Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Antley-Bixler syndrome |
A craniosynostosis that is characterized by radioh..[+]
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Antley-Bixler syndrome without disordered steroidogenesis |
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An Antley-Bixler syndrome that has_material_basis_..[+]
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amyotrophic lateral sclerosis type 24 |
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An amyotrophic lateral sclerosis that is character..[+]
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amyotrophic lateral sclerosis type 25 |
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An amyotrophic lateral sclerosis that is character..[+]
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amyotrophic lateral sclerosis type 26 |
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An amyotrophic lateral sclerosis that is character..[+]
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amyotrophic lateral sclerosis type 28 |
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An amyotrophic lateral sclerosis that is character..[+]
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ataxia-oculomotor apraxia type 4 |
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An autosomal recessive cerebellar ataxia that is c..[+]
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ataxia-telangiectasia-like disorder-1 |
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An autosomal recessive cerebellar ataxia that is c..[+]
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ataxia-telangiectasia-like disorder-2 |
PCNA-related progressive neurodegenerative photose..
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An autosomal recessive cerebellar ataxia that is c..[+]
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autosomal dominant distal hereditary motor neuronopathy 10 |
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal dominant distal hereditary motor neuronopathy 11 |
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal dominant distal hereditary motor neuronopathy 13 |
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An autosomal dominant distal hereditary motor neur..[+]
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anaplastic sarcoma of the kidney |
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A kidney sarcoma that is characterized by a prolif..[+]
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autosomal recessive distal hereditary motor neuronopathy 6 |
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An autosomal recessive distal hereditary motor neu..[+]
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autosomal recessive distal hereditary motor neuronopathy 7 |
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An autosomal recessive distal hereditary motor neu..[+]
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autosomal recessive distal hereditary motor neuronopathy 8 |
sorbitol dehydrogenase deficiency with peripheral ..
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An autosomal recessive distal hereditary motor neu..[+]
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autosomal recessive distal hereditary motor neuronopathy 9 |
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An autosomal recessive distal hereditary motor neu..[+]
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autosomal recessive distal hereditary motor neuronopathy 10 |
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An autosomal recessive distal hereditary motor neu..[+]
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agenesis of the corpus callosum with peripheral neuropathy |
Andermann syndrome; corpus callosum agenesis-neuro..
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A neurodegenerative disease characterized by autos..[+]
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2 articles | |
autosomal dominant familial periodic fever |
familial hibernian fever; tumor necrosis factor re..
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A primary immunodeficiency disease characterized b..[+]
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autosomal dominant macrothrombocytopenia TUBB1-related |
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A thrombocytopenia that is characterized by macrot..[+]
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autosomal recessive hypercholesterolemia |
A familial hypercholesterolemia that is characteri..[+]
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autosomal dominant hypocalcemia 1 |
HYPOC1
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An autosomal dominant hypocalcemia disease that ha..[+]
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autosomal dominant hypocalcemia 2 |
HYPOC2
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An autosomal dominant hypocalcemia disease that ha..[+]
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autosomal dominant hypocalcemia |
HYPOC
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A metal metabolism disorder characterized by autos..[+]
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1 articles | |
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
ankyloblepharon-ectodermal defects-cleft lip and p..
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An ectodermal dysplasia that is characterized by a..[+]
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aromatase excess syndrome |
AEXS; familial hyperestrogenism; increased aromata..
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A reproductive system disease characterized by inc..[+]
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aromatic L-amino acid decarboxylase deficiency |
AADC deficiency
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An inherited metabolic disorder that is characteri..[+]
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achromatopsia 2 |
ACHM2; rod monochromacy 2; rod monochromatism 2; R..
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An achromatopsia that has_material_basis_in homozy..[+]
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1 articles | |
achromatopsia 3 |
An achromatopsia that has_material_basis_in homozy..[+]
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1 articles | ||
achromatopsia 7 |
ACHM7
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An achromatopsia that has_material_basis_in homozy..[+]
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achromatopsia 4 |
ACHM4
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An achromatopsia that has_material_basis_in homozy..[+]
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advanced sleep phase syndrome 1 |
familial advanced sleep phase syndrome 1; FASPS1
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An advanced sleep phase syndrome that has material..[+]
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advanced sleep phase syndrome 2 |
familial advanced sleep phase syndrome 2; FASPS2
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An advanced sleep phase syndrome that has material..[+]
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advanced sleep phase syndrome 3 |
familial advanced sleep phase syndrome 3; FASPS3
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An advanced sleep phase syndrome that has material..[+]
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age related macular degeneration 1 |
ARMD1; age related maculopathy 1
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An age related macular degeneration associated wit..[+]
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age related macular degeneration 2 |
ARMD2
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An age related macular degeneration conferred by v..[+]
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age related macular degeneration 4 |
ARMD4
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An age related macular degeneration conferred by v..[+]
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age related macular degeneration 6 |
ARMD6
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An age related macular degeneration conferred by h..[+]
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age related macular degeneration 7 |
ARMD7
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An age related macular degeneration conferred by v..[+]
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age related macular degeneration 8 |
ARMD8
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An age related macular degeneration that has mater..[+]
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age related macular degeneration 9 |
ARMD9
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An age related macular degeneration conferred by v..[+]
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age related macular degeneration 10 |
ARMD10
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An age related macular degeneration associated wit..[+]
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age related macular degeneration 11 |
ARMD11
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An age related macular degeneration conferred by v..[+]
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age related macular degeneration 12 |
ARMD12
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An age related macular degeneration conferred by m..[+]
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age related macular degeneration 13 |
ARMD13
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An age related macular degeneration conferred by h..[+]
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age related macular degeneration 14 |
ARMD14
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An age related macular degeneration associated wit..[+]
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age related macular degeneration 15 |
ARMD15
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An age related macular degeneration conferred by v..[+]
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age related macular degeneration 5 |
ARMD5
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An age related macular degeneration onferred by he..[+]
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alpha thalassemia-intellectual disability syndrome type 1 |
An alpha thalassemia that has_material_basis_in a ..[+]
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