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

Frontotemporal dementia

FTD

ORPHA:282

Frontotemporal dementia with motor neuron disease

FTD-ALS · FTD-MND

ORPHA:275872

Frontotemporal dementia, right temporal atrophy variant

RTLA · rvFTD

ORPHA:293848

Frontotemporal neurodegeneration with movement disorder

ORPHA:306708

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

ORPHA:348

Fryns syndrome

Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome

ORPHA:2059

Fryns-Smeets-Thiry syndrome

ORPHA:2058

FTH1-related iron overload

FTH1-associated iron overload

ORPHA:247790

Fuchs endothelial corneal dystrophy

Endoepithelial corneal dystrophy · FECD

ORPHA:98974

Fuchs heterochromic iridocyclitis

FHI

ORPHA:263479

Fucosidosis

Alpha-L-fucosidase deficiency

ORPHA:349

Fuhrmann syndrome

Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome

ORPHA:2854

Fukuda-Miyanomae-Nakata syndrome

ORPHA:2060

Fukutin-related limb-girdle muscular dystrophy R13

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

ORPHA:206554

Full NF2-related schwannomatosis

Nonmosaic neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis

ORPHA:637

Full schwannomatosis

Full NF3 · Full neurofibromatosis type 3

ORPHA:93921

Fulminant viral hepatitis

ORPHA:35063

Fumaric aciduria

Fumarase deficiency

ORPHA:24

Functional variant of Guillain-Barré syndrome

Functional variant of GBS

ORPHA:231419

Functioning gonadotropic adenoma

Functioning pituitary gonadotropic adenoma · Gonadotroph adenoma

ORPHA:91348

Functioning neuroendocrine tumor of pancreas

Functioning pancreatic neuroendocrine tumor · Functioning well-differentiated neuroendocrine neoplasm of pancreas

ORPHA:506060

Functioning pituitary adenoma

Endocrine active pituitary adenoma · Secreting pituitary adenoma

ORPHA:314753

Fundus albipunctatus

ORPHA:227796

Fundus pulverulentus

ORPHA:99004

Fungal keratitis

Keratomycosis · Mycotic keratitis

ORPHA:519930

Fungal myositis

ORPHA:207000

Furlong syndrome

Marfanoid habitus-craniosynostosis syndrome

ORPHA:97295

Furuncular myiasis

Furunculoid myiasis · Furunculous myiasis

ORPHA:591

Furuncular myiasis due to Cordylobia anthropophaga

Furunculous myiasis due to Cordylobia anthropophaga · Furunculoid myiasis due to Cordylobia anthropophaga

ORPHA:563687

Furuncular myiasis due to Cordylobia rodhaini

Furunculoid myiasis due to Cordylobia rodhaini · Furunculous myiasis due to Cordylobia rodhaini

ORPHA:563690

Furuncular myiasis due to Dermatobia hominis

Furunculoid myiasis due to Dermatobia hominis · Furunculous myiasis due to Dermatobia hominis

ORPHA:563684

Fusariosis

Fusarium infection

ORPHA:228119

Fused mandibular incisors

ORPHA:2287

Gabriele-de Vries syndrome

YY1 haploinsufficiency syndrome

ORPHA:506358

Gaisböck syndrome

Stress erythrocytosis · Stress polycythemia

ORPHA:90041

Galactokinase deficiency

GALK deficiency · GALK-D

ORPHA:79237

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

ORPHA:79238

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

ORPHA:351

Gallbladder neuroendocrine tumor

ORPHA:100086

Galloway-Mowat syndrome

Galloway syndrome · Microcephaly-hiatus hernia-nephrotic syndrome

ORPHA:2065

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

ORPHA:2066

Gamma-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

ORPHA:33573

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

ORPHA:100026

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

ORPHA:353

Gangliocytoma

ORPHA:251937

Ganglioglioma

ORPHA:251949

Ganglioneuroma

ORPHA:251992

Gangliosidosis

ORPHA:309144