Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Chapare hemorrhagic fever |
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A viral infectious disease that is a hemorrhagic f..[+]
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coenurosis |
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A parasitic helminthiasis infectious disease that ..[+]
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conidiobolomycosis |
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An subcutaneous mycosis that is a chronic inflamma..[+]
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congenital hypothyroidism |
cretinism
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A hypothyroidism that is present at birth.
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commensal bacterial infectious disease |
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A bacterial infectious disease that results_in inf..[+]
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Carrion's disease |
Carrion disease; Oroya fever
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A bartonellosis that results_in infection located_..[+]
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complement factor I deficiency |
n_a
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campomelic dysplasia |
Acampomelic Campomelic Dysplasia
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An osteochondrodysplasia that has_material_basis_i..[+]
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Costello syndrome |
Faciocutaneoskeletal Syndrome; FCS SYNDROME
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A syndrome characterized by craniofacial dysmorpho..[+]
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Carney complex |
A syndrome characterized by myxomas, spotty pigmen..[+]
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congenital stationary night blindness |
congenital essential nyctalopia
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A hereditary night blindness that is characterized..[+]
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Charcot-Marie-Tooth disease type 1 |
hereditary motor and sensory neuropathy type 1
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A Charcot-Marie-Tooth disease characterized by dem..[+]
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Charcot-Marie-Tooth disease type 2 |
hereditary motor and sensory neuropathy Guadalajar..
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A Charcot-Marie-Tooth disease characterized by abn..[+]
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Charcot-Marie-Tooth disease type 3 |
DEJERINE-SOTTAS NEUROPATHY; DEJERINE-SOTTAS SYNDRO..
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A Charcot-Marie-Tooth disease that is characterize..[+]
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Charcot-Marie-Tooth disease type 4 |
hereditary motor and sensory neuropathy
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A Charcot-Marie-Tooth disease characterized by dem..[+]
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Charcot-Marie-Tooth disease type X |
COWCK; Cowchock syndrome
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A Charcot-Marie-Tooth disease that has_material_ba..[+]
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Charcot-Marie-Tooth disease intermediate type |
Charcot-Marie-Tooth disease recessive intermediate..
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A Charcot-Marie-Tooth disease characterized by mot..[+]
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congenital adrenal insufficiency |
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX ..
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n_a
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congenital muscular dystrophy |
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A muscular dystrophy that is characterized by dimi..[+]
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congenital disorder of glycosylation type I |
ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG12-CDG (..
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A congenital disorder of glycosylation involve dis..[+]
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congenital disorder of glycosylation type II |
B4GALT1-CDG (CDG-2d); MGAT2-CDG (CDG-2a); MOGS-CDG..
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A congenital disorder of glycosylation that involv..[+]
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cone-rod dystrophy |
cone-rod retinal dystrophy
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A retinal degeneration that characterized by progr..[+]
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congenital generalized lipodystrophy |
Beradinelli-Seip syndrome
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n_a
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congenital bile acid synthesis defect |
cholestasis with delta(4)-3-oxosteroid-5-beta-redu..
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A steroid inherited metabolic disorder characteriz..[+]
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cell type cancer |
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A cancer that is classified by the type of cell fr..[+]
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chorioamnionitis |
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A placenta disease that is an inflammation of the ..[+]
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cardiomyopathy |
Cardiomyopathies
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A heart disease and a myopathy that is characteriz..[+]
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childhood electroclinical syndrome |
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An electroclinical syndrome with onset in childhoo..[+]
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cerebral folate receptor alpha deficiency |
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A vitamin metabolic disorder that has_material_bas..[+]
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coenzyme Q10 deficiency disease |
COENZYME Q10 DEFICIENCY, PRIMARY
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A mitochondrial metabolism disease that is charact..[+]
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congenital intrinsic factor deficiency |
hereditary intrinsic factor deficiency
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A vitamin B12 deficiency that is characterized by ..[+]
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cerebellar ataxia |
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A hereditary ataxia that is characterized by ataxi..[+]
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chorea-acanthocytosis |
choreoacanthocytosis; Levine-Critchley syndrome
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A neuroacanthocytosis that has_material_basis_in h..[+]
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cone dystrophy |
retinal cone dystrophy
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A retinal disease that is characterized by the los..[+]
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cerebral creatine deficiency syndrome |
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n_a
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creatine transporter deficiency |
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; SLC6A8 de..
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n_a
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congenital adrenal hyperplasia |
congenital lipoid adrenal hyperplasia; adrenal hyp..
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A steroid inherited metabolic disorder that is cha..[+]
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CHARGE syndrome |
CHARGE association
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A syndrome that is acterized by a pattern of conge..[+]
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cervical dystonia |
spasmodic torticollis
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A focal dystonia that is characterized by simultan..[+]
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cranio-facial dystonia |
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A focal dystonia that is characterized as dystonia..[+]
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chronic venous insufficiency |
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n_a
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colorectal adenoma |
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An intestinal benign neoplasm that has_material_ba..[+]
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colorectal adenocarcinoma |
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A colorectal carcinoma that derives_from epithelia..[+]
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Caroli disease |
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A bile duct disease that is characterized by abnor..[+]
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corpus callosum oligodendroglioma |
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A brain oligodendroglioma located_in the corpus ca..[+]
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conjunctival nevus |
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A sensory organ benign neoplasm that is located in..[+]
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cecum adenoma |
caecum adenoma
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A cecal benign neoplasm that has_material_basis_in..[+]
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colon adenoma |
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A colonic benign neoplasm that has_material_basis_..[+]
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cervical neuroblastoma |
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An extracranial neuroblastoma that has_material_ba..[+]
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Charlevoix-Saguenay spastic ataxia |
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n_a
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