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Disease	Synonyms	Description	Articles	Phenotypes
familial adult myoclonic epilepsy	FAME; FCMTE; familial cortical myoclonic tremor an.. [+] FCMTE; FAME; familial cortical myoclonic tremor and epilepsy; BAFME; benign adult familial myoclonus epilepsy; benign adult familial myoclonic epilepsy [-]	An adolescence-adult electroclinical syndrome char..[+] An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. [-]
familial adult myoclonic epilepsy 1	familial cortical myoclonic tremor and epilepsy 1; .. [+] familial cortical myoclonic tremor and epilepsy 1; FCMTE1; FAME1; benign adult familial myoclonic epilepsy 1; BAFME1 [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. [-]
familial adult myoclonic epilepsy 5	FCMTE5; familial cortical myoclonic tremor and epi.. [+] FCMTE5; familial cortical myoclonic tremor and epilepsy 5; FAME5 [-]	A familial adult myoclonic epilepsy characterized ..[+] A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. [-]
familial adult myoclonic epilepsy 2	familial cortical myoclonic tremor and epilepsy 2; .. [+] familial cortical myoclonic tremor and epilepsy 2; FAME2; FCMTE2; ADCME; autosomal dominant cortical myoclonus and epilepsy; BAFME2; benign adult familial myoclonic epilepsy 2 [-]	A familial adult myoclonic epilepsy characterized ..[+] A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. [-]
familial adult myoclonic epilepsy 4	FCMTE4; familial cortical myoclonic tremor and epi.. [+] FCMTE4; familial cortical myoclonic tremor and epilepsy 4; FAME4 [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. [-]
familial adult myoclonic epilepsy 7	FCMTE7; familial cortical myoclonic tremor and epi.. [+] FCMTE7; familial cortical myoclonic tremor and epilepsy 7; FAME7; BAFME7; benign adult familial myoclonic epilepsy 7 [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. [-]
familial adult myoclonic epilepsy 3	FCMTE3; familial cortical myoclonic tremor and epi.. [+] FCMTE3; familial cortical myoclonic tremor and epilepsy 3; FAME3 [-]	A familial adult myoclonic epilepsy characterized ..[+] A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. [-]
familial adult myoclonic epilepsy 6	familial cortical myoclonic tremor and epilepsy 6; .. [+] familial cortical myoclonic tremor and epilepsy 6; FCMTE6; FAME6; benign adult familial myoclonic epilepsy 6; BAFME6 [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. [-]
familial hypertryptophanemia	HYPTRP	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. [-]
focal nonepidermolytic palmoplantar keratoderma	FNEPPK; isolated focal non-epidermolytic palmoplan.. [+] FNEPPK; isolated focal non-epidermolytic palmoplantar keratoderma [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. [-]
focal nonepidermolytic palmoplantar keratoderma 1	FNEPPK1	A focal nonepidermolytic palmoplantar keratoderma ..[+] A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. [-]
focal or diffuse nonepidermolytic palmoplantar keratoderma	PPKNEFD; autosomal dominant focal non-epidermolyti.. [+] PPKNEFD; autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. [-]
focal nonepidermolytic palmoplantar keratoderma 2	FNEPPK2	A focal nonepidermolytic palmoplantar keratoderma ..[+] A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. [-]
familial episodic pain syndrome	FEPS	A peripheral neuropathy characterized by recurrent..[+] A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. [-]
familial episodic pain syndrome 1	FEPS1	A familial episodic pain syndrome characterized by..[+] A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. [-]
familial episodic pain syndrome 2	FEPS2	A familial episodic pain syndrome characterized by..[+] A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. [-]
familial episodic pain syndrome 3	FEPS3	A familial episodic pain syndrome characterized by..[+] A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. [-]
frontometaphyseal dysplasia	FMD	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. [-]
frontometaphyseal dysplasia 1	FMD1	A frontometaphyseal dysplasia characterized by gen..[+] A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. [-]
frontometaphyseal dysplasia 2	FMD2	A frontometaphyseal dysplasia characterized by gen..[+] A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. [-]
Frank-Ter Haar syndrome	FTHS; autosomal recessive Melnick-Needles syndrome.. [+] FTHS; autosomal recessive Melnick-Needles syndrome; Borrone dermatocardioskeletal syndrome; megalocornea, multiple skeletal anomalies, and developmental delay; Ter Haar syndrome [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. [-]
female-restricted syndromic X-linked intellectual disability 99	female-restricted syndromic X-linked mental retard.. [+] female-restricted syndromic X-linked mental retardation 99; MRXS99F; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. [-]
familial thyroid dyshormonogenesis		A congenital hypothyroidism characterized by thyro..[+] A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. [-]
Filippi syndrome	Scott craniodigital syndrome with mental retardati.. [+] Scott craniodigital syndrome with mental retardation; type 1 syndactyly-microcephaly-intellectual disability syndrome [-]	A syndrome characterized by short stature, microce..[+] A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. [-]
focal segmental glomerulosclerosis 3	FSGS3	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. [-]
ossifying fibroma	Fibro-osteoma; peripheral ossifying fibroma	A bone benign neoplasm that is located_in the mout..[+] A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. [-]
MERRF syndrome	Fukuhara syndrome (disorder); Fukuhara syndrome; M.. [+] Fukuhara syndrome; Fukuhara syndrome (disorder); Myoclonic epilepsy - ragged red fibers (disorder); Myoclonus epilepsy AND ragged red fibers (disorder); Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome); Myoclonus epilepsy AND ragged red fibers; Myoclonic epilepsy - ragged red fibers; Myoclonus with epilepsy and with Ragged Red Fibers [-]	n_a	1 articles
tenosynovial giant cell tumor	fibrous histiocytoma of tendon sheath; fibrous his.. [+] fibrous histiocytoma of tendon sheath; fibrous histiocytoma of tendon sheath (disorder); Giant cell tumor of Tenosynovium; Giant cell tumour of Tenosynovium; tenosynovial giant cell tumour; Giant cell tumor of tendon sheath; Giant cell tumour of tendon sheath [-]	n_a
restrictive cardiomyopathy	Familial restrictive cardiomyopathy; Cardiomyopath.. [+] Familial restrictive cardiomyopathy; Cardiomyopathy, constrictive; primary restrictive cardiomyopathy (disorder); Restrictive cardiomyopathy (disorder); primary restrictive cardiomyopathy; Restrictive cardiomyopathy [-]	An intrinsic cardiomyopathy characterized by impai..[+] An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. [-]
agoraphobia	Fear of open spaces; Fear of open spaces (finding).. [+] Fear of open spaces; Fear of open spaces (finding) [-]	A phobic disorder involving the specific anxiety a..[+] A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. [-]
animal phobia	Fear of animals (finding); Fear of animals; Zoopho.. [+] Fear of animals; Fear of animals (finding); Zoophobia (finding); Zoophobia [-]	A specific phobia that involves a fear caused by t..[+] A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. [-]
cancerophobia	Fear of getting cancer; Fear of getting cancer (fi.. [+] Fear of getting cancer; Fear of getting cancer (finding); cancer phobia [-]	n_a
angiokeratoma of Fordyce	Fordyce-type Angiokeratoma of scrotum; Fordyce's s.. [+] Fordyce-type Angiokeratoma of scrotum; Fordyce's spot; Fordyce angiokeratoma; Angiokeratoma of Fordyce (disorder); Angiokeratoma of Fordyce [-]	n_a
liver fibroma	Fibroma of the Liver	n_a
mitral valve prolapse	floppy mitral valve; myxomatous mitral valve prola.. [+] floppy mitral valve; myxomatous mitral valve prolapse; Barlow's syndrome; systolic click-murmur syndrome; mitral leaflet syndrome [-]	A mitral valve disease where one or both of the cu..[+] A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. [-]	1 articles
hyperlipoproteinemia type V	Fredrickson type V lipaemia; familial type 5 hyper.. [+] Fredrickson type V lipaemia; familial type 5 hyperlipoproteinemia; familial type 5 hyperlipoproteinemia (disorder); familial hyperlipoproteinemia type V [-]	n_a
hyperlipoproteinemia type IV	Fredrickson type IV lipidaemia; Fredrickson type I.. [+] Fredrickson type IV lipidaemia; Fredrickson type IV hyperlipoproteinemia; Fredrickson type IV Lipidemia; Fredrickson type IV hyperlipoproteinemia (disorder); familial hypertriglyceridemia; Endogenous hyperlipidaemia; VLDL hyperlipoproteinemia [-]	n_a
nephrotic syndrome	finnish congenital nephrosis	A nephrosis characterized by marked increase in gl..[+] A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. [-]	4 articles
transvestism	Fetishistic transvestism; Fetishistic transvestism.. [+] Fetishistic transvestism; Fetishistic transvestism (disorder); cross dresser; Transvestic fetishism; Dual-role transvestism [-]	n_a
abetalipoproteinemia	familial hypobetalipoproteinemia; microsomal trigl.. [+] familial hypobetalipoproteinemia; microsomal triglyceride transfer protein deficiency disease [-]	A hypolipoproteinemia that is characterized by an ..[+] A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. [-]	1 articles
Tangier disease	familial high density lipoprotein deficiency; fami.. [+] familial high density lipoprotein deficiency; familial hypoalphalipoproteinemia; familial alpha-lipoprotein deficiency [-]	A hypolipoproteinemia that is characterized by mar..[+] A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. [-]
breast fibroadenoma	Fibroadenoma; Fibroadenoma of breast; Fibroadenoma.. [+] Fibroadenoma of breast; Fibroadenoma; Fibroadenoma of breast (disorder); fibroadenoma; Complex Fibroadenoma of breast; Juvenile fibroadenoma (morphologic abnormality); juvenile fibroadenoma of breast; cellular Fibroadenoma; Juvenile fibroadenoma [-]	A breast benign neoplasm comprised of fibrous and ..[+] A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. [-]
McCune Albright syndrome	fibrous dysplasia of bone; fibrous dysplasia of bo.. [+] fibrous dysplasia of bone; fibrous dysplasia of bone (disorder); fibrous Dysplasia of bone; osteitis fibrosa disseminata; polyostotic fibrous dysplasia [-]	A syndrome that is characterized by polyostotic fi..[+] A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. [-]
malignant fibrous histiocytoma	Fibroxanthosarcoma (morphologic abnormality); Fibr.. [+] Fibroxanthosarcoma (morphologic abnormality); Fibroxanthosarcoma; fibrous histiocytoma, malignant (morphologic abnormality); MFH [-]	n_a
Coffin-Siris syndrome	Fifth Digit Syndrome; Short Stature-Onychodysplasi.. [+] Fifth Digit Syndrome; Short Stature-Onychodysplasia.; Dwarfism-Onychodysplasia [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. [-]	2 articles	6 matches
Williams-Beuren syndrome	Fanconi Schlesinger syndrome; WBS	A syndrome that is characterized by mild to modera..[+] A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. [-]	1 articles
vulvar angiokeratoma	Fordyce angiokeratoma of vulva	A vulvar benign neoplasm that is characterized by ..[+] A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis. [-]
essential thrombocythemia	familial thrombocytosis; hereditary thrombocythemi.. [+] familial thrombocytosis; hereditary thrombocythemia; primary Thrombocytosis; hemorrhagic thrombocythemia; Essential thrombocythaemia [-]	A myeloproliferative neoplasm that is characterize..[+] A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. [-]
prothrombin deficiency	Factor II deficiency; hypoprothrombinemia; Congeni.. [+] Factor II deficiency; hypoprothrombinemia; Congenital factor II deficiency; Hereditary factor II deficiency disease [-]	A thrombophilia that is characterized by bleeding ..[+] A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. [-]
congenital afibrinogenemia	Fibrinogen deficiency; Factor I deficiency	A blood coagulation disease that is characterized ..[+] A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). [-]

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