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FA see Friedreich ataxia
Fabry disease
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
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
Familial Acoustic Neuromas see neurofibromatosis type 2
familial adenomatous polyposis
familial Alzheimer disease (FAD) see Alzheimer disease
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 dysautonomia
familial encephalopathy with neuroserpin inclusion bodies
Familial Endocrine Adenomatosis see multiple endocrine neoplasia
Familial Exostoses see hereditary multiple exostoses
familial exudative vitreoretinopathy
Familial fibrous dysplasia of jaw see cherubism
familial hemiplegic migraine
Familial Hemochromatosis see hemochromatosis
Familial High Density Lipoprotein Deficiency Disease see Tangier disease
familial horizontal gaze palsy with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
Familial Hyperkalemic Periodic Paralysis see hyperkalemic periodic paralysis
familial hyperlysinemia see hyperlysinemia
Familial Hypoalphalipoproteinemia see Tangier disease
Familial hypobetalipoproteinemia see abetalipoproteinemia
Familial Hypokalemic Periodic Paralysis see hypokalemic periodic paralysis
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 scoliosis associated with bilateral paralysis of conjugate gaze see horizontal gaze palsy with progressive scoliosis
familial isolated vitamin E deficiency see ataxia with vitamin E deficiency
familial lipoprotein lipase deficiency
familial Mediterranean fever
Familial multilocular cystic disease of the jaws see cherubism
familial nodular heterotopia see periventricular heterotopia
Familial nonpolyposis colon cancer see Lynch syndrome
familial paroxysmal nonkinesigenic dyskinesia
familial pressure sensitive neuropathy see hereditary neuropathy with liability to pressure palsies
familial primary pulmonary hypertension see pulmonary arterial hypertension
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
FAP see familial adenomatous polyposis
Farber lipogranulomatosis
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
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
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
FIGLU-uria see glutamate formiminotransferase deficiency
Fish malodor syndrome see trimethylaminuria
Fish odor syndrome see trimethylaminuria
FIVE see ataxia with vitamin E deficiency
FMF see familial Mediterranean fever
FOAR syndrome see Donnai-Barrow syndrome
focal dermal hypoplasia
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
formiminoglutamic aciduria see glutamate formiminotransferase deficiency
formiminotransferase deficiency see glutamate formiminotransferase deficiency
FPO see otopalatodigital syndrome type 1; otopalatodigital syndrome type 2
FPP see enlarged parietal foramina
FPPH see pulmonary arterial hypertension
fra(X) syndrome see fragile X 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
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 ataxia-telangiectasia; ataxia with oculomotor apraxia; autosomal recessive spastic ataxia of Charlevoix-Saguenay; episodic ataxia; Friedreich ataxia; VLDLR-associated cerebellar hypoplasia
FRMD7-related infantile nystagmus see X-linked infantile nystagmus
frontometaphyseal dysplasia
FSH muscular dystrophy see facioscapulohumeral muscular dystrophy
FSHD see facioscapulohumeral muscular dystrophy
Fucosidase deficiency see fucosidosis
fucosidosis
Fukuyama congenital muscular dystrophy
fumarase deficiency
fumarate hydratase deficiency see fumarase deficiency
fumaric aciduria see fumarase deficiency
FXS see fragile X syndrome


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