

Fibrohistiocytic inflammatory pseudotumor of the liver

ORPHA:555434

Fibrolamellar hepatocellular carcinoma

FHCC · Fibrolamellar hepatocarcinoma

ORPHA:401920

Fibrolipomatous filum anomaly

ORPHA:645279

Fibromuscular dysplasia

FMD

ORPHA:698012

Fibromuscular dysplasia of the arteries of the extremities

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

ORPHA:698069

Fibromuscular dysplasia of the cervical and intracranial arteries

Cerebrovascular fibromuscular dysplasia · Cerebrovascular FMD

ORPHA:698036

Fibromuscular dysplasia of the coronary arteries

Epicardial coronary artery fibromuscular dysplasia

ORPHA:698059

Fibromuscular dysplasia of the renal arteries

Renal artery fibromuscular dysplasia · Renal FMD

ORPHA:698043

Fibromuscular dysplasia of the visceral arteries

Visceral fibromuscular dysplasia

ORPHA:698063

Fibronectin glomerulopathy

GFND · Glomerulopathy with fibronectin deposits

ORPHA:84090

Fibroneural non-saccular limited dorsal myeloschisis

Fibroneural flat limited dorsal myeloschisis · Fibroneural flat LDM

ORPHA:645310

Fibrosarcoma

ORPHA:2030

Fibrosis-neurodegeneration-cerebral angiomatosis syndrome

FINCA · Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome

ORPHA:621758

Fibrotic hypersensitivity pneumonitis

ORPHA:686465

Fibrous dysplasia of bone

ORPHA:249

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

ORPHA:595216

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

ORPHA:2639

Fibular aplasia-ectrodactyly syndrome

ORPHA:1118

Fibular dimelia-diplopodia syndrome

Leg duplication-mirror foot syndrome

ORPHA:1757

Fibulo-ulnar hypoplasia-renal anomalies syndrome

Saito-Kuba-Tsuruta syndrome

ORPHA:2256

Filamin-related bone disorder

Bone filaminopathy

ORPHA:93425

Filariasis

ORPHA:2034

Filippi syndrome

Type 1 syndactyly-microcephaly-intellectual disability syndrome

ORPHA:3255

Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome

ORPHA:369979

Fingerprint body myopathy

ORPHA:97232

First branchial cleft anomaly

First branchial cleft cyst · First branchial cleft fistula

ORPHA:141013

Fish-eye disease

FED · Partial LCAT deficiency

ORPHA:79292

Fixed drug eruption

ORPHA:293812

Fixed subaortic stenosis

ORPHA:3092

FKRP-related limb-girdle muscular dystrophy R9

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

ORPHA:34515

Flat face-microstomia-ear anomaly syndrome

Blepharophimosis-telecanthus-microstomia syndrome · Simosa-Penchaszadeh-Bustos syndrome

ORPHA:1968

Fleck corneal dystrophy

FCD · François-Neetens speckled corneal dystrophy

ORPHA:98970

FLNA-related X-linked myxomatous valvular dysplasia

Filamin A-related X-linked myxomatous valvular dysplasia · FLNA-related valvular dystrophy

ORPHA:555877

FLNC-related handgrip and calf weakness-distal myopathy

Distal ABD-filaminopathy

ORPHA:63273

Floating-Harbor syndrome

ORPHA:2044

Florid cemento-osseous dysplasia

Florid osseous dysplasia · Focal cemento-osseous dysplasia

ORPHA:83451

FLOTCH syndrome

Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome

ORPHA:2045

Flynn-Aird syndrome

ORPHA:2047

Focal acral hyperkeratosis

Punctate palmoplantar hyperkeratosis type 3 without elastoidosis · Punctate palmoplantar keratoderma type 3 without elastoidosis

ORPHA:308013

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

ORPHA:2092

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

ORPHA:352587

Focal facial dermal dysplasia

FFDD

ORPHA:398166

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

ORPHA:79133

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

ORPHA:398173

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

ORPHA:1807

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

ORPHA:398189

Focal myositis

Focal nodular myositis · Inflammatory pseudotumor of skeletal muscle

ORPHA:48918

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

ORPHA:2200