Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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17-beta hydroxysteroid dehydrogenase 3 deficiency |
17-beta-hydroxysteroid dehydrogenase 3 deficiency;..
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A pseudohermaphroditism characterized by undermasc..[+]
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2-aminoadipic 2-oxoadipic aciduria |
alpha-aminoadipic aciduria; AMOXAD;
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An amino acid metabolic disorder characterized by ..[+]
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2-hydroxyglutaric aciduria |
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An amino acid metabolic disorder that is an autoso..[+]
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3-M syndrome |
gloomy face syndrome; Le Merrer syndrome; three M ..
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A syndrome characterized by dwarfism, facial dysmo..[+]
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3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
3-hydroxy-3-methylglutaryl-coenzyme A lyase defici..
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An amino acid metabolic disorder characterized by ..[+]
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3-hydroxyisobutryl-CoA hydrolase deficiency |
HIBCH deficiency; Methacrylic aciduria; Valine met..
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An amino acid metabolic disorder characterized by ..[+]
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3-methylcrotonyl-CoA carboxylase 1 deficiency |
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A 3-Methylcrotonyl-CoA carboxylase deficiency that..[+]
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3-methylcrotonyl-CoA carboxylase 2 deficiency |
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A 3-Methylcrotonyl-CoA carboxylase deficiency that..[+]
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3-methylcrotonyl-CoA carboxylase deficiency |
3MCC deficiency; BMCC deficiency; 3-Methylcrotonyl..
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An amino acid metabolic disorder that is classifie..[+]
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3-methylglutaconic aciduria |
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An organic acidemia that is characterized by eleva..[+]
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3-methylglutaconic aciduria type 1 |
3MG-CoA hydratase deficiency; 3-methylglutaconic a..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria type 3 |
3-methylglutaconic aciduria type III; autosomal re..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria type 4 |
MGA type IV; MGA4; MGCA4; 3-methylglutaconic acidu..
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A 3-methylglutaconic aciduria that is characterize..[+]
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3-methylglutaconic aciduria type 5 |
3-methylglutaconic aciduria type V; DCMA syndrome;..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria type 7a |
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A 3-methylglutaconic aciduria that is characterize..[+]
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3-methylglutaconic aciduria type 7b |
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria type 8 |
3-methylglutaconic aciduria type VIII, MGCA8;
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria type 9 |
3-methylglutaconic acuduria type IX, MGCA9;
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia |
3-methylglutaconic aciduria type 7; 3-methylglutac..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
3-methylglutaconic aciduria type 6; MEGDEL; MGCA6;..
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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3MC syndrome |
oculopalatoskeletal syndrome ; craniofacial-ulnar-..
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A syndrome characterized by blepharophimosis, blep..[+]
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3MC syndrome 1 |
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A 3MC syndrome that has_material_basis_in autosoma..[+]
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3MC syndrome 2 |
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A 3MC syndrome that has_material_basis_in autosoma..[+]
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3MC syndrome 3 |
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A 3MC syndrome that has_material_basis_in a compou..[+]
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3p deletion syndrome |
chromosome 3pter-P25 deletion syndrome; distal mon..
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A chromosomal deletion syndrome that has_material_..[+]
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45,X/46,XY mixed gonadal dysgenesis |
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A mixed gonadal dysgenesis that is characterized b..[+]
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46 XX gonadal dysgenesis |
ovarian dysgenesis;
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A gonadal dysgenesis that is characterized by the ..[+]
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46,XX sex reversal |
46,XX testicular disorder of sex development; 46,X..
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A gonadal dysgenesis characterized by presentation..[+]
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46,XX sex reversal 1 |
SRXX1;
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A 46,XX sex reversal that has_material_basis_in tr..[+]
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46,XX sex reversal 2 |
chromosome 17q24 dupication syndrome; SRXX2;
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A 46,XX sex reversal that has_material_basis_in he..[+]
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46,XX sex reversal 3 |
SRXX3;
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A 46,XX sex reversal that has_material_basis_in ge..[+]
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46,XX sex reversal 4 |
SRXX4;
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A 46,XX sex reversal that has_material_basis_in he..[+]
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46,XX sex reversal 5 |
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A 46,XX sex reversal that is characterized by geni..[+]
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46,XY sex reversal |
46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY;..
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A gonadal dysgenesis that is characterized by a no..[+]
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46,XY sex reversal 1 |
46,XY gonadal dysgenesis, complete, SRY-related; 4..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 10 |
SRXY10; chromosome 17q24 deletion syndrome;
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 2 |
46,XY sex reversal, DAX1-related; 46XY sex reversa..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 3 |
46,XY gonadal dysgenesis, partial or complete, wit..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 4 |
46,XY gonadal dysgenesis, partial or complete, wit..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 5 |
46,XY gonadal dysgenesis, complete, CBX2-related; ..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 6 |
46,XY gonadal dysgenesis, partial or complete, MAP..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 7 |
46,XY gonadal dysgenesis, partial or complete, DHH..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 8 |
male pseudohermaphroditism due to deficiency of te..
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A 46 XY sex reversal characterized by an XY karyot..[+]
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46,XY sex reversal 9 |
46,XY sex reversal, ZFPM2-related; SRXY9;
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A 46 XY sex reversal characterized by an XY karyot..[+]
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7q11.23 duplication syndrome |
7q11.23 microduplication syndrome; chromosome 7q11..
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A chromosomal duplication syndrome that is charact..[+]
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A53 diffuse large B-cell lymphoma |
A53 DLBCL;
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A diffuse large B-cell lymphoma that is characteri..[+]
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ABCD syndrome |
albinism, block lock, cell migration disorder of t..
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A syndrome that is characterized by albinism, blac..[+]
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ACTH-independent macronodular adrenal hyperplasia |
ACTH-independent macronodular adrenocortical hyper..
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A primary hyperaldosteronism characterized by mult..[+]
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ACTH-independent macronodular adrenal hyperplasia 1 |
AIMAH1;
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An ACTH-independent macronodular adrenal hyperplas..[+]
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ACTH-independent macronodular adrenal hyperplasia 2 |
AIMAH2;
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An ACTH-independent macronodular adrenal hyperplas..[+]
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