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Disease Synonyms Description Articles Phenotypes
Coffin-Siris syndrome 3
autosomal dominant mental retardation 15; CSS3; MR.. [+]
A Coffin-Siris syndrome that has_material_basis_in..[+]
Coffin-Siris syndrome 4
autosomal dominant mental retardation 16; CSS4; MR.. [+]
An autosomal dominant non-syndromic intellectual d..[+]
Coffin-Siris syndrome 8
CSS8;
A Coffin-Siris syndrome characterized by variable ..[+]
Cogan syndrome
Cogan's syndrome; diffuse interstitual keratitis;
An eye disease characterized by nonsyphilitic inte..[+]
Cogan-Reese syndrome
An eye disease characterized by variable iris atro..[+]
Cole-Carpenter syndrome
An osteogenesis imperfecta characterized by cranio..[+]
Colorado tick fever
Tick fever, American mountain;
A viral infectious disease that results_in infecti..[+]
Compton-North congenital myopathy
congenital myopathy 12;
A congenital myopathy that has_material_basis_in h..[+]
Conn's syndrome
Conn syndrome; primary aldosteronism; primary hype.. [+]
An adrenal admenoma characterized by over producti..[+]
Cor pulmonale
cardiopulmonary disease; pulmonary heart disease;
A congestive heart failure that involves a failure..[+]
Cornelia de Lange syndrome
Brachmann de Lange syndrome; De Lange syndrome;
A genetic disease that is characterized by slow gr..[+]
Cornelia de Lange syndrome 1
A Cornelia de Lange syndrome that has_material_bas..[+]
Cornelia de Lange syndrome 3
CDLS3; Cornelia De Lange syndrome 3 with or withou.. [+]
A Cornelia de Lange syndrome that has_material_bas..[+]
Costello syndrome
Faciocutaneoskeletal Syndrome; FCS SYNDROME;
A syndrome characterized by craniofacial dysmorpho..[+]
Cowden disease
dysplastic Gangliocytoma of Cerebellum; Lhermitte-.. [+]
An autosomal dominant disease characterized by mul..[+]
Cowden syndrome 5
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; 5p partial monosomy syndrome.. [+]
n_a
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 disease; Crohn's disease of colon (disorder).. [+]
An intestinal disease that involves inflammation l..[+]
Cronkhite-Canada syndrome
gastric Cronkhite Canada polyposis;
n_a
Crouzon syndrome
Craniofacial Dysostosis; Crouzon's disease;
A craniosynostosis that involves premature fusion ..[+]
Crouzon syndrome-acanthosis nigricans syndrome
CAN; Crouzon-dermoskeletal syndrome; Crouzonodermo.. [+]
A syndrome characterized by Crouzon-like features,..[+]
Cryptococcal meningitis
A fungal meningitis that has_material_basis in Cry..[+]
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 2
D2HGA2;
A D-2-hydroxyglutaric aciduria that has_material_b..[+]
D-bifunctional protein deficiency
A peroxisomal disease characterized by, in severe ..[+]
DIC in newborn
Disseminated intravascular coagulation in newborn;.. [+]
n_a
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..[+]
Danon disease
ANTOPOL DISEASE; PSEUDOGLYCOGENOSIS II;
A lysosomal storage disease that is characterized ..[+]
De Quervain disease
Radial styloid tenosynovitis; Tenosynovitis, de Qu.. [+]
n_a
Dent disease
Dent disease 1; Dent disease 2; Dent's disease;
A renal tubular transport disease that is characte..[+]
Denys-Drash syndrome
An autosomal dominant disease that is characterize..[+]
Desbuquois dysplasia
Desbuquois syndrome; micromelic dwarfism with vert.. [+]
An osteochondrodysplasia characterized by short st..[+]
DiGeorge syndrome
DiGeorge sequence (disorder); DiGeorge's syndrome;.. [+]
A T cell deficiency disease that is the result of ..[+]
Diamond-Blackfan anemia
Blackfan - Diamond syndrome; chronic constitutiona.. [+]
A congenital hypoplastic anemia that is characteri..[+]
Diamond-Blackfan anemia 16
DBA16; RPL27-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 2
DBA2;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 20
DBA20; RPS15A-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 7
DBA7; RPL11-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-blackfan anemia 3
DBA3; RPS24-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Dieulafoy lesion
Dieulafoy lesion (hemorrhagic) of intestine; dieul.. [+]
n_a
Donnai-Barrow syndrome
DBS/FOAR syndrome; diaphragmatic hernia, exomphalo.. [+]
An autosomal recessive disease characterized by fa..[+]

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