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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
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. [-]
Galloway-Mowat syndrome 5		A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. [-]
Gamstorp-Wohlfart syndrome	autosomal recessive neuromyotonia and axonal neuro.. [+] autosomal recessive neuromyotonia and axonal neuropathy; myokymia, myotonia and muscle wasting; [-]	A syndrome characterized by progressive weakness a..[+] A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. [-]	1 articles
Gasserian ganglion meningioma	meningioma of Gasserian Ganglion;	n_a
Gaucher's disease	glocucerebrosidase deficiency; kerasin thesaurismo.. [+] glocucerebrosidase deficiency; kerasin thesaurismosis; lipoid histiocytosis (kerasin type); glucosylceramide beta-glucosidase deficiency; acid beta-glucosidase deficiency; Gaucher disease; [-]	A sphingolipidosis characterized by deficiency of ..[+] A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. [-]
Gaucher's disease perinatal lethal	Fetal Gaucher Disease; Gaucher Disease, Collodion .. [+] Fetal Gaucher Disease; Gaucher Disease, Collodion Type; [-]	A Gaucher's Disease characterized by perinatal let..[+] A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
Gaucher's disease type I	Gaucher Disease, Noncerebral Juvenile; Gba Deficie.. [+] Gaucher Disease, Noncerebral Juvenile; Gba Deficiency; GD I; Acid Beta-Glucosidase Deficiency; Glucocerebrosidase Deficiency; GD1; [-]	A Gaucher's disease characterized by absence of pr..[+] A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
Gaucher's disease type II	Infantile Cerebral Gaucher Disease; Gaucher Diseas.. [+] Infantile Cerebral Gaucher Disease; Gaucher Disease, Acute Neuronopathic Type; GD II; GD2; [-]	A Gaucher's disease characterized by rapid neurolo..[+] A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
Gaucher's disease type III	GD III; Gaucher Disease, Subacute Neuronopathic Ty.. [+] GD III; Gaucher Disease, Subacute Neuronopathic Type; Gaucher Disease, Juvenile And Adult, Cerebral; Gaucher Disease, Chronic Neuronopathic Type; [-]	A Gaucher's disease characterized by later onset a..[+] A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
Gaucher's disease type IIIC	cardiovascular Gaucher disease; Gaucher disease ty.. [+] cardiovascular Gaucher disease; Gaucher disease type 3C; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher-like disease; GD3C; [-]	A Gaucher's disease type III characterized by addi..[+] A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. [-]
Gerstmann syndrome	Aphasia-angular gyrus syndrome;	A nervous system disease that results_from damage ..[+] A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. [-]
Gerstmann-Straussler-Scheinker syndrome	Gerstmann-Straussler-Scheinker disease; PRION DEME.. [+] Gerstmann-Straussler-Scheinker disease; PRION DEMENTIA; [-]	A prion disease characterized by adult onset of me..[+] A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. [-]
Ghosal hematodiaphyseal syndrome	diaphyseal dysplasia-anemia syndrome; Ghosal hemat.. [+] diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia; Ghosal syndrome; [-]	A syndrome characterized by increased bone density..[+] A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. [-]
Gilbert syndrome	Constitutional hyperbilirubinemia; Gilbert's disea.. [+] Constitutional hyperbilirubinemia; Gilbert's disease; Gilbert-Meulengracht syndrome; Gilbert's syndrome; hereditary nonhemolytic jaundice; [-]	A bilirubin metabolic disorder that involves eleva..[+] A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. [-]
Gilles de la Tourette syndrome	Guinon's disease; motor-verbal tic disorder; Psych.. [+] Guinon's disease; motor-verbal tic disorder; Psychogenic tics; Tourette syndrome; [-]	A tic disorder that is characterized by multiple p..[+] A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. [-]	1 articles
Gillespie syndrome	aniridia-cerebellar ataxia-intellectual disability.. [+] aniridia-cerebellar ataxia-intellectual disability syndrome; GLSP; aniridia, cerebellar ataxia and mental deficiency; [-]	A syndrome characterized by iris hypoplasia, conge..[+] A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. [-]
Gitelman syndrome	HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, W.. [+] HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA; [-]	A renal tubular transport disease that is has_mate..[+] A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). [-]	5 articles
Glanzmann's thrombasthenia	BDPLT2; deficiency of platelet fibrinogen receptor.. [+] BDPLT2; deficiency of platelet fibrinogen receptor; Glycoprotein IIb/IIIa defect; thrombasthenia of Glanzmann and Naegeli; Thrombocytasthenia; deficiency of glycoprotein complex IIb-IIIa; platelet glycoprotein IIb-IIIa deficiency; deficiency of GP IIb-IIIa complex; Glanzmann thrombasthenia; platelet-type bleeding disorder 2; [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. [-]
Goldberg-Shprintzen syndrome	Goldberg-Shprintzen megacolon syndrome;	A syndrome characterized by intellectual disabilit..[+] A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. [-]
Goldenhar syndrome	Facio-auriculo-vertebral spectrum (disorder); Firs.. [+] Facio-auriculo-vertebral spectrum (disorder); First AND second branchial arch syndrome; First arch syndrome (disorder); HEMIFACIAL MICROSOMIA; Otomandibular dysostosis (disorder); OAV (oculoauriculovertebral) dysplasia; Facio-auriculo-vertebral spectrum; First arch syndrome; Otomandibular dysostosis; [-]	A syndrome that is characterized by incomplete dev..[+] A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. [-]	1 articles
Good syndrome	thymoma with hypogammaglobulinemia;	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. [-]
Goodpasture syndrome	anti-glomerular basement membrane disease; anti-GB.. [+] anti-glomerular basement membrane disease; anti-GBM disease; [-]	An autoimmune disease that is characterized by ant..[+] An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. [-]
Gordon Holmes syndrome	CAHH; LHRH deficiency and ataxia; cerebellar ataxi.. [+] CAHH; LHRH deficiency and ataxia; cerebellar ataxia-hypogonadism syndrome; GDHS; luteinizing hormone-releasing hormone deficiency with ataxia; [-]	An inherited metabolic disorder characterized by p..[+] An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. [-]
Gorham's disease	Disappearing bone disease (disorder); essential os.. [+] Disappearing bone disease (disorder); essential osteolysis; Gorham disease; massive osteolysis; Gorham-Stout Syndrome; phantom bone disease; Disappearing bone disease; [-]	A syndrome that is characterized by bone loss (ost..[+] A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. [-]
Graves ophthalmopathy	Graves orbitopathy; Thyroid associated ophthalmopa.. [+] Graves orbitopathy; Thyroid associated ophthalmopathy; thyroid eye disease; [-]	An autoimmune disease of eyes, ear, nose and throa..[+] An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. [-]
Graves' disease	Basedow's disease; Grave's disease; exophthalmic g.. [+] Basedow's disease; Grave's disease; exophthalmic goiter; Graves disease; [-]	An autoimmune disease of endocrine system that inv..[+] An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. [-]	1 articles
Greenberg dysplasia	autosomal recessive lethal chondrodystrophy with c.. [+] autosomal recessive lethal chondrodystrophy with congenital hydrops; GRBGD; Greenberg skeletal dysplasia; HEM dysplasia; hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type; hydrops, ectopic calcification, moth-eaten skeletal dysplasia; [-]	An inherited metabolic disorder characterized by a..[+] An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. [-]
Greig cephalopolysyndactyly syndrome	polysyndactyly with peculiars skull shape;	An acrocephalosyndactylia that has_material_basis_..[+] An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. [-]	2 articles
Griscelli syndrome	ChÃ©diak-Higashi-like syndrome; Griscelli-PruniÃ©r.. [+] ChÃ©diak-Higashi-like syndrome; Griscelli-PruniÃ©ras syndrome; Chediak-Higashi-like syndrome; Griscelli-Prunieras syndrome; partial albinism-immunodeficiency syndrome; [-]	An integumentary system disease characterized by s..[+] An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. [-]
Griscelli syndrome type 1	Griscelli syndrome, cutaneous and neurological typ.. [+] Griscelli syndrome, cutaneous and neurological type; Griscelli-PruniÃ©ras syndrome type 1; GS1; hypopigmentation-neurologic impairment syndrome; Griscelli syndrome with neurological impairment; Griscelli-Prunieras syndrome type 1; [-]	A Griscelli syndrome characterized by silvery gray..[+] A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. [-]
Griscelli syndrome type 2	Griscelli syndrome with hemophagocytic syndrome; G.. [+] Griscelli syndrome with hemophagocytic syndrome; Griscelli-PruniÃ©ras syndrome type 2; PAID syndrome; partial albinism and immunodeficiency syndrome; GS2; Griscelli-Prunieras syndrome type 2; hypopigmentation-immunodeficiency with or without neurologic impairment syndrome; [-]	A Griscelli syndrome characterized by silvery gray..[+] A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. [-]

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