Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Renpenning syndrome |
Sutherland-Haan X-linked mental retardation syndro..
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An intellectual disability that is characterized b..[+]
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1 articles | 18 matches |
Rett syndrome |
Rett's disorder; cerebroatrophic hyperammonemia;
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A pervasive developmental disease that is characte..[+]
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4 articles | |
Revesz syndrome |
DKCA5; Dyskeratosis Congenita, Autosomal Dominant ..
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A dyskeratosis congenita that has_material_basis_i..[+]
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Reye syndrome |
Reye's syndrome;
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A syndrome characterized by acute brain damage and..[+]
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Rh deficiency syndrome |
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n_a
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Rh isoimmunization |
Rh incompatibility affecting management of mother;..
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n_a
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Richter's syndrome |
Richter syndrome;
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n_a
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Rickettsia parkeri spotted fever |
maculatum infection;
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A spotted fever that has_material_basis_in Rickett..[+]
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Riedel's fibrosing thyroiditis |
Riedel fibrosing thyroiditis;
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n_a
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Rift Valley fever |
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A viral infectious disease that results_in infecti..[+]
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Riley-Day syndrome |
familial dysautonomia; HSAN III; familial autonomi..
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A hereditary sensory neuropathy that is characteri..[+]
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Ritscher-Schinzel syndrome |
3C syndrome; craniocerebellocardiac dysplasia; CCC..
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A syndrome characterized by craniofacial (prominen..[+]
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Ritscher-Schinzel syndrome 1 |
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A Ritscher-Schinzel syndrome that has_material_bas..[+]
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Ritscher-Schinzel syndrome 2 |
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A Ritscher-Schinzel syndrome that has_material_bas..[+]
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Ritter's disease |
Dermatitis exfoliativa neonatorum; Ritter disease;..
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A commensal bacterial infectious disease that is c..[+]
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Roberts syndrome |
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-P..
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A syndrome characterized by tetraphocomelia, crani..[+]
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Robinow syndrome |
acral dysostosis with facial and genital abnormali..
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A syndrome characterized by mild to moderate short..[+]
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1 articles | |
Rocky Mountain spotted fever |
Brazillian spotted; Choix; Exanthematic typhus of ..
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A spotted fever that has_material_basis_in Rickett..[+]
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Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
EPRPDC; RE-PED-WC; Rolandic-type focal motor epile..
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An infancy electroclinical syndrome characterized ..[+]
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Ross River fever |
Ross River virus disease;
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A viral infectious disease that results_in infecti..[+]
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Rothmund-Thomson syndrome |
Congenital poikiloderma; Rothmund-Thomson syndrome..
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A skin disease characterized by poikiloderma, cong..[+]
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2 articles | |
Rubinstein-Taybi syndrome |
Broad Thumb-Hallux syndrome; Rubinstein syndrome; ..
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A syndrome characterized by short stature, moderat..[+]
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Ruijs-Aalfs syndrome |
progeroid features-hepatocellular carcinoma predis..
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A syndrome characterized by genomic instability an..[+]
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SADDAN |
severe achondroplasia with developmental delay and..
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A syndrome characterized by severe achondroplasia,..[+]
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SAPHO syndrome |
Synovitis, acne, pustulosis palmaris, hyperostosis..
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A syndrome characterized by synovitis, acne, pustu..[+]
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SATB2-associated syndrome |
2q32-q33 microdeletion syndrome; 2q32q33 microdele..
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A syndrome that has_material_basis_in genetic chan..[+]
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SHORT syndrome |
Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger a..
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A syndrome of multiple anomalies whose name stands..[+]
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SHOX-related short stature |
idiopathic familial short stature;
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A bone development disease characterized by height..[+]
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SM-AHNMD |
systemic mastocytosis with associated clonal haema..
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n_a
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SMARCB1-deficient renal medullary carcinoma |
kidney medullary carcinoma; medullary carcinoma of..
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A renal cell carcinoma that develops in the renal ..[+]
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SOST-related sclerosing bone dysplasia |
van Buchem disease;
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A hyperostosis that has_material_basis_in a mutati..[+]
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SPOAN syndrome |
spastic paraplegia, optic atropy, and neuropathy; ..
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A neurodegenerative disease characterized by spast..[+]
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ST2 diffuse large B-cell lymphoma |
ST2 DLBCL;
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A diffuse large B-cell lymphoma that is categorize..[+]
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STING-associated vasculopathy with onset in infancy |
SAVI;
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An autoimmune disease of the cardiovascular system..[+]
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Sabinas brittle hair syndrome |
brittle hair-mental deficiency syndrome; trichothi..
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A nonphotosensitive trichothiodystrophy characteri..[+]
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Saethre-Chotzen syndrome |
acrocephalosyndactyly type III;
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An acrocephalosyndactylia that has_material_basis_..[+]
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Sakati-Nyhan syndrome |
ACPS with leg hypoplasia; acrocephalopolysyndactyl..
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An acrocephalosyndactylia characterized by abnorma..[+]
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Saldino-Noonan syndrome |
type I short rib polydactyly syndrome;
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n_a
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Sandestig-Stefanova syndrome |
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A syndrome that is characterized by microcephaly, ..[+]
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Sandhoff disease |
Sandhoff Jatzkewitz disease;
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A GM2 gangliosidosis that is characterized by an a..[+]
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Saul-Wilson syndrome |
microcephalic osteodysplastic dysplasia, Saul-Wils..
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A bone development disease characterized by early ..[+]
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Schaaf-Yang syndrome |
MAGEL2-related Prader-Willi-like syndrome; MAGEL2-..
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A syndrome characterized by delayed psychomotor de..[+]
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Scheie syndrome |
mucopolysaccharidosis type 1S; mucopolysaccharidos..
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A mucopolysaccharidosis characterized by corneal c..[+]
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Scheuermann's disease |
Juvenile osteochondritis of the spine; Juvenile os..
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An osteochondrosis that results_in abnormal bone g..[+]
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Schimke immuno-osseous dysplasia |
immunoosseous dysplasia Schimke type; Schimke synd..
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A spondyloepiphyseal dysplasia characterized by sh..[+]
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Schindler disease |
alpha-N-acetylgalactosaminidase deficiency; NAGA d..
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A lysosomal storage disease that has_material_basi..[+]
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Schindler disease type 1 |
alpha-N-acetylgalactosaminidase deficiency type 1;..
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A Schindler disease characterized by infantile ons..[+]
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Schindler disease type 3 |
alpha-N-acetylgalactosaminidase deficiency type 3;..
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A Schindler disease characterized by mild to moder..[+]
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Schinzel Giedion syndrome |
Schinzel-Giedion midface retraction syndrome; SGS;..
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An ectodermal dysplasia characterized by distincti..[+]
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Schinzel type phocomelia |
AARRS; absence of ulna and fibula with severe limb..
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A syndrome characterized by severe malformations o..[+]
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