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Results 1 - 20 of 8699 results

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Disease                  Synonyms                  Description
2-hydroxyglutaric aciduria
An amino acid metabolic disorder that is an autosomal recess..[+]
3-M syndrome
dolichospondylic dysplasia; gloomy face syndrome; Le Merrer .. [+]
An autosomal recessive disease characterized by dwarfism, fa..[+]
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylcrotonylglycinuria; 3MCC deficiency; BMCC deficiency.. [+]
An amino acid metabolic disorder that has_material_basis_in ..[+]
3-methylglutaconic aciduria
An organic acidemia that is characterized by elevated levels..[+]
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type I; 3-methylglutaconyl-CoA h.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in hom..[+]
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type III; autosomal recessive op.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in mut..[+]
3-methylglutaconic aciduria type 4
3-methylglutaconic aciduria type IV; MGA type IV; MGA4; MGCA.. [+]
A 3-methylglutaconic aciduria that is characterized by mild ..[+]
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type V; DCMA; DCMA syndrome; dil.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in hom..[+]
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria type 7; 3-methylglutaconic acidu.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in hom..[+]
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria type 6; MEGDEL; MEGDEL syndrome;.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in hom..[+]
3MC syndrome
craniofacial-ulnar-renal syndrome; oculopalatoskeletal syndr.. [+]
A syndrome characterized by blepharophimosis, blepharoptosis..[+]
3MC syndrome 1
A 3MC syndrome that has_material_basis_in homozygous mutatio..[+]
3MC syndrome 2
A 3MC syndrome that has_material_basis_in homozygous mutatio..[+]
3MC syndrome 3
A 3MC syndrome that has_material_basis_in a compound heteroz..[+]
3p- syndrome
chromosome 3pter-P25 deletion syndrome; distal monosomy 3p;
n_a
46 XX gonadal dysgenesis
A gonadal dysgenesis that is characterized by the lack of fu..[+]
46 XY gonadal dysgenesis
46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY; Swyer syn.. [+]
A gonadal dysgenesis that is characterized by a normal 46,XY..[+]
ABCD syndrome
albinism, block lock, cell migration disorder of the neurocy.. [+]
An autosomal recessive disease that is characterized by albi..[+]
ACTH-secreting pituitary adenoma
ACTH-Producing Pituitary Adenoma; Corticotroph adenoma; Cort.. [+]
A functioning pituitary adenoma that characterized by excess..[+]
ADULT syndrome
acro-dermato-ungual-lacrimal-tooth syndrome;
An autosomal dominant disease that is characterized by light..[+]

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