Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

F 1/2

• F syndrome - See Acropectorovertebral dysplasia F form
• F. Oryzihabitans infection - See Flavimonas oryzihabitans infection
• F10 deficiency - See Factor X deficiency
• F11 deficiency - See Factor XI deficiency
• F12 deficiency - See Factor XII deficiency
• F2-Related Thrombophilia - See Prothrombin-related thrombophilia
• F7 deficiency - See Factor VII deficiency
• FAA4 - See Aortic aneurysm, familial thoracic 4
• Fabry disease
• Face blindness - See Developmental prosopagnosia
• FACES syndrome
• Facial arteriovenous malformation
• Facial asymmetry temporal seizures
• Facial clefting corpus callosum agenesis
• Facial cranial nerve paralysis - See Bell's palsy
• Facial dysmorphism - intellectual deficit - short stature - hearing loss - See Myhre syndrome
• Facial dysmorphism shawl scrotum joint laxity - See Seaver Cassidy syndrome
• Facial ectodermal dysplasia
• Facial features (unique), anorexia, cachexia, eye and skin anomalies - See FACES syndrome
• Facial infiltrating lipomatosis
• Facial nerve palsy - See Bell's palsy
• Facial nerve palsy due to herpes zoster infection - See Herpes zoster oticus
• Facial nerve palsy due to VZV - See Herpes zoster oticus
• Facial nerve paralysis due to VZV - See Herpes zoster oticus
• Facial onset sensorimotor neuronopathy syndrome - See Facial onset sensory and motor neuronopathy
• Facial onset sensory and motor neuronopathy
• Facial onset sensory and motor neuronopathy syndrome - See Facial onset sensory and motor neuronopathy
• Facial palsy - See Bell's palsy
• Facial paralysis - See Bell's palsy
• Facial paresis hereditary congenital - See Hereditary congenital facial paresis
• Facio digito genital syndrome recessive form
• Facio skeletal genital syndrome Rippberger type
• Facio thoraco genital syndrome
• Facioaudiosymphalangism syndrome - See Multiple synostoses syndrome 1
• Facioauriculovertebral dysplasia - See Goldenhar disease
• Facioauriculovertebral sequence - See Goldenhar disease
• Faciocardiomelic dysplasia lethal
• Faciocardiorenal syndrome
• Faciocutaneoskeletal syndrome - See Costello syndrome
• Faciodigitogenital syndrome - See Aarskog syndrome
• Faciogenital dysplasia - See Aarskog syndrome
• Faciogenitopopliteal syndrome - See Popliteal pterygium syndrome
• Faciomandibular myoclonus, nocturnal
• Faciooculoacousticorenal syndrome - See Donnai-Barrow syndrome
• Faciopalatoosseous syndrome - See Oto-palato-digital syndrome type 2
• Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation - See Foix Chavany Marie syndrome
• Facioscapulohumeral muscular dystrophy
• Facioscapulohumeral muscular dystrophy 1A - See Facioscapulohumeral muscular dystrophy
• Faciothoracoskeletal syndrome - See Camptodactyly syndrome Guadalajara type 1
• Factor 12 deficiency - See Factor XII deficiency
• Factor 7 deficiency - See Factor VII deficiency
• Factor 8 deficiency - See Hemophilia A
• Factor II deficiency - See Prothrombin deficiency
• Factor II-related thrombophilia - See Prothrombin-related thrombophilia
• Factor IX deficiency - See Hemophilia B
• Factor V deficiency
• Factor V Leiden thrombophilia - not a rare disease
• Factor V Quebec - See Quebec platelet disorder
• Factor VII deficiency
• Factor VIII deficiency - See Hemophilia A
• Factor X deficiency
• Factor X deficiency, congenital - See Factor X deficiency
• Factor XI deficiency
• Factor XII deficiency
• Factor XIII deficiency
• FAD - See Familial Alzheimer disease
• FADH deficiency - See Sjogren-Larsson syndrome
• FADS - See Fetal akinesia deformation sequence
• FAH deficiency - See Tyrosinemia type 1
• FAHN - See Fatty acid hydroxylase-associated neurodegeneration
• Fahr disease, familial (formerly) - See Primary Familial Brain Calcification
• Fahr's Syndrome (formerly) - See Primary Familial Brain Calcification
• Fairbank-Keats syndrome - See Osteoglophonic dysplasia
• Faisalabad histiocytosis - See Histiocytosis-lymphadenopathy plus syndrome
• FALDH deficiency - See Sjogren-Larsson syndrome
• Fallopian tube cancer
• Fallot complex with severe mental and growth retardation
• Fallot tetralogy - See Tetralogy of Fallot
• False bundle branch block syndrome - See Wolff-Parkinson-White syndrome - not a rare disease
• Familiaere Cholesterin-Pneumonie - See Cholesterol pneumonia
• Familial absence of the patella - See Absent patella
• Familial acrogeria - See Acrogeria, Gottron type
• Familial acute necrotizing encephalopathy - See Infection-induced acute encephalopathy 3
• Familial adenomatous polyposis
• Familial adenomatous polyposis of the colon - See Familial adenomatous polyposis
• Familial adrenal adenoma - See Familial hyperaldosteronism type 2
• Familial advanced sleep phase syndrome - See Advanced sleep phase syndrome, familial
• Familial Alzheimer disease
• Familial Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
• Familial Alzheimer disease - See Familial Alzheimer disease
• Familial amniotic bands - See Amniotic band syndrome
• Familial amyloid nephropathy - See Amyloidosis familial visceral
• Familial amyloid polyneuropathy - See Familial transthyretin amyloidosis
• Familial amyloid polyneuropathy type IV - See Familial amyloidosis, Finnish type
• Familial amyloidosis - See Hereditary amyloidosis
• Familial amyloidosis, Finnish type
• Familial ankylosing vertebral hyperostosis with tylosis - See Ankylosing vertebral hyperostosis with tylosis
• Familial anomalous origin of right pulmonary artery - See Anomalous origin of right pulmonary artery familial
• Familial antiphospholipid syndrome - See Antiphospholipid syndrome
• Familial aortic aneurysm - See Familial thoracic aortic aneurysm and dissection
• Familial aortic dissection - See Familial thoracic aortic aneurysm and dissection
• Familial apatite disease - See Chondrocalcinosis due to apatite crystal deposition
• Familial aplasia of the patella (subtype) - See Absent patella
• Familial apoceruloplasmin deficiency - See Aceruloplasminemia
• Familial apple peel jejunal atresia - See Jejunal atresia
• Familial ARPA - See Anomalous origin of right pulmonary artery familial
• Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension
• Familial articular chondrocalcinosis - See Chondrocalcinosis 2
• Familial ataxia, deafness, and developmental delay - See Reardon Wilson Cavanagh syndrome
• Familial ataxia-hypogonadism syndrome - See Richards-Rundle syndrome
• Familial atrial fibrillation
• Familial Atypical Mole Melanoma Syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial atypical mole syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial atypical multiple mole melanoma-pancreatic carcinoma - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial auto-immune hemolytic anemia (subtype) - See Autoimmune hemolytic anemia
• Familial avascular necrosis of the femoral head
• Familial band heterotopia
• Familial benign copper deficiency - See Copper deficiency, familial benign
• Familial benign essential hematuria - See Thin basement membrane nephropathy - not a rare disease
• Familial benign hypercalcemia - See Familial hypocalciuric hypercalcemia
• Familial benign hypercalcemia type 1 - See Familial hypocalciuric hypercalcemia type 1
• Familial benign hypercalcemia, Oklahoma variant - See Familial hypocalciuric hypercalcemia type 3
• Familial benign hypercalcemia, type 2 - See Familial hypocalciuric hypercalcemia type 2
• Familial benign hypercalcemia, type 3 - See Familial hypocalciuric hypercalcemia type 3
• Familial benign hypocupremia - See Copper deficiency, familial benign
• Familial benign pemphigus - See Hailey-Hailey disease
• Familial benign recurrent vertigo - See Benign paroxysmal positional vertigo
• Familial bilateral optic nerve hypoplasia - See Optic nerve hypoplasia, familial bilateral
• Familial bilateral striatal necrosis
• Familial biparental hydatidiform mole - See Recurrent hydatidiform mole
• Familial brain cavernous angioma - See Familial cerebral cavernous malformation
• Familial brain cavernous hemangioma - See Familial cerebral cavernous malformation
• Familial breast cancer - not a rare disease
• Familial breast carcinoma - See Familial breast cancer - not a rare disease
• Familial British dementia - See Dementia familial British
• Familial cafe´-au-lait spots - See Autosomal dominant café au lait spots
• Familial Calcium pyrophosphate dihydrate deposition disease - See Chondrocalcinosis 2
• Familial capillaro-venous leptomeningeal angiomatosis
• Familial caudal dysgenesis
• Familial caudal dysgenesis - See Sacral defect with anterior meningocele
• Familial cerebral cavernoma - See Familial cerebral cavernous malformation
• Familial cerebral cavernous malformation
• Familial chloride diarrhea - See Congenital chloride diarrhea
• Familial chronic mucocutaneous candidiasis - See Candidiasis familial chronic mucocutaneous, autosomal recessive
• FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT - See Candidiasis familial chronic mucocutaneous, autosomal dominant
• Familial Clark nevus syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial cold autoinflammatory syndrome
• Familial cold urticaria - See Familial cold autoinflammatory syndrome
• Familial colorectal cancer
• Familial congenital controlateral synkinesia - See Congenital mirror movement disorder
• Familial congenital cornea guttata with anterior polar cataracts (type) - See Cornea guttata with anterior polar cataract
• Familial congenital hypopituitarism - See Combined pituitary hormone deficiencies, genetic forms
• Familial congenital mirror movements - See Congenital mirror movement disorder
• Familial congenital moderate neural hearing loss - See Conductive deafness with malformed external ear
• Familial congenital muscular dystrophy with gonadal dysgenesis - See Muscular dystrophy, congenital, infantile with cataract and hypogonadism
• Familial congenital palsy of trochlear nerve
• Familial continuous skin peeling - See Peeling skin syndrome
• Familial continuous skin peeling syndrome - See Peeling skin syndrome
• Familial Cushing's syndrome - See Cushing syndrome, familial
• Familial cutaneous collagenoma
• Familial cyclic vomiting syndrome (subtype) - See Cyclic vomiting syndrome - not a rare disease
• Familial cylindromatosis
• Familial Danish dementia - See Dementia, familial Danish
• Familial deafness
• Familial defective apolipoprotein B-100 - See Autosomal dominant type B hypercholesterolemia - not a rare disease
• Familial dementia, British type - See Dementia familial British
• Familial dermatofibrosarcoma protuberans (subtype) - See Dermatofibrosarcoma protuberans
• Familial dermatographism - See Familial dermographism
• Familial dermographism
• Familial diffuse cancer of stomach - See Hereditary diffuse gastric cancer
• Familial diffuse gastric cancer - See Hereditary diffuse gastric cancer
• Familial dilated cardiomyopathy
• Familial dilated cardiomyopathy associated with cataracts and hip-spine disease - See Cardiomyopathy cataract hip spine disease
• Familial Dupuytren contracture - not a rare disease
• Familial dwarfism and painful muscle spasms - See Dwarfism familial with muscle spasms
• Familial dysautonomia
• Familial dysautonomia, type 2 - See Congenital insensitivity to pain with anhidrosis
• Familial dysautonomia, type II - See Congenital insensitivity to pain with anhidrosis
• Familial dysbetalipoproteinemia - See Hyperlipidemia type 3
• Familial dyschondroplasia - See Upington disease
• Familial dysfibrinogenemia - See Dysfibrinogenemia
• Familial dyskinesia and facial myokymia - See ADCY5-related dyskinesia
• Familial dysplastic nevus syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial ectodermal dysplasia with sensori-neural deafness and other anomalies - See Autosomal dominant deafness-onychodystrophy syndrome
• Familial ectopia lentis - See Isolated ectopia lentis
• Familial ectopic ossification - See Progressive osseous heteroplasia
• Familial ectopic pupil - See Ectopia pupillae
• Familial encephalopathy with neuroserpin inclusion bodies
• Familial enteropathy, microvillus - See Microvillus inclusion disease
• Familial eosinophilia
• Familial epilepsy and mental retardation limited to females - See PCDH19-related female-limited epilepsy
• Familial episodic pain syndrome
• Familial erythema nodosum
• Familial erythrocytosis - See Primary familial and congenital polycythemia
• Familial erythrocytosis 1 - See Primary familial and congenital polycythemia
• Familial erythrocytosis type 1 - See Primary familial and congenital polycythemia
• Familial erythrophagocytic lymphohistiocytosis - See Hemophagocytic lymphohistiocytosis
• Familial essential tremor - See Essential tremor - not a rare disease
• Familial expansile osteolysis - See Polyostotic osteolytic dysplasia, hereditary expansile
• Familial exudative vitreoretinopathy
• Familial fatal insomnia - See Fatal familial insomnia
• Familial fat-induced hypertriglyceridemia - See Familial lipoprotein lipase deficiency
• Familial Felty's syndrome - See Felty's syndrome
• Familial focal epilepsy with variable foci
• Familial foveal retinoschisis - See Retinoschisis of Fovea
• Familial gingival fibromatosis associated with progressive deafness - See Jones syndrome
• Familial glucocorticoid deficiency
• Familial hand abnormality and sensori-neural deafness - See Arthrogryposis-like hand anomaly and sensorineural deafness
• Familial HCM - See Familial hypertrophic cardiomyopathy
• Familial HDL deficiency
• Familial hematuric nephritis - See Thin basement membrane nephropathy - not a rare disease
• Familial hemiplegic migraine
• Familial hemiplegic migraine type 1
• Familial hemiplegic migraine type 2
• Familial hemiplegic migraine type 3
• Familial hemophagocytic lymphohistiocytosis - See Hemophagocytic lymphohistiocytosis
• Familial hibernation syndrome - See Kleine Levin syndrome
• Familial Hibernian fever - See Tumor necrosis factor receptor-associated periodic syndrome
• Familial high density lipoprotein deficiency disease - See Tangier disease
• Familial Hirschsprung's disease and type D brachydactyly - See Hirschsprung disease type d brachydactyly
• Familial histiocytic reticulosis - See Hemophagocytic lymphohistiocytosis
• Familial hydroa vacciniforme - See Hydroa vacciniforme, familial
• Familial hydrocephalus with a low-insertion umbilicus - See Palmer Pagon syndrome
• Familial hyperaldosteronism type 1 - See Glucocorticoid-remediable aldosteronism
• Familial hyperaldosteronism type 2
• Familial hyperaldosteronism type 3 - See Familial hyperaldosteronism type III
• Familial hyperaldosteronism type II - See Familial hyperaldosteronism type 2
• Familial hyperaldosteronism type III
• Familial hypercholesterolemia - not a rare disease
• Familial hypercholesterolemia due to ligand-defective - See Autosomal dominant type B hypercholesterolemia - not a rare disease
• Familial hypercholesterolemic xanthomatosis - See Familial hypercholesterolemia - not a rare disease
• Familial hyperchylomicronemia - See Familial lipoprotein lipase deficiency
• Familial hyperestrogenism - See Aromatase excess syndrome
• Familial hyperinsulinism - See Congenital hyperinsulinism
• Familial hypersecretion of adrenal androgens
• Familial hypertension - not a rare disease
• Familial hyperthyroidism due to mutations in TSH receptor
• Familial hypertrophic cardiomyopathy
• Familial Hypoalphalipo-proteinemia - See Tangier disease
• Familial hypobetalipoproteinemia
• Familial hypocalciuric hypercalcemia
• Familial hypocalciuric hypercalcemia type 1
• Familial hypocalciuric hypercalcemia type 2
• Familial hypocalciuric hypercalcemia type 3
• Familial hypogonadotropic eunuchoidism - See Eunuchoidism familial hypogonadotropic
• Familial hypokalemia-hypomagnesemia - See Gitelman syndrome
• Familial hypopituitarism
• Familial hypotransferrinemia - See Atransferrinemia
• Familial idiopathic basal ganglia calcification (formerly) - See Primary Familial Brain Calcification
• Familial idiopathic hypertrophic osteoarthropathy and cranial suture defects - See Reginato Shiapachasse syndrome
• Familial idiopathic nephrotic syndrome - See Focal segmental glomerulosclerosis
• Familial idiopathic nephrotic syndrome - See Nephrotic syndrome, idiopathic, steroid-resistant
• Familial idiopathic priapism - See Priapism
• Familial idiopathic pulmonary fibrosis - See Idiopathic pulmonary fibrosis
• Familial idiopathic steroid-resistant nephrotic syndrome - See Focal segmental glomerulosclerosis
• Familial idiopathic steroid-resistant nephrotic syndrome - See Nephrotic syndrome, idiopathic, steroid-resistant
• Familial incomplete male pseudohermaphroditism, type 2 - See 5-alpha reductase deficiency
• Familial infantile hypoglycemia precipitated by leucine - See Leucine-sensitive hypoglycemia of infancy
• Familial infantile nephrotic syndrome with ocular abnormalities - See Nephrotic syndrome ocular anomalies
• Familial infiltrative fibromatosis - See Desmoid tumor
• Familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps - See Acanthosis nigricans muscle cramps acral enlargement
• Familial interstitial fibrosis
• Familial intestinal polyatresia syndrome - See Intestinal atresia multiple
• Familial intestinal polyposis - See Familial adenomatous polyposis
• Familial intrahepatic cholestasis of pregnancy - See Intrahepatic cholestasis of pregnancy
• Familial isolated deficiency of vitamin E - See Ataxia with vitamin E deficiency
• Familial isolated hyperparathyroidism
• Familial isolated pituitary adenoma
• Familial isolated pituitary adenoma syndrome - See Familial isolated pituitary adenoma
• Familial isolated vitamin E deficiency - See Ataxia with vitamin E deficiency
• Familial joint instability syndrome - See Familial joint instability syndrome
• Familial joint instability syndrome
• Familial Juvenile Hyperuricemic Nephropathy 1 - See UMOD-related autosomal dominant tubulointerstitial kidney disease
• Familial juvenile hyperuricemic nephropathy type 2 - See REN-related autosomal dominant tubulointerstitial kidney disease
• Familial Kleine-Levin syndrome - See Kleine Levin syndrome
• Familial koilonychia - See Hereditary koilonychia
• Familial LCAT deficiency
• Familial leiomyomatosis - See Hereditary leiomyomatosis and renal cell cancer
• Familial Lenègre disease - See Familial progressive cardiac conduction defect
• Familial Lev disease - See Familial progressive cardiac conduction defect
• Familial Lev-Lenègre disease - See Familial progressive cardiac conduction defect
• Familial ligand-defective apolipoprotein B-100 - See Autosomal dominant type B hypercholesterolemia - not a rare disease
• Familial limb deficiency - See Hoon Hall syndrome
• Familial lipomyelomeningocele - See Lipomyelomeningocele
• Familial lipoprotein lipase deficiency
• Familial LPL deficiency - See Familial lipoprotein lipase deficiency
• Familial Marcus Gunn phenomenon (subtype) - See Marcus Gunn phenomenon
• Familial Mediterranean fever
• Familial megaloblastic anemia - See Imerslund-Grasbeck syndrome
• Familial mesangial sclerosis - See Diffuse mesangial sclerosis
• Familial microtia and meatal atresia - See Microtia, meatal atresia and conductive deafness
• Familial microtia with meatal atresia and conductive deafness - See Microtia, meatal atresia and conductive deafness
• Familial middle ear ossicular anomalies - See Ossicular Malformations, familial
• Familial mixed cryoglobulinemia
• Familial multiple lipomatosis
• Familial multiple polyposis - See Familial adenomatous polyposis
• Familial multiple trichodiscomas
• Familial multiple trichoepithelioma - See Multiple familial trichoepithelioma
• Familial nasal acilia
• Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome - See Daentl Towsend Siegel syndrome
• Familial neurocardiogenic syncope
• Familial non-immune hydrops fetalis - See Hydrops fetalis
• Familial non-immune hyperthyroidism - See Familial hyperthyroidism due to mutations in TSH receptor
• Familial nonmedullary thyroid cancer, papillary - See Papillary thyroid carcinoma
• Familial nonpolyposis colon cancer - See Lynch syndrome - not a rare disease
• Familial nonsyndromal Mondini dysplasia (subtype) - See Mondini dysplasia
• Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity - See FLOTCH syndrome
• Familial ocular anterior segment mesenchymal dysgenesis - See Anterior segment dysgenesis
• Familial opposable triphalangeal thumbs associated with duplication of the big toes - See Merlob Grunebaum Reisner syndrome
• Familial opticoacoustic nerve degeneration and polyneuropathy - See Charcot-Marie-Tooth disease
• Familial orthostatic tachycardia due to norepinephrine transporter deficiency - See Orthostatic intolerance due to NET deficiency
• Familial ossicular malformations - See Ossicular Malformations, familial
• Familial osteochondritis dissecans
• Familial osteonecrosis of the femoral head - See Familial avascular necrosis of the femoral head
• Familial oto-facio-cervical dysmorphia - See Fara Chlupackova syndrome
• Familial Paget disease of bone - See Paget disease of bone, familial
• Familial PAH, leucopenia and ASD - See Familial pulmonary arterial hypertension leucopenia and atrial septal defect
• Familial pancreatic cancer
• Familial pancreatic carcinoma - See Familial pancreatic cancer
• Familial paroxysmal kinesigenic dyskinesia - See Paroxysmal kinesigenic choreoathetosis
• Familial paroxysmal polyserositis - See Familial Mediterranean fever
• Familial partial epilepsy with variable foci - See Familial focal epilepsy with variable foci
• Familial partial lipodystrophy
• Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy
• Familial partial lipodystrophy associated with PPARG mutations
• Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy
• Familial partial lipodystrophy type 1 - See Familial partial lipodystrophy type Köbberling
• Familial partial lipodystrophy type 2
• Familial partial lipodystrophy type 3 - See Familial partial lipodystrophy associated with PPARG mutations
• Familial partial lipodystrophy type 4 - See Familial partial lipodystrophy
• Familial partial lipodystrophy type Köbberling
• Familial partial lipodystrophy, Dunnigan type - See Familial partial lipodystrophy type 2
• Familial partial lipodystrophy, Köbberling type - See Familial partial lipodystrophy type Köbberling
• Familial partial paralysis
• Familial PCCD - See Familial progressive cardiac conduction defect
• Familial periodic paralysis
• Familial persistent pulmonary hypertension of the newborn - See Alveolar capillary dysplasia
• Familial pheochromocytoma-paraganglioma - See Hereditary paraganglioma-pheochromocytoma
• Familial pigmented purpuric eruption - See Pigmented purpuric dermatosis
• Familial PKD - See Paroxysmal kinesigenic choreoathetosis
• Familial platelet disorder with associated myeloid malignancy
• Familial platelet syndrome with predisposition to acute myelogenous leukemia - See Familial platelet disorder with associated myeloid malignancy
• Familial polymorphic ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
• Familial polymorphous cold eruption - See Familial cold autoinflammatory syndrome
• Familial polyposis of the colon - See Familial adenomatous polyposis
• Familial porencephalic white matter disease - See Familial porencephaly
• Familial porencephaly
• Familial posterior lumbosacral vertebral fusion and eyelid ptosis - See Vertebral fusion posterior lumbosacral blepharoptosis
• Familial precocious puberty - See Precocious puberty
• Familial premature ovarian failure - See FMR1-related primary ovarian insufficiency
• Familial primary biliary cirrhosis - See Primary biliary cholangitis
• Familial primary gastric lymphoma - See Gastric lymphoma
• Familial primary hyperparathyroidism - See Familial isolated hyperparathyroidism
• Familial primary hyperparathyroidism with multiple ossifying jaw fibromas - See Hyperparathyroidism-jaw tumor syndrome
• Familial primary hypomagnesemia
• Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
• Familial progressive cardiac conduction defect
• Familial progressive heart block - See Familial progressive cardiac conduction defect
• Familial progressive myoclonic epilepsy - See Progressive myoclonic epilepsy
• Familial progressive supranuclear palsy (type) - See Progressive supranuclear palsy
• Familial progressive vestibulocochlear dysfunction - See Vestibulocochlear dysfunction, progressive
• Familial prostate cancer
• Familial pulmonary arterial hypertension - See Pulmonary arterial hypertension
• Familial pulmonary arterial hypertension leucopenia and atrial septal defect
• Familial pulmonary arterial hypertension, leucopenia and ASD - See Familial pulmonary arterial hypertension leucopenia and atrial septal defect
• Familial pulmonary capillary hemangiomatosis - See Hemangiomatosis, familial pulmonary capillary
• Familial pyrimidinemia - See Dihydropyrimidine dehydrogenase deficiency - not a rare disease
• Familial reactive perforating collagenosis
• Familial rectal pain - See Paroxysmal extreme pain disorder
• Familial rectal syndrome - See Paroxysmal extreme pain disorder
• Familial recurrent arthritis - See Pyogenic arthritis, pyoderma gangrenosum and acne
• Familial recurrent hydatidiform mole - See Recurrent hydatidiform mole
• Familial recurrent intrahepatic cholestasis of pregnancy - See Intrahepatic cholestasis of pregnancy
• Familial remitting chorea, nystagmus and cataracts - See Chorea, remitting with nystagmus and cataracts
• Familial renal amyloidosis - See Amyloidosis familial visceral
• Familial reticulate acropigmentation of Dohi - See Dyschromatosis symmetrica hereditaria 1
• Familial retinal arterial macroaneurysm - See Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• Familial rhizomelic dysplasia - See Rhizomelic syndrome
• Familial Scheuermann disease - See Scheuermann disease
• Familial Scheuermann juvenile kyphosis - See Scheuermann disease
• Familial schizencephaly - See Schizencephaly
• Familial short stature with facial dysmorphism and osteochondrodysplastic lesions - See Short stature syndrome, Brussels type
• Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails - See Zori Stalker Williams syndrome
• Familial sick sinus syndrome
• Familial sinus node dysfunction - See Familial sick sinus syndrome
• Familial spasmodic torticollis - See Torticollis, familial
• Familial spastic paraparesis - See Hereditary spastic paraplegia
• Familial spastic paraparesis and deafness - See Wells-Jankovic syndrome
• Familial spastic paraplegia - See Hereditary spastic paraplegia
• Familial spastic paraplegia autosomal dominant 2 - See Spastic paraplegia 4
• Familial spastic paraplegia autosomal dominant 3 - See Spastic paraplegia 6
• Familial spastic paraplegia with neuropathy and poikiloderma - See Spastic paraplegia neuropathy poikiloderma
• Familial spastic paraplegia, mental retardation, and precocious puberty - See Spastic paraplegia with precocious puberty
• Familial spinal osteochondrosis - See Scheuermann disease
• Familial spontaneous pneumothorax - See Primary spontaneous pneumothorax
• Familial stomach cancer
• Familial stomach carcinoma - See Familial stomach cancer
• Familial streblodactyly
• Familial susceptibility to breast-ovarian cancer 1 - See BRCA1 hereditary breast and ovarian cancer syndrome
• Familial susceptibility to breast-ovarian cancer 2 - See BRCA2 hereditary breast and ovarian cancer syndrome
• Familial symmetric lipomatosis - See Multiple symmetric lipomatosis
• Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions - See Boudhina Yedes Khiari syndrome
• Familial syndrome of aniridia and absence of the patella - See Aniridia absent patella
• Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism - See Aortic arch anomaly - peculiar facies - intellectual disability
• Familial syndrome of short stature, deformities of the hands and feet, and unusual facies - See Hand and foot deformity with flat facies
• Familial TAAD - See Familial thoracic aortic aneurysm and dissection
• Familial temporal lobe epilepsy - See Temporal epilepsy, familial
• Familial Testotoxicosis (subtype) - See Testotoxicosis
• Familial tetralogy of fallot and glaucoma - See Tetralogy of fallot and glaucoma
• Familial thoracic aortic aneurysm - See Familial thoracic aortic aneurysm and dissection
• Familial thoracic aortic aneurysm and aortic dissection - See Familial thoracic aortic aneurysm and dissection
• Familial thoracic aortic aneurysm and dissection
• Familial thrombocytopenia with propensity to acute myelogenous leukemia - See Familial platelet disorder with associated myeloid malignancy
• Familial thyroglossal duct cyst
• Familial torticollis - See Torticollis, familial
• Familial transient erythroblastopenia of childhood - See Transient erythroblastopenia of childhood
• Familial transthyretin amyloidosis
• Familial trigeminal anesthesia - See Corneal hypesthesia, familial
• Familial tumoral calcinosis
• Familial tylosis (subtype) - See Tylosis
• Familial type IV hyperlipoproteinemia - See Hyperlipoproteinemia type 4
• Familial ulnar aplasia and lobster claw syndrome - See Ulnar hypoplasia lobster claw deformity of feet
• Familial unilateral and bilateral occipital calcifications and epilepsy - See Epilepsy occipital calcifications
• Familial vascular leukoencephalopathy - See CADASIL
• Familial vasovagal syncope - See Familial neurocardiogenic syncope
• Familial ventricular tachycardia
• Familial vestibulopathy - See Benign paroxysmal positional vertigo
• Familial visceral myopathy with external ophthalmoplegia
• Familial vocal cord dysfunction - See Vocal cord dysfunction familial
• Familial Waldmann's disease (type) - See Primary intestinal lymphangiectasia
• Familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency - SeeWhite matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
• Familial Wilms tumor 2
• Familial woolly hair (autosomal recessive) - See Woolly hair syndrome
• Familial Xanthomatosis - See Wolman disease
• Familial X-linked 1 atypical mycobacteriosis - See NF-kappa B Essential Modulator Deficiency
• FAMMM syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• FAMM-PC syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Fanconi anemia
• Fanconi Bickel syndrome
• Fanconi pancytopenia - See Fanconi anemia
• Fanconi syndrome
• Fanconi syndrome with intestinal malabsorption and galactose intolerance - See Fanconi Bickel syndrome
• Fanconi's anemia - See Fanconi anemia