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"

128 matching diseasesClear search ×

Follicular lymphoma

FL · Follicular lymphoma

ORPHA:545

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

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Distomatosis

Distomiasis · Fluke infection

ORPHA:1685

Familial LCAT deficiency

Complete LCAT deficiency · FLD

ORPHA:79293

Familial mesial temporal lobe epilepsy

FLTLE

ORPHA:163717

Fetal lung interstitial tumor

FLIT · Immature interstitial mesenchymal tumor

ORPHA:284362

Hyperkeratosis lenticularis perstans

Flegel disease

ORPHA:409

Murine typhus

Endemic typhus · Flea-borne typhus

ORPHA:83315

Muscle filaminopathy

FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy

ORPHA:171445

Myotonia fluctuans

Exercise-induced delayed-onset myotonia · Fluctuating myotonia

ORPHA:99734

Non-saccular limited dorsal myeloschisis

Non-saccular LDM · Flat LDM

ORPHA:645343

5-fluorouracil poisoning

5-fluorouracil intoxication

ORPHA:217064

Acute and subacute inflammatory demyelinating polyneuropathy

Acute and subacute inflammatory demyelinating polyradiculoneuropathy

ORPHA:207038

Acute encephalopathy with inflammation-mediated status epilepticus

ORPHA:363567

Acute flaccid myelitis

ORPHA:623801

Acute inflammatory demyelinating polyradiculoneuropathy

AIDP · Acute idiopathic demyelinating polyneuropathy

ORPHA:98916

ALPI-related inflammatory bowel disease

ORPHA:597887

Amniotic fluid embolism

ORPHA:617304

Anonychia with flexural pigmentation

ORPHA:69125

Atkin-Flaitz syndrome

X-linked intellectual disability, Atkin type

ORPHA:1193

Autoimmune/inflammatory optic neuropathy

ORPHA:499047

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

APLAID

ORPHA:324530

Autoinflammatory syndrome

ORPHA:93665

Autoinflammatory syndrome of childhood

ORPHA:319719

Autoinflammatory syndrome with acne and/or hidradenitis suppurativa

ORPHA:653434

Autoinflammatory syndrome with immune deficiency

ORPHA:290839

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

ORPHA:329173

Autoinflammatory syndrome with skin involvement

ORPHA:290842

Autosomal dominant neovascular inflammatory vitreoretinopathy

ADNIV

ORPHA:329211

Avian influenza

ORPHA:454836

Baroreflex failure

ORPHA:443084

Brain inflammatory disease

ORPHA:102005

Butterfly-shaped pigment dystrophy

Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy

ORPHA:99001

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

ORPHA:566067

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome

ORPHA:504476

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome · CAPOS syndrome

ORPHA:1171

Chronic inflammatory demyelinating polyneuropathy

CIDP · Chronic inflammatory demyelinating polyradiculoneuropathy

ORPHA:2932

Chronic relapsing inflammatory optic neuritis

CRION

ORPHA:499085

Congenital genu flexum

ORPHA:295232

Congenital primary megaureter, nonrefluxing and unobstructed form

ORPHA:238654