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

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