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Disease Synonyms Description Articles Phenotypes
Gaucher's disease
glocucerebrosidase deficiency; kerasin thesaurismo.. [+]
A sphingolipidosis characterized by deficiency of ..[+]
Gaucher's disease perinatal lethal
Fetal Gaucher Disease; Gaucher Disease, Collodion .. [+]
A Gaucher's Disease characterized by perinatal let..[+]
Gaucher's disease type I
Gaucher Disease, Noncerebral Juvenile; Gba Deficie.. [+]
A Gaucher's disease characterized by absence of pr..[+]
Gaucher's disease type II
Infantile Cerebral Gaucher Disease; Gaucher Diseas.. [+]
A Gaucher's disease characterized by rapid neurolo..[+]
Gaucher's disease type III
GD III; Gaucher Disease, Subacute Neuronopathic Ty.. [+]
A Gaucher's disease characterized by later onset a..[+]
Gaucher's disease type IIIC
cardiovascular Gaucher disease; Gaucher disease ty.. [+]
A Gaucher's disease type III characterized by addi..[+]
Gerstmann syndrome
Aphasia-angular gyrus syndrome;
A nervous system disease that results_from damage ..[+]
Gerstmann-Straussler-Scheinker syndrome
Gerstmann-Straussler-Scheinker disease; PRION DEME.. [+]
A prion disease characterized by adult onset of me..[+]
Ghosal hematodiaphyseal syndrome
diaphyseal dysplasia-anemia syndrome; Ghosal hemat.. [+]
A syndrome characterized by increased bone density..[+]
Gilbert syndrome
Constitutional hyperbilirubinemia; Gilbert's disea.. [+]
A bilirubin metabolic disorder that involves eleva..[+]
Gilles de la Tourette syndrome
Guinon's disease; motor-verbal tic disorder; Psych.. [+]
A tic disorder that is characterized by multiple p..[+]
1 articles
Gillespie syndrome
aniridia-cerebellar ataxia-intellectual disability.. [+]
A syndrome characterized by iris hypoplasia, conge..[+]
Gitelman syndrome
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, W.. [+]
A renal tubular transport disease that is has_mate..[+]
5 articles
Glanzmann's thrombasthenia
BDPLT2; deficiency of platelet fibrinogen receptor.. [+]
A blood coagulation disease characterized by autos..[+]
Goldberg-Shprintzen syndrome
Goldberg-Shprintzen megacolon syndrome;
A syndrome characterized by intellectual disabilit..[+]
Goldenhar syndrome
Facio-auriculo-vertebral spectrum (disorder); Firs.. [+]
A syndrome that is characterized by incomplete dev..[+]
1 articles
Good syndrome
thymoma with hypogammaglobulinemia;
A combined T cell and B cell immunodeficiency that..[+]
Goodpasture syndrome
anti-glomerular basement membrane disease; anti-GB.. [+]
An autoimmune disease that is characterized by ant..[+]
Gordon Holmes syndrome
CAHH; LHRH deficiency and ataxia; cerebellar ataxi.. [+]
An inherited metabolic disorder characterized by p..[+]
Gorham's disease
Disappearing bone disease (disorder); essential os.. [+]
A syndrome that is characterized by bone loss (ost..[+]
Graves ophthalmopathy
Graves orbitopathy; Thyroid associated ophthalmopa.. [+]
An autoimmune disease of eyes, ear, nose and throa..[+]
Graves' disease
Basedow's disease; Grave's disease; exophthalmic g.. [+]
An autoimmune disease of endocrine system that inv..[+]
1 articles
Greenberg dysplasia
autosomal recessive lethal chondrodystrophy with c.. [+]
An inherited metabolic disorder characterized by a..[+]
Greig cephalopolysyndactyly syndrome
polysyndactyly with peculiars skull shape;
An acrocephalosyndactylia that has_material_basis_..[+]
2 articles
Griscelli syndrome
Chédiak-Higashi-like syndrome; Griscelli-Pruniér.. [+]
An integumentary system disease characterized by s..[+]
Griscelli syndrome type 1
Griscelli syndrome, cutaneous and neurological typ.. [+]
A Griscelli syndrome characterized by silvery gray..[+]
Griscelli syndrome type 2
Griscelli syndrome with hemophagocytic syndrome; G.. [+]
A Griscelli syndrome characterized by silvery gray..[+]
Griscelli syndrome type 3
Griscelli-Pruniéras syndrome type 3; GS3; Griscel.. [+]
A Griscelli syndrome characterized by isolated sil..[+]
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
A frontotemporal dementia characterized by variabl..[+]
Guillain-Barre syndrome
acute infective polyneuritis; Infectious neuroniti.. [+]
An autoimmune disease of peripheral nervous system..[+]
Guttmacher syndrome
autosomal dominant preaxial deficiency, postaxial .. [+]
A syndrome characterized by preaxial deficiencies ..[+]
HCL-V
Hairy cell leukemia variant (disorder); Hairy cell.. [+]
n_a
HELLP syndrome
A severe pre-eclampsia characterized by hemolysis,..[+]
HMG-CoA synthase 2 deficiency
3-hydroxy-3-methylglutaryl-CoA synthase-2 deficien.. [+]
An amino acid metabolic disorder that is character..[+]
HRPT-related hyperuricemia
HPRT deficiency, grade I; HPRT partial deficiency;.. [+]
A hyperuricemia characterized by excessive purine ..[+]
Hailey-Hailey disease
Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIG.. [+]
A pemphigus that is characterized by recurring bli..[+]
Hajdu-Cheney syndrome
arthrodentoosteodysplasia; HJCYS; serpentine fibul.. [+]
A bone disease characterized by short stature, coa..[+]
Hallermann-Streiff syndrome
Hallerman - Streiff syndrome; Hallermann's syndrom.. [+]
A syndrome that affects growth, cranial developmen..[+]
Halperin-Birk syndrome
HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH S.. [+]
A syndrome characterized by structural brain defec..[+]
Hantavirus hemorrhagic fever with renal syndrome
Hemorrhagic fever, Russian; Hemorrhagic nephrosone.. [+]
A viral infectious disease that is a hemorrhagic f..[+]
Harel-Yoon syndrome
Ocular anomalies-axonal neuropathy-developmental d.. [+]
A syndrome that is characterized by delayed psycho..[+]
Hartnup disease
deficiency of tryptophan oxygenase; neutral amino .. [+]
An amino acid metabolic disorder that is caused by..[+]
Haverhill fever
Streptobacillary fever; Streptobacillary rat-bite .. [+]
A primary bacterial infectious disease that result..[+]
Heimler syndrome 1
Deafness-enamel hypoplasia-nail defects syndrome; .. [+]
A peroxisomal biogenesis disorder that is characte..[+]
Heimler syndrome 2
peroxisomal biogenesis disorder 4C;
A peroxisomal biogenesis disorder that is characte..[+]
Heinz body anemia
A congenital nonspherocytic hemolytic anemia chara..[+]
Helsmoortel-Van Der Aa Syndrome
autosomal dominant mental retardation 28; HVDAS; M.. [+]
An autosomal dominant intellectual developmental d..[+]
Hengel-Maroofian-Schols syndrome
A syndrome characterized by infant or early childh..[+]
Hennekam syndrome
lymphedem-lymphangiectasia-intellectual disability.. [+]
A lymphatic system disease characterized by he pre..[+]
Henoch-Schoenlein purpura
Allergic purpura; Henoch-Sch?nlein purpura; Henoch.. [+]
A hypersensitivity vasculitis that is characterize..[+]

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