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| Disease | Synonyms | Description | Articles | Phenotypes |
|---|---|---|---|---|
| 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 |
MEGDEL; MEGDEL syndrome; MGCA6; 3-methylglutaconic..
[+]
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A 3-methylglutaconic aciduria that has_material_ba..[+]
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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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| 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 |
chromosome 17q24 deletion syndrome; SRXY10;
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A 46 XY sex reversal characterized by an XY karyot..[+]
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| 46,XY sex reversal 2 |
SRXY2; 46,XY sex reversal, DAX1-related; 46XY sex ..
[+]
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A 46 XY sex reversal characterized by an XY karyot..[+]
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