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Disease	Synonyms	Description	Articles
familial chylomicronemia due to inhibition of lipoprotein lipase activity		A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. [-]
familial GPIHBP1 deficiency	familial glycosylphosphatidylinositol-anchored hig.. [+] familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency; hyperlipoproteinemia type 1D; hyperlipoproteinemia type ID [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. [-]
familial apolipoprotein A5 deficiency	familial apolipoprotein A-V deficiency; familial A.. [+] familial apolipoprotein A-V deficiency; familial APOA5 deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. [-]
familial lipase maturation factor 1 deficiency	familial LMF1 deficiency; combined lipase deficien.. [+] familial LMF1 deficiency; combined lipase deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; LPL and HL deficiency; LPL and HTGL deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. [-]
familial multiple nevi flammei	familial multiple port-wine stains; CMC; congenita.. [+] familial multiple port-wine stains; CMC; congenital capillary malformations [-]	A capillary disease characterized by dark red to p..[+] A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. [-]
familial expansile osteolysis	FEO; McCabe disease; hereditary expansile polyosto.. [+] FEO; McCabe disease; hereditary expansile polyostotic osteolytic dysplasia [-]	A bone remodeling disease characterized by increas..[+] A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. [-]
familial male-limited precocious puberty	familial gonadotropin-independent male-limited sex.. [+] familial gonadotropin-independent male-limited sexual precocity; FMPP; male-limited precocious puberty; testotoxicosis [-]	An endocrine system disease characterized by onset..[+] An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. [-]
familial isolated trichomegaly	long eyelashes; TCMGLY	An eyelid disease characterized by prolonged anage..[+] An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. [-]
familial woolly hair syndrome	familial wooly hair syndrome; hereditary woolly ha.. [+] familial wooly hair syndrome; hereditary woolly hair syndrome; hereditary wooly hair syndrome; woolly hair; wooly hair [-]	A hair disease characterized by fine and tightly c..[+] A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. [-]
Freeman-Sheldon syndrome	craniocarpotarsal dysplasia; whistling face syndro.. [+] craniocarpotarsal dysplasia; whistling face syndrome; whistling face-windmill vane hand syndrome; craniocarpotarsal dystrophy [-]	A distal arthrogryposis characterized by microstom..[+] A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. [-]
familial erythrocytosis 8	bisphosphoglycerate mutase deficiency; bisphosphog.. [+] bisphosphoglycerate mutase deficiency; bisphosphoglyceromutase deficiency; BPGM deficiency; diphosphoglycerate mutase deficiency of erythrocyte; ECYT8; DPGM deficiency; hemolytic anemia due to diphosphoglycerate mutase deficiency [-]	A primary polycythemia characterized by erythrocyt..[+] A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. [-]
familial erythrocytosis 7	alpha-globin type polycythemia; ECYT7; alpha-globi.. [+] alpha-globin type polycythemia; ECYT7; alpha-globin type erythrocytosis [-]	A primary polycythemia characterized by high oxyge..[+] A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. [-]
familial erythrocytosis 6	beta-globin type polycythemia; ECYT6; beta-globin .. [+] beta-globin type polycythemia; ECYT6; beta-globin type erythrocytosis [-]	A primary polycythemia characterized by high oxyge..[+] A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. [-]
familial benign fleck retina	FRFB	A retinal disease characterized by a striking patt..[+] A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. [-]
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
hemolytic disease of the fetus	fetal erythroblastosis; (Haemolytic disease due to.. [+] fetal erythroblastosis; (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn); erythroblastosis fetalis; EF - Erythroblastosis foetalis; Haemolytic disease due to rhesus isoimmunisation; rhesus isoimmunisation of the newborn; alloimmune HDFN; Hemolytic disease of the fetus and newborn [-]	A microcytic anemia that is characterized by Rho(D..[+] A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. [-]

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