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

• 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