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Disease	Synonyms	Description	Articles	Phenotypes
Fanconi syndrome	adult Fanconi syndrome; De Toni-Fanconi syndrome; .. [+] adult Fanconi syndrome; De Toni-Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Lignac-Fanconi syndrome; Congenital Fanconi syndrome (disorder); Congenital Fanconi syndrome; deToni Fanconi syndrome; adult Fanconi Anemia; [-]	A renal tubular transport disease of the proximal ..[+] A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. [-]	2 articles
Fanconi-Bickel syndrome	FBS; glycogen storage disease XI; glycogenosis typ.. [+] FBS; glycogen storage disease XI; glycogenosis type XI; glycogenosis, Fanconi type; [-]	A glucose metabolism disease characterized by hepa..[+] A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. [-]
Fanconi-like syndrome		A syndrome characterized by pancytopenia, immune d..[+] A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. [-]	1 articles
Far Eastern spotted fever	Rickettsia heilongjiangensis spotted fever;	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. [-]
Farber lipogranulomatosis	Acid Ceramidase Deficiency; Farber Disease; N-LAUR.. [+] Acid Ceramidase Deficiency; Farber Disease; N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY; acid ceramidase deficiency; Farber disease; N-laurylsphingosine deacylase deficiency; [-]	A lipid storage disease that is characterized by a..[+] A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. [-]
Fazio-Londe disease	riboflavin transporter deficiency neuronopathy;	A progressive bulbar palsy that is characterized b..[+] A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. [-]
Feingold syndrome	digital anomalies with short palpebral fissures an.. [+] digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome; oculo-digito-esophageal-duodenal syndrome; ODED syndrome; microcephaly-digital anomalies-normal intelligence syndrome; [-]	A syndrome characterized by variable combinations ..[+] A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [-]
Felty's syndrome	Felty syndrome; Rheumatoid arthritis with splenoad.. [+] Felty syndrome; Rheumatoid arthritis with splenoadenomegaly and leukopenia; [-]	A syndrome that results_in rheumatoid arthritis, s..[+] A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. [-]
Ferguson-Smith tumor	Multiple self-healing epithelioma of Ferguson-Smit.. [+] Multiple self-healing epithelioma of Ferguson-Smith (disorder); Multiple self-healing epithelioma of Ferguson-Smith; [-]	n_a
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. [-]
Finnish type amyloidosis	AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; gels.. [+] AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; gelsolin amyloidosis; Lattice corneal dystrophy type II; [-]	An amyloidosis that is characterized by abnormal d..[+] An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. [-]
Fleck corneal dystrophy	Francois-Neetens speckled corneal dystrophy; FCD;	A stromal dystrophy that is characterized by numer..[+] A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. [-]
Flinders Island spotted fever	FISF; Thai tick typhus;	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. [-]
Floating-Harbor syndrome	FLHS;	A syndrome characterized by growth retardation, pr..[+] A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. [-]
Foster-Kennedy syndrome		n_a
Fox-Fordyce disease	Fox Fordyce disease;	A sweat gland disease that is characterized by dil..[+] A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. [-]
Frank-Ter Haar syndrome	autosomal recessive Melnick-Needles syndrome; Borr.. [+] autosomal recessive Melnick-Needles syndrome; Borrone dermatocardioskeletal syndrome; FTHS; 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. [-]
Fraser syndrome	cryptophthalmos with other malformations;	A syndrome characterized by cryptophthalmos, synda..[+] A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. [-]
Fraser syndrome 1	FRASRS1;	A Fraser syndrome that has_material_basis_in homoz..[+] A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. [-]
Fraser syndrome 2	FRASRS2;	A Fraser syndrome that has_material_basis_in homoz..[+] A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. [-]
Fraser syndrome 3	FRASRS3;	A Fraser syndrome that has_material_basis_in homoz..[+] A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. [-]
Frasier syndrome		A syndrome that is characterized by gonadal dysgen..[+] A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. [-]
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. [-]
French Canadian Leigh disease	French Canadian type COX deficiency; French Canadi.. [+] French Canadian type COX deficiency; French Canadian type cytochrome c oxidase deficiency; French Canadian type Leigh syndrome; Saguenay Lac saint Jean type Leigh syndrome; Saguenay Lac saint Jean type COX deficiency; mitochondrial complex IV deficiency nuclear type 5; [-]	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. [-]
Frey syndrome	Baillarger syndrome; gustatory hyperhidrosis (diso.. [+] Baillarger syndrome; gustatory hyperhidrosis (disorder); gustatory sweating; gustatory hyperhidrosis; [-]	An autonomic nervous system disease that is charac..[+] An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. [-]
Friedreich ataxia	Friedreich ataxia 1; Friedreich's ataxia; Friedrei.. [+] Friedreich ataxia 1; Friedreich's ataxia; Friedreich's tabes; [-]	n_a
Friedreich ataxia 1	FA1; FRDA1;	A Friedreich ataxia that has_material_basis_in hom..[+] A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. [-]
Friedreich ataxia 2	FRDA2;	A Friedreich ataxia that has_material_basis_in mut..[+] A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. [-]
Froelich syndrome	adiposogenital syndrome; Babinski-Froelich syndrom.. [+] adiposogenital syndrome; Babinski-Froelich syndrome; Froehlich's syndrome; Froelich's syndrome; Froehlich syndrome; [-]	A hypothalamic disease that is characterized by en..[+] A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. [-]
Fuchs' endothelial dystrophy	FCED; Fuchs' endothelial corneal dystrophy; Fuchs'.. [+] FCED; Fuchs' endothelial corneal dystrophy; Fuchs' corneal dystrophy; [-]	A corneal dystrophy characterized by accumulation ..[+] A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. [-]	2 articles
Fuchs' heterochromic uveitis	Fuch's Heterochromic iridocyclitis; Fuchs' heteroc.. [+] Fuch's Heterochromic iridocyclitis; Fuchs' heterochromic cyclitis; Fuchs uveitis syndrome; [-]	A syndrome that is a chronic unilateral (or rarely..[+] A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. [-]
Fuhrmann syndrome		A bone development disease that is characterized b..[+] A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. [-]
Fukuyama congenital muscular dystrophy		A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. [-]
GABA aminotransferase deficiency	Gamma-amino butyric acid transaminase deficiency; .. [+] Gamma-amino butyric acid transaminase deficiency; gamma-aminobutyric acid transaminase deficiency; [-]	A gamma-amino butyric acid metabolism disorder tha..[+] A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. [-]
GAND syndrome	autosomal dominant mental retardation 18; MRD18; a.. [+] autosomal dominant mental retardation 18; MRD18; autosomal dominant intellectual developmental disorder 18; autosomal dominant non-syndromic intellectual disability 18; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. [-]
GAPO syndrome	growth delay-alopecia-pseudoanodontia-optic atroph.. [+] growth delay-alopecia-pseudoanodontia-optic atrophy syndrome; [-]	A syndrome characterized by growth retardation, al..[+] A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. [-]
GM1 gangliosidosis	Beta-galactosidase deficiency; beta-Galactosidase .. [+] Beta-galactosidase deficiency; beta-Galactosidase deficiency; deficiency of beta-galactosidase (disorder); GM>1< gangliosidosis (disorder); Landing syndrome; GM1 gangliosidosis (disorder); deficiency of beta-galactosidase; gangliosidosis GM1; [-]	A gangliosidosis that is characterized by progress..[+] A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. [-]
GM1 gangliosidosis type 1		A GM1 gangliosidosis that is characterized by rapi..[+] A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. [-]
GM1 gangliosidosis type 2	juvenile GM1 gangliosidosis;	A GM1 gangliosidosis that is characterized by slow..[+] A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. [-]
GM1 gangliosidosis type 3	adult-onset GM1 gangliosidosis;	A GM1 gangliosidosis that is characterized by neur..[+] A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years. [-]
GM2 gangliosidosis	GM>2< gangliosidosis (disorder); gangliosidosis GM.. [+] GM>2< gangliosidosis (disorder); gangliosidosis GM2; [-]	A gangliosidosis that is characterized by excessiv..[+] A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes. [-]
GM2 gangliosidosis, AB variant	Tay-Sachs disease, variant AB (disorder); Tay-Sach.. [+] Tay-Sachs disease, variant AB (disorder); Tay-Sachs disease AB variant; Tay-Sachs disease, variant AB; [-]	A GM2 gangliosidosis that is characterized by norm..[+] A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. [-]
GNE myopathy	Distal Myopathy with Rimmed Vacuoles; Distal myopa.. [+] Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; Hereditary Inclusion Body Myopathy; inclusion body myopathy 2; Nonaka myopathy; [-]	A myopathy that is characterized by progressive sk..[+] A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. [-]
GRACILE syndrome	Fellman disease; Finnish lethal neonatal metabolic.. [+] Fellman disease; Finnish lethal neonatal metabolic syndrome; growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; FLNMS; Finnish lactic acidosis with hepatic hemosiderosis; growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death; [-]	A mitochondrial disorder characterized by fetal gr..[+] A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. [-]
GRID2-related spinocerebellar ataxia		n_a
Galloway-Mowat syndrome		A syndrome that is characterized by developmental ..[+] A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. [-]	3 articles	21 matches
Galloway-Mowat syndrome 1	Galloway syndrome; nephrosis-microcephaly syndrome.. [+] Galloway syndrome; nephrosis-microcephaly syndrome; nephrosis-neuronal dysmigration syndrome; microcephaly, hiatal hernia and nephrotic syndrome; autosomal recessive spinocerebellar ataxia 5; SCAR5; [-]	A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. [-]	2 articles	21 matches
Galloway-Mowat syndrome 2		A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. [-]
Galloway-Mowat syndrome 3		A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. [-]
Galloway-Mowat syndrome 4		A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. [-]

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