Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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atrial fibrillation |
AFib; A-fib
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A heart conduction disease that is characterized b..[+]
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acrofrontofacionasal dysostosis |
AFFN dysostosis; Richieri-Costa-Colletto syndrome; ..
[+]
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A dysostosis characterized by intellectual disabil..[+]
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Adams-Oliver syndrome |
Adams Oliver syndrome
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A syndrome characterized by defects of the scalp (..[+]
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autosomal dominant chondrodysplasia punctata |
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n_a
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autosomal dominant intellectual developmental disorder |
autosomal dominant non-syndromic mental retardatio..
[+]
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A intellectual disability characterized by an auto..[+]
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autosomal recessive non-syndromic intellectual disability |
autosomal recessive non-syndromic mental retardati..
[+]
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A non-syndromic intellectual disability characteri..[+]
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adenoid hypertrophy |
adenoidal hypertrophy; enlarged adenoids
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An upper respiratory tract disease characterized b..[+]
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angular cheilitis |
A cheilitis characterized by inflammation of one o..[+]
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acute promyelocytic leukemia |
An acute myeloid leukemia characterized by accumul..[+]
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anal fistula |
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An anus disease characterized by is an abnormal co..[+]
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autosomal dominant sideroblastic anemia |
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A sideroblastic anemia characterized by an autosom..[+]
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agnathia-otocephaly complex |
agnathia-holoprosencephaly-situs inversus syndrome..
[+]
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A physical disorder characterized by mandibular hy..[+]
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acromelic frontonasal dysostosis |
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A dysostosis characterized by cranium bifidum, sev..[+]
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acrodermatitis chronica atrophicans |
Herxheimer disease; primary diffuse atrophy
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An acrodermatitis characterized by a chronically p..[+]
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acrorenal syndrome |
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A syndrome characterized by limb defects, usually ..[+]
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adenine phosphoribosyltransferase deficiency |
APRT deficiency; 2,8-dihydroxyadenine urolithiasis..
[+]
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An amino acid metabolic disorder characterized by ..[+]
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acrofacial dysostosis Cincinnati type |
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An acrofacial dysostosis characterized by a spectr..[+]
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amyotrophic lateral sclerosis type 22 |
An amyotrophic lateral sclerosis that has_material..[+]
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autosomal dominant Parkinson disease 1 |
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A Parkinson's disease that has_material_basis_in m..[+]
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autosomal recessive early-onset Parkinson disease 6 |
early-onset Parkinson disease 6
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A Parkinson's disease that has_material_basis_in m..[+]
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autosomal dominant Parkinson disease 8 |
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A Parkinson's disease that has_material_basis_in h..[+]
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autosomal recessive early-onset Parkinson disease 15 |
pallidopyramidal syndrome; Parkinsonian-pyramidal ..
[+]
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A Parkinson's disease that has_material_basis_in m..[+]
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acrofacial dysostosis |
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n_a
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acrofacial dysostosis Rodriguez type |
acrofacial dysostosis, syndrome of Rodriguez
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n_a
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acrofacial dysostosis, Catania type |
Opitz Mollica Sorge syndrome; Opitz-Caltabiano syn..
[+]
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n_a
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acrofacial dysostosis, Patagonia type |
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n_a
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autoimmune neuropathy |
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An autoimmune disease of centreal nervous system c..[+]
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apple allergy |
Malus domestica fruit allergy
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A fruit allergy triggered by Malus domestica plant..[+]
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apricot allergy |
Prunus armeniaca fruit allergy
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A fruit allergy triggered by Prunus armeniaca plan..[+]
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Atlantic cod allergy |
Gadus morhua fish allergy
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A fish allergy triggered by Gadus morhua.
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Atlantic salmon allergy |
Salmo salar fish allergy
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A fish allergy triggered by Salmo salar.
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ablepharon macrostomia syndrome |
poikiloderma with neutropenia, Clericuzio type
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A syndrome characterized by ablepharon, macrostomi..[+]
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ataxia with oculomotor apraxia type 3 |
ataxia-oculomotor apraxia 3
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n_a
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anomalous left coronary artery from the pulmonary artery |
ALCAPA; Bland-White-Garland syndrome; White-Garlan..
[+]
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A coronary artery anomaly in which the left corona..[+]
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atypical chronic myeloid leukemia, BCR-ABL1 negative |
atypical chronic myeloid leukaemia BCR-ABL1 negati..
[+]
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A myelodysplastic myeloproliferative neoplasm char..[+]
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alpha-2-plasmin inhibitor deficiency |
antiplasmin defiency; plasmin inhibitor deficiency..
[+]
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A hemorrhagic disease that has_material_basis_in m..[+]
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alpha-methylacyl-CoA racemase deficiency |
AMACR deficiency
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A peroxisomal disease that is characterized by ret..[+]
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ankyloglossia |
tongue-tie
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A tongue disease characterized by an unusually sho..[+]
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anterior segment mesenchymal dysgenesis |
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n_a
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abdominal obesity-metabolic syndrome |
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n_a
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abdominal obesity-metabolic syndrome 3 |
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An abdominal obesity-metabolic syndrome that has_m..[+]
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autosomal recessive congenital ichthyosis |
ARCI
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A skin disease that is characterized by autosomal ..[+]
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autosomal recessive congenital ichthyosis 1 |
ARCI1; bathing suit ichthyosis
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An autosomal recessive congenital ichthyosis that ..[+]
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anencephaly |
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A congenital nervous system abnormality characteri..[+]
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autosomal dominant nocturnal frontal lobe epilepsy |
ENFL
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A frontal lobe epilepsy that is characterized by a..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 1 |
ENFL1; nocturnal frontal lobe epilepsy 1
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An autosomal dominant nocturnal frontal lobe epile..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 2 |
ENFL2; nocturnal frontal lobe epilepsy 2
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An autosomal dominant nocturnal frontal lobe epile..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 3 |
ENFL3; nocturnal frontal lobe epilepsy 3
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An autosomal dominant nocturnal frontal lobe epile..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 4 |
ENFL4; nocturnal frontal lobe epilepsy 4
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An autosomal dominant nocturnal frontal lobe epile..[+]
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autosomal dominant nocturnal frontal lobe epilepsy 5 |
ENFL5; nocturnal frontal lobe epilepsy 5
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An autosomal dominant nocturnal frontal lobe epile..[+]
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