Rare Disease Library

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

Focal palmoplantar keratoderma with joint keratoses

Focal stiff limb syndrome

Focal stiff-person syndrome · Stiff leg syndrome

Focal, segmental or multifocal dystonia

Foix-Chavany-Marie syndrome

Bilateral anterior opercular syndrome · Facio-pharyngo-glosso-masticatory diplegia

Folinic acid-responsive seizures

Follicular cholangitis and pancreatitis

Follicular pancreatocholangitis

Follicular dendritic cell sarcoma

Follicular lymphoma

FL · Follicular lymphoma

Folliculotropic mycosis fungoides

Mycosis fungoides-associated follicular mucinosis

Fontaine progeroid syndrome

Fontan-associated liver disease

FALD

Foodborne botulism

Intoxication botulism

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Fountain syndrome

Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome

Fourth branchial cleft anomaly

Fourth branchial cleft cyst · Fourth branchial cleft fistula

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

FHONDA syndrome

Foveal hypoplasia-presenile cataract syndrome

O'Donnell-Pappas syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Fowler vasculopathy

Cerebral proliferative glomeruloid vasculopathy · Encephaloclastic proliferative vasculopathy

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

FOXG1 syndrome due to intragenic alteration

FOXP1 Syndrome

FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome

Fragile X-associated primary ovarian insufficiency

FXPOI · Fragile X-associated POI

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Fraser-like syndrome

Frasier syndrome

FRAXE intellectual disability

Intellectual disability associated with fragile site FRAXE

FRAXF syndrome

Free sialic acid storage disease

Free sialic acid storage disorder · FSASD

Free sialic acid storage disease, infantile form

ISSD

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Fried syndrome

Fried's tooth and nail syndrome

Friedreich ataxia

FA · FRDA

Frontal encephalocele

Anterior encephalocele

Frontal fibrosing alopecia

FFA

Frontofacionasal dysplasia

Gollop syndrome

Frontometaphyseal dysplasia

Frontonasal dysplasia

Median cleft face syndrome

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia