Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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congenital lactase deficiency |
A carbohydrate metabolic disorder characterized by..[+]
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cerebellar ataxia type 41 |
SCA41
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An autosomal dominant cerebellar ataxia that has_m..[+]
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congenital nystagmus 2 |
congenital motor nystagmus 2; autosomal dominant c..
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A congenital nystagmus that has_material_basis_in ..[+]
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congenital nystagmus 5 |
NYS5; X-linked congenital nystagmus 5
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A congenital nystagmus that has_material_basis_in ..[+]
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CHILD syndrome |
congenital hemidysplasia with ichthyosiform nevus ..
[+]
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A syndrome characterized by congenital hemidysplas..[+]
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congenital nongoitrous hypothyroidism 9 |
CHNG9
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A congenital hypothyroidism characterized by a sma..[+]
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congenital nongoitrous hypothyroidism 8 |
CHNG8
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A congenital hypothyroidism characterized by relat..[+]
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CK syndrome |
X-linked intellectual disability-microcephaly-cort..
[+]
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A lipid metabolism disorder characterized by incre..[+]
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congenital megabladder |
MGBL
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A bladder disease characterized by a massively dil..[+]
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combined oxidative phosphorylation deficiency 50 |
COXPD50
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 45 |
COXPD45
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A combined oxidative phosphorylation deficiency th..[+]
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combined oxidative phosphorylation deficiency 42 |
COXPD42
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A combined oxidative phosphorylation deficiency th..[+]
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corpus callosum agenesis-abnormal genitalia syndrome |
corpus callosum agenesis with abnormal genitalia; ..
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A syndrome characterized by agenesis of the corpus..[+]
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congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
A syndrome characterized by congenital heart defec..[+]
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central precocious puberty |
CPP; gonadotropin-dependant precocious puberty
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An endocrine system disease characterized by early..[+]
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central precocious puberty 1 |
CPPB1
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A central precocious puberty that has_material_bas..[+]
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craniotubular dysplasia Ikegawa type |
CTDI
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A craniodiaphyseal dysplasia characterized by chil..[+]
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Coffin-Siris syndrome 8 |
CSS8
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A Coffin-Siris syndrome characterized by variable ..[+]
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Coffin-Siris syndrome 11 |
CSS11
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A Coffin-Siris syndrome characterized by global de..[+]
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aortic valve insufficiency |
Corrigan's disease; aortic incompetence; aortic in..
[+]
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An aortic valve disease that is characterized by l..[+]
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mitral valve disease |
chronic rheumatic mitral valve (disorder); disease..
[+]
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n_a
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degenerative disc disease |
cervical disc degenerative disease; intervertebral..
[+]
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A bone deterioration disease that has_material_bas..[+]
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heart cancer |
Cardiac tumor; malignant Cardiac tumor; malignant ..
[+]
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A cardiovascular cancer located_in the heart.
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bone cancer |
CA - bone cancer; bone neoplasm; bone tumour; mali..
[+]
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A connective tissue cancer that is located_in bone..[+]
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reproductive organ cancer |
cancer of reproductive system; malignant reproduct..
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An organ system cancer that is manifested in the r..[+]
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heel spur |
Calcaneal spur
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An exostosis that results_in an abnormal growth lo..[+]
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ascending colon cancer |
n_a
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hepatic flexure cancer |
n_a
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transverse colon cancer |
n_a
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lacrimal gland carcinoma |
carcinoma of the lacrimal gland
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n_a
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eye carcinoma |
carcinoma of eye; Ocular carcinoma
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An ocular cancer that has_material_basis_in abnorm..[+]
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mixed lacrimal gland cancer |
carcinoma Ex Pleomorphic adenoma of the lacrimal g..
[+]
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n_a
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pleomorphic adenoma carcinoma |
n_a
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uterine cancer |
CA - cancer of uterus; malignant neoplasm of uteru..
[+]
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A female reproductive organ cancer that is located..[+]
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restrictive cardiomyopathy |
Cardiomyopathy, constrictive; Familial restrictive..
[+]
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n_a
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primary hyperaldosteronism |
An adrenal gland hyperfunction disease that result..[+]
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angiokeratoma |
Cutaneous Angiokeratoma; Angiokeratoma (morphologi..
[+]
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n_a
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nerve compression syndrome |
Compression neuropathy; Entrapment Neuropathy; ent..
[+]
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n_a
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nephrolithiasis |
calculus of kidney and ureter; kidney stones; NEPH..
[+]
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n_a
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severe combined immunodeficiency |
combined T and B cell inborn immunodeficiency; SCI..
[+]
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A combined T cell and B cell immunodeficiency that..[+]
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urethra cancer |
cancer of urethra; malignant tumour of urethra; ma..
[+]
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An urinary tract cancer that derives_from the tiss..[+]
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situs inversus |
Complete transposition (morphologic abnormality); ..
[+]
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n_a
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periodontitis |
chronic pericementitis
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n_a
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Bartholin's duct cyst |
A female reproductive system disease that is chara..[+]
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Wilson disease |
Cerebral pseudosclerosis; hepatolenticular degener..
[+]
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n_a
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autosomal dominant polycystic kidney disease |
Congenital biliary ectasias; POLYCYSTIC KIDNEY AND..
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An autosomal dominant disease characterized by the..[+]
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Zellweger syndrome |
A peroxisomal biogenesis disorder that is characte..[+]
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alopecia areata |
Circumscribed alopecia
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A hypersensitivity reaction type II disease result..[+]
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Fanconi syndrome |
Congenital Fanconi syndrome (disorder); adult Fanc..
[+]
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A renal tubular transport disease of the proximal ..[+]
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primary open angle glaucoma |
chronic simple glaucoma
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n_a
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