Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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autosomal recessive intellectual developmental disorder 65 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 66 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 67 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 68 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 69 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 70 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 71 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 73 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 75 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 76 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 77 |
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An autosomal recessive intellectual developmental ..[+]
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acromesomelic dysplasia-3 |
Demirhan-type acromesomelic dysplasia
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An acromesomelic dysplasia that has_material_basis..[+]
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acromesomelic dysplasia-4 |
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An acromesomelic dysplasia that is characterized b..[+]
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autoimmune interstitial lung, joint, and kidney disease |
Autoimmune interstitial lung disease-arthritis syn..
[+]
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A syndrome that is characterized by interstitial l..[+]
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astrocytoma, IDH-mutant, grade 2 |
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An IDH-mutant anaplastic astrocytoma that is chara..[+]
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astrocytoma, IDH-mutant, grade 3 |
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An IDH-mutant anaplastic astrocytoma that is chara..[+]
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angiocentric glioma |
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A low grade glioma that is characterized by an ang..[+]
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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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auto-brewery syndrome |
auto brewery syndrome; gut fermentation syndrome
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An acquired metabolic disease that is characterize..[+]
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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 that has_materi..[+]
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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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