Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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mucopolysaccharidosis IV |
deficiency of N-acetylgalactosamine-6-sulphatase; ..
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A mucopolysaccharidosis characterized by a deficie..[+]
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alcoholic cardiomyopathy |
Dilated cardiomyopathy secondary to alcohol (disor..
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n_a
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acute dacryocystitis |
Dacryocystitis - acute
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n_a
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tinea unguium |
A dermatophytosis that results_in fungal infection..[+]
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porphyria |
An inherited metabolic disorder that involves cert..[+]
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tinea profunda |
Deep seated dermatophytosis; Granuloma trichophyti..
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A tinea corporis that results_in fungal infection ..[+]
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tinea manuum |
Dermatophytosis of hand; Tinea manus
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A dermatophytosis that results_in fungal skin infe..[+]
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childhood disintegrative disease |
Disintegrative psychosis NOS (disorder); Heller's ..
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A pervasive developmental disorder that is a rare ..[+]
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secondary Parkinson disease |
disorder presenting primarily with parkinsonism; s..
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n_a
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optic disk drusen |
Drusen of optic disc; optic nerve head drusen
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n_a
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alveolar periostitis |
n_a
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patent foramen ovale |
Defect, Patent or persistent, ostium secundum; Atr..
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n_a
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anodontia |
Developmental absence of tooth; Complete absence o..
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n_a
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hypoglossal nerve disease |
n_a
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lymphogranuloma venereum |
Durand-Nicolas-Favre disease; Climatic or tropical..
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A commensal bacterial infectious disease that resu..[+]
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patent ductus arteriosus |
ductus arteriosus, Patent; Patent ductus Botalli
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n_a
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trochlear nerve disease |
disorder of trochlear nerve; Superior oblique musc..
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n_a
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red-green color blindness |
n_a
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root caries |
Dental caries of root surface; Cementum caries; Ro..
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n_a
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hypophosphatasia |
deficiency of alkaline phosphatase (disorder) [Amb..
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n_a
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abdominal obesity-metabolic syndrome 1 |
dysmetabolic syndrome X; abdominal obesity-metabol..
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An abdominal obesity-metabolic syndrome characteri..[+]
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vulvar dystrophy |
Dystrophy of vulva
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A vulvar disease that is characterized as irregula..[+]
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systemic primary carnitine deficiency disease |
deficiency of plasma-membrane carnitine transporte..
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An amino acid metabolic disorder that involves def..[+]
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Fabry disease |
deficiency of melibiase; alpha galactosidase defic..
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n_a
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argininosuccinic aciduria |
deficiency of argininosuccinate lyase (disorder); ..
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An amino acid metabolic disorder that involves the..[+]
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Larsen syndrome |
dominant larsen syndrome
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An autosomal dominant disease that is characterize..[+]
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olivopontocerebellar atrophy |
Dejerine-Thomas syndrome; Thomas' syndrome; WADIA-..
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A neurodegenerative disease that is characterized ..[+]
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tinea barbae |
dermatophytosis of beard
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A dermatophytosis that results_in fungal infection..[+]
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nonepidermolytic palmoplantar keratoderma |
diffuse nonepidermolytic palmomplantar keratoderma..
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A palmoplantar keratosis characterized by a well-d..[+]
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familial partial lipodystrophy |
Dunnigan Syndrome; Koberling-Dunnigan Syndrome
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A lipodystrophy characterized by abnormal subcutan..[+]
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Brugada syndrome |
Dream disease; Bangungut; Brugada type idiopathic ..
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A heart conduction disease that is characterized b..[+]
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Buruli ulcer disease |
Daintree ulcer; Bairnsdale ulcer; Mossman ulcer; S..
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A primary bacterial infectious disease that result..[+]
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Sertoli cell-only syndrome |
DEL CASTILLO SYNDROME; Germinal Cell Aplasia
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n_a
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Charcot-Marie-Tooth disease type 3 |
A Charcot-Marie-Tooth disease that is characterize..[+]
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congenital disorder of glycosylation type I |
A congenital disorder of glycosylation involve dis..[+]
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Qazi Markouizos syndrome |
Dysharmonic skeletal maturation - muscular fibre d..
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A syndrome that is characterized by hypotonia, con..[+]
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fibular hypoplasia and complex brachydactyly |
Du Pan syndrome
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An autosomal recessive disease that is characteris..[+]
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Ehlers-Danlos syndrome spondylodysplastic type 2 |
defective biosynthesis of proteodermatan sulfate; ..
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An Ehlers-Danlos syndrome that is characterized by..[+]
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tricuspid valve disease |
disease of tricuspid valve; RH. tricuspid valve di..
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A heart valve disease that is characterized by val..[+]
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generalized dystonia |
A dystonia that affects most or all of the body.
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reticular dysgenesis |
De Vaal disease; aleukocytosis
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A severe combined immunodeficiency that is the mos..[+]
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body dysmorphic disorder |
A somatoform disorder that involves an excessive c..[+]
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amyotrophic lateral sclerosis type 4 |
distal hereditary motor neuropathy with upper moto..
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An amyotrophic lateral sclerosis with juvenile ons..[+]
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Cogan syndrome |
diffuse interstitual keratitis; Cogan's syndrome
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An eye disease characterized by nonsyphilitic inte..[+]
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3-M syndrome |
dolichospondylic dysplasia; gloomy face syndrome; ..
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A syndrome characterized by dwarfism, facial dysmo..[+]
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Simpson-Golabi-Behmel syndrome type 1 |
DGSX Golabi-Rosen syndrome; bulldog syndrome; Gola..
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A syndrome characterized by pre- and postnatal ove..[+]
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ptosis |
drooping eyelid; blepharoptosis
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An eye disease characterized by the drooping or fa..[+]
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agnathia-otocephaly complex |
dysgnathia complex agnathia-holoprosencephaly; agn..
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A physical disorder characterized by mandibular hy..[+]
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chromosome 13q14 deletion syndrome |
deletion 13q14
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n_a
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chromosome 15q26-qter deletion syndrome |
n_a
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