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Y-Z
FA
see
Fanconi anemia
;
Friedreich ataxia
FAA
see
familial thoracic aortic aneurysm and dissection
Fabry disease
facial dysmorphism-intellectual deficit-short stature-hearing loss
see
Myhre syndrome
Facial Injuries and Disorders
Facio-digito-genital dysplasia
see
Aarskog-Scott syndrome
Facio-genito-popliteal syndrome
see
popliteal pterygium syndrome
Facio-Scapulo-Humeral Dystrophy
see
facioscapulohumeral muscular dystrophy
facioauriculovertebral dysplasia
see
craniofacial microsomia
faciocutaneoskeletal syndrome
see
Costello syndrome
Faciogenital dysplasia
see
Aarskog-Scott syndrome
faciooculoacousticorenal syndrome
see
Donnai-Barrow syndrome
faciopalatoosseous syndrome
see
otopalatodigital syndrome type 1
;
otopalatodigital syndrome type 2
facioscapulohumeral muscular dystrophy
Facioscapuloperoneal muscular dystrophy
see
facioscapulohumeral muscular dystrophy
Factor II Deficiency
see
prothrombin deficiency
factor V Leiden thrombophilia
FAHN
see
fatty acid hydroxylase-associated neurodegeneration
FALDH deficiency
see
Sjögren-Larsson syndrome
Familial Acoustic Neuromas
see
neurofibromatosis type 2
familial acute myeloid leukemia with mutated CEBPA
familial adenomatous polyposis
familial afibrinogenemia
see
congenital afibrinogenemia
familial Alzheimer disease (FAD)
see
Alzheimer disease
familial amyloid polyneuropathy type IV
see
lattice corneal dystrophy type II
familial amyloidosis, Finnish type
see
lattice corneal dystrophy type II
familial aplasia of the vermis
see
Joubert syndrome
familial apoceruloplasmin deficiency
see
aceruloplasminemia
familial atrial fibrillation
Familial benign giant-cell tumor of the jaw
see
cherubism
familial brachial plexus neuritis
see
hereditary neuralgic amyotrophy
familial cavernous hemangioma
see
cerebral cavernous malformation
familial cavernous malformation
see
cerebral cavernous malformation
familial cerebral cavernous angioma
see
cerebral cavernous malformation
familial cerebral cavernous malformation
see
cerebral cavernous malformation
familial cold autoinflammatory syndrome
familial cylindromatosis
familial cystic parathyroid adenomatosis
see
hyperparathyroidism-jaw tumor syndrome
familial dysautonomia
familial encephalopathy with neuroserpin inclusion bodies
Familial Endocrine Adenomatosis
see
multiple endocrine neoplasia
familial erythrocytosis
familial erythromelalgia
see
erythromelalgia
familial exostoses
see
hereditary multiple exostoses
familial exudative vitreoretinopathy
familial fatal Epstein-Barr infection
see
X-linked lymphoproliferative disease
Familial fibrous dysplasia of jaw
see
cherubism
Familial gout-kidney disease
see
uromodulin-associated kidney disease
Familial gouty nephropathy
see
uromodulin-associated kidney disease
familial granulomatosis, Blau type
see
Blau syndrome
familial HDL deficiency
familial hemiplegic migraine
Familial Hemochromatosis
see
hemochromatosis
familial hemophagocytic lymphohistiocytosis
Familial High Density Lipoprotein Deficiency Disease
see
Tangier disease
familial horizontal gaze palsy with progressive scoliosis
see
horizontal gaze palsy with progressive scoliosis
familial hyperaldosteronism
familial hyperekplexia
see
hereditary hyperekplexia
familial hyperinsulinism
Familial Hyperkalemic Periodic Paralysis
see
hyperkalemic periodic paralysis
familial hyperlysinemia
see
hyperlysinemia
familial hyperpotassemia and hypertension
see
pseudohypoaldosteronism type 2
familial hypertensive hyperkalemia
see
pseudohypoaldosteronism type 2
Familial Hypoalphalipoproteinemia
see
Tangier disease
familial hypobetalipoproteinemia
familial hypokalemia-hypomagnesemia
see
Gitelman syndrome
Familial Hypokalemic Periodic Paralysis
see
hypokalemic periodic paralysis
familial idiopathic basal ganglia calcification
familial idiopathic hyperphosphatasemia
see
juvenile Paget disease
familial idiopathic scoliosis associated with congenital encephalopathy
see
horizontal gaze palsy with progressive scoliosis
Familial incomplete male pseudohermaphroditism, type 2
see
5-alpha reductase deficiency
familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis
see
Aicardi-Goutieres syndrome
familial infantile scoliosis associated with bilateral paralysis of conjugate gaze
see
horizontal gaze palsy with progressive scoliosis
familial isolated hyperparathyroidism
familial isolated vitamin E deficiency
see
ataxia with vitamin E deficiency
Familial juvenile hyperuricemic nephropathy
see
uromodulin-associated kidney disease
Familial juvenile hyperuricemic nephropathy 2
see
REN-related kidney disease
familial juvenile systemic granulomatosis
see
Blau syndrome
familial lipoprotein lipase deficiency
familial male-limited precocious puberty
familial Mediterranean fever
Familial multilocular cystic disease of the jaws
see
cherubism
familial nodular heterotopia
see
periventricular heterotopia
familial nonhemolytic jaundice
see
Gilbert syndrome
familial nonhemolytic unconjugated hyperbilirubinemia
see
Crigler-Najjar syndrome
Familial nonpolyposis colon cancer
see
Lynch syndrome
familial osteochondritis dissecans
familial osteoectasia
see
juvenile Paget disease
familial pancreatitis
see
hereditary pancreatitis
familial paraganglioma-pheochromocytoma syndromes
see
hereditary paraganglioma-pheochromocytoma
familial paroxysmal kinesigenic dyskinesia
familial paroxysmal nonkinesigenic dyskinesia
familial persistent pulmonary hypertension of the newborn
see
alveolar capillary dysplasia with misalignment of pulmonary veins
familial Pick's disease
see
frontotemporal dementia with parkinsonism-17
familial polymorphic ventricular tachycardia
see
catecholaminergic polymorphic ventricular tachycardia
familial porencephaly
familial pressure sensitive neuropathy
see
hereditary neuropathy with liability to pressure palsies
familial primary hyperparathyroidism with multiple ossifying jaw fibromas
see
hyperparathyroidism-jaw tumor syndrome
familial primary pulmonary hypertension
see
pulmonary arterial hypertension
familial progressive scleroderma
see
systemic scleroderma
familial pterygium syndrome
see
multiple pterygium syndrome
familial pyrimidemia
see
dihydropyrimidine dehydrogenase deficiency
familial rectal pain
see
paroxysmal extreme pain disorder
familial restrictive cardiomyopathy
familial thoracic aortic aneurysm and dissection
Familial Thrombotic Thrombocytopenia Purpura
see
thrombotic thrombocytopenic purpura
familial tremor
see
essential tremor
familial Turner syndrome
see
Noonan syndrome
Familial vascular leukoencephalopathy
see
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
familial veno-occlusive disease with immunodeficiency
see
hepatic veno-occlusive disease with immunodeficiency
Familial Xanthomatosis
see
Wolman disease
familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension
see
cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Fanconi anemia
FAP
see
familial adenomatous polyposis
Farber lipogranulomatosis
fatty acid hydroxylase-associated neurodegeneration
fatty aldehyde dehydrogenase deficiency
see
Sjögren-Larsson syndrome
FAV
see
craniofacial microsomia
FCAS
see
familial cold autoinflammatory syndrome
FCMD
see
Fukuyama congenital muscular dystrophy
FCS syndrome
see
Costello syndrome
FCU
see
familial cold autoinflammatory syndrome
FD
see
familial dysautonomia
Feingold syndrome
FEL
see
familial hemophagocytic lymphohistiocytosis
Female Infertility
see
primary ciliary dyskinesia
female pattern baldness
see
androgenetic alopecia
Female Pseudo-Turner Syndrome
see
Noonan syndrome
FENIB
see
familial encephalopathy with neuroserpin inclusion bodies
ferritin-related neurodegeneration
see
neuroferritinopathy
Fetal face syndrome
see
Robinow syndrome
Fetal iritis syndrome
see
Norrie disease
Fever
FEVR
see
familial exudative vitreoretinopathy
FG syndrome
FGFR3-associated coronal synostosis
see
Muenke syndrome
FHA
see
familial HDL deficiency
FHBL
see
familial hypobetalipoproteinemia
FHL
see
familial hemophagocytic lymphohistiocytosis
FHS
see
Floating-Harbor syndrome
FIBGC
see
familial idiopathic basal ganglia calcification
fibrinoid degeneration of astrocytes
see
Alexander disease
fibrocystic disease of pancreas
see
cystic fibrosis
fibrodysplasia ossificans progressiva
fibrofolliculomas with trichodiscomas and acrochordons
see
Birt-Hogg-Dubé syndrome
Fibrous Dysplasia, Polyostotic
see
McCune-Albright syndrome
Fibrous dysplasia with pigmentary skin changes and precocious puberty
see
McCune-Albright syndrome
FIC1 deficiency
see
progressive familial intrahepatic cholestasis
FIGLU-uria
see
glutamate formiminotransferase deficiency
FIHP
see
familial isolated hyperparathyroidism
first and second branchial arch syndrome
see
craniofacial microsomia
first and second pharyngeal arch syndromes
see
craniofacial microsomia
fish malodor syndrome
see
trimethylaminuria
fish odor syndrome
see
trimethylaminuria
Fisher syndrome
see
Guillain-Barré syndrome
FIVE
see
ataxia with vitamin E deficiency
FJHN
see
uromodulin-associated kidney disease
FLHS
see
Floating-Harbor syndrome
Floating-Harbor syndrome
Fluid and Electrolyte Balance
see
pseudohypoaldosteronism type 1
FMF
see
familial Mediterranean fever
FMR1-related primary ovarian insufficiency
see
fragile X-associated primary ovarian insufficiency
FNEPPK
see
focal palmoplantar keratoderma
FOAR syndrome
see
Donnai-Barrow syndrome
focal dermal hypoplasia
focal hand dystonia
see
task-specific focal dystonia
focal palmoplantar keratoderma
focal task-specific dystonia
see
task-specific focal dystonia
fOCD
see
familial osteochondritis dissecans
Folic Acid
see
hereditary folate malabsorption
Folic acid transport defect
see
hereditary folate malabsorption
Folling Disease
see
phenylketonuria
Fong disease
see
nail-patella syndrome
Foot Injuries and Disorders
foramina parietalia permagna
see
enlarged parietal foramina
Forbes disease
see
glycogen storage disease type III
formiminoglutamic aciduria
see
glutamate formiminotransferase deficiency
formiminotransferase deficiency
see
glutamate formiminotransferase deficiency
FPF
see
tumor necrosis factor receptor-associated periodic syndrome
FPO
see
otopalatodigital syndrome type 1
;
otopalatodigital syndrome type 2
FPP
see
enlarged parietal foramina
FPPH
see
pulmonary arterial hypertension
FPPK
see
focal palmoplantar keratoderma
FPVT
see
catecholaminergic polymorphic ventricular tachycardia
fra(X) syndrome
see
fragile X syndrome
fragile X-associated primary ovarian insufficiency
fragile X-associated tremor/ataxia syndrome
fragile X syndrome
Fragilitas ossium
see
osteogenesis imperfecta
Franceschetti-Zwahlen-Klein syndrome
see
Treacher Collins syndrome
FRAXA syndrome
see
fragile X syndrome
FRDA
see
Friedreich ataxia
free sialic acid storage disease
see
sialic acid storage disease
Freeman-Sheldon syndrome
French type sialuria
see
sialuria
Friedreich ataxia
Friedreich ataxia phenotype with selective vitamin E deficiency
see
ataxia with vitamin E deficiency
Friedreich-like ataxia
see
ataxia with vitamin E deficiency
Friedreich's Ataxia
see
Friedreich ataxia
FRMD7-related infantile nystagmus
see
X-linked infantile nystagmus
frontometaphyseal dysplasia
frontotemporal dementia with parkinsonism-17
frontotemporal lobar degeneration
see
GRN-related frontotemporal dementia
fructose-1,6-biphosphate aldolase deficiency
see
hereditary fructose intolerance
fructose-1-phosphate aldolase deficiency
see
hereditary fructose intolerance
fructose aldolase B deficiency
see
hereditary fructose intolerance
fructose intolerance
see
hereditary fructose intolerance
Fructose Metabolism, Inborn Errors
see
hereditary fructose intolerance
fructosemia
see
hereditary fructose intolerance
Fryns syndrome
FSH muscular dystrophy
see
facioscapulohumeral muscular dystrophy
FSHD
see
facioscapulohumeral muscular dystrophy
FSS
see
Freeman-Sheldon syndrome
FTD-3
see
CHMP2B-related frontotemporal dementia
FTD-CHMP2B
see
CHMP2B-related frontotemporal dementia
FTD-GRN
see
GRN-related frontotemporal dementia
FTD-PGRN
see
GRN-related frontotemporal dementia
FTD3
see
CHMP2B-related frontotemporal dementia
FTDP-17
see
frontotemporal dementia with parkinsonism-17
FTDP-17 GRN
see
GRN-related frontotemporal dementia
FTDU-17
see
GRN-related frontotemporal dementia
FTLD
see
GRN-related frontotemporal dementia
FTSD
see
task-specific focal dystonia
Fuchs endothelial dystrophy
Fucosidase deficiency
see
fucosidosis
fucosidosis
Fukuhara Disease
see
myoclonic epilepsy with ragged-red fibers
Fukuyama congenital muscular dystrophy
fumarase deficiency
fumarate hydratase deficiency
see
fumarase deficiency
fumaric aciduria
see
fumarase deficiency
FXPOI
see
fragile X-associated primary ovarian insufficiency
FXS
see
fragile X syndrome
FXTAS
see
fragile X-associated tremor/ataxia syndrome
Published: February 11, 2013