Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Cornelia de Lange syndrome 3 |
CDLS3; Cornelia De Lange syndrome 3 with or withou..
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A Cornelia de Lange syndrome that has_material_bas..[+]
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Cornelia de Lange syndrome 4 |
CDLS4; Cornelia De Lange syndrome 4 with or withou..
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A Cornelia de Lange syndrome that has_material_bas..[+]
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Cornelia de Lange syndrome 5 |
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A Cornelia de Lange syndrome that has_material_bas..[+]
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Cornelia de Lange syndrome 6 |
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A Cornelia de Lange syndrome characterized by malf..[+]
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Coronavirus infectious disease |
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A viral infectious disease that has_material_basis..[+]
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2 articles | |
Costello syndrome |
Faciocutaneoskeletal Syndrome; FCS SYNDROME;
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A RASopathy characterized by craniofacial dysmorph..[+]
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1 articles | |
Cowden syndrome |
Lhermitte-Duclos disease (disorder); multiple hama..
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A PTEN hamartoma tumor syndrome that is characteri..[+]
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Cowden syndrome 4 |
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A Cowden syndrome that has_material_basis_in heter..[+]
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Cowden syndrome 5 |
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A Cowden syndrome that has_material_basis_in heter..[+]
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Cowden syndrome 6 |
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A Cowden syndrome that has_material_basis_in heter..[+]
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Cowden syndrome 7 |
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A Cowden syndrome that has_material_basis_in heter..[+]
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Cowper gland carcinoma |
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A male reproductive organ cancer that has_material..[+]
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Creutzfeldt-Jakob disease |
CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob..
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n_a
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Cri-Du-Chat syndrome |
5p deletion syndrome; Cri-du-chat syndrome; 5p par..
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A syndrome that has_material_basis_in deletion of ..[+]
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Crigler-Najjar syndrome |
Bilirubin UDP glucuronyl transferase deficiency; C..
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A bilirubin metabolic disorder that involves a bui..[+]
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Crimean-Congo hemorrhagic fever |
CHF Congo virus; Congo-Crimean Hemorrhagic Fever; ..
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A viral infectious disease that is a hemorrhagic f..[+]
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Crohn's colitis |
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An inflammatory bowel disease characterized by inf..[+]
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Crohn's disease |
Crohn's disease of colon (disorder); Crohn's disea..
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An intestinal disease that involves inflammation l..[+]
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1 articles | |
Cronkhite-Canada syndrome |
gastric Cronkhite Canada polyposis; polyposis, ski..
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A stomach disease characterized by gastrointestina..[+]
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Crouzon syndrome |
Crouzon's disease; Craniofacial Dysostosis;
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A craniosynostosis that involves premature fusion ..[+]
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Crouzon syndrome-acanthosis nigricans syndrome |
CAN; Crouzonodermoskeletal syndrome; Crouzon-dermo..
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A syndrome characterized by Crouzon-like features,..[+]
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Cryptococcal meningitis |
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A fungal meningitis that has_material_basis_in Cry..[+]
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Culler-Jones syndrome |
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A syndrome that is characterized by hypopituitaris..[+]
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Currarino syndrome |
Currarino triad;
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A syndrome characterized by anorectal malformation..[+]
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Cytomegalovirus retinitis |
CMV retinitis;
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A retinitis that has_material_basis_in Cytomegalov..[+]
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D-2-hydroxyglutaric aciduria |
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An 2-hydroxyglutaric aciduria that involves develo..[+]
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D-2-hydroxyglutaric aciduria 1 |
D2HGA1;
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A D-2-hydroxyglutaric aciduria that has_material_b..[+]
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D-2-hydroxyglutaric aciduria 2 |
D2HGA2;
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A D-2-hydroxyglutaric aciduria that has_material_b..[+]
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D-bifunctional protein deficiency |
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A peroxisomal disease characterized by, in severe ..[+]
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D-glyceric aciduria |
D-glycerate kinase deficiency; D-glyceric acidemia..
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An inherited metabolic disorder characterized by i..[+]
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D-mannitol allergy |
mannitol allergy;
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A drug allergy that has_allergic_trigger D-mannito..[+]
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DIC in newborn |
Disseminated intravascular coagulation in newborn;..
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n_a
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DICER1 syndrome |
Pleuro-pulmonary blastoma familial tumor susceptib..
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A syndrome that is characterized by an increased r..[+]
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DNA ligase IV deficiency |
LIG4 Syndrome;
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A combined T cell and B cell immunodeficiency that..[+]
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DOORS syndrome |
autosomal recessive deafness-onychodystrophy syndr..
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A syndrome characterized by sensorineural deafness..[+]
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Dandy-Walker syndrome |
Atresia of foramina of Magendie and Luschka;
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A cerebellar disease that is characterized by hypo..[+]
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1 articles | |
Danon disease |
ANTOPOL DISEASE; PSEUDOGLYCOGENOSIS II;
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A lysosomal storage disease that is characterized ..[+]
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De Quervain disease |
Radial styloid tenosynovitis; Tenosynovitis, de Qu..
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n_a
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De Sanctis-Cacchione syndrome |
xeroderma pigmentosum with neurologic manifestatio..
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A xeroderma pigmentosum characterized by xeroderma..[+]
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DeSanto-Shinawi syndrome |
Chromosome 10p12-p11 deletion syndrome; Facial dys..
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A syndrome that is characterized by global develop..[+]
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Dent disease |
Dent disease 1; Dent disease 2; Dent's disease; X-..
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A renal tubular transport disease that is characte..[+]
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6 articles | |
Dent disease 1 |
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A Dent disease that is characterized by manifestat..[+]
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Dent disease 2 |
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A Dent disease that is characterized by low molecu..[+]
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Denys-Drash syndrome |
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A syndrome that is characterized by the associatio..[+]
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Desbuquois dysplasia |
micromelic dwarfism with vertebral and metaphyseal..
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An osteochondrodysplasia characterized by short st..[+]
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DiGeorge syndrome |
DiGeorge sequence (disorder); DiGeorge sequence; D..
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A syndrome that has_material_basis_in a large dele..[+]
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8 articles | |
Diamond-Blackfan anemia |
Blackfan - Diamond syndrome; chronic constitutiona..
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A pure red-cell aplasia that is characterized by a..[+]
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4 articles | |
Diamond-Blackfan anemia 1 |
DBA1; RPS19-related Diamond-Blackfan anemia;
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 10 |
DBA10; RPS26-related Diamond-Blackfan anemia;
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 11 |
RPL26-related Diamond-Blackfan anemia; DBA11;
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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