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Disease Synonyms Description Articles Phenotypes
17-beta hydroxysteroid dehydrogenase 3 deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency;.. [+]
A pseudohermaphroditism characterized by undermasc..[+]
2-hydroxyglutaric aciduria
An amino acid metabolic disorder that is an autoso..[+]
3-M syndrome
gloomy face syndrome; Le Merrer syndrome; three M .. [+]
A syndrome characterized by dwarfism, facial dysmo..[+]
3-Methylcrotonyl-CoA carboxylase deficiency
3MCC deficiency; BMCC deficiency; 3-Methylcrotonyl.. [+]
An amino acid metabolic disorder that has_material..[+]
3-methylglutaconic aciduria
An organic acidemia that is characterized by eleva..[+]
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type I; 3MG-CoA hydrat.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type III; autosomal re.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria type 4
MGA type IV; MGA4; MGCA4; 3-methylglutaconic acidu.. [+]
A 3-methylglutaconic aciduria that is characterize..[+]
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type V; DCMA syndrome;.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria type 7; 3-methylglutac.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria type 6; MEGDEL; MGCA6;.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
3MC syndrome
oculopalatoskeletal syndrome ; craniofacial-ulnar-.. [+]
A syndrome characterized by blepharophimosis, blep..[+]
3MC syndrome 1
A 3MC syndrome that has_material_basis_in homozygo..[+]
3MC syndrome 2
A 3MC syndrome that has_material_basis_in homozygo..[+]
3MC syndrome 3
A 3MC syndrome that has_material_basis_in a compou..[+]
3p deletion syndrome
chromosome 3pter-P25 deletion syndrome; distal mon.. [+]
A chromosomal deletion syndrome that has_material_..[+]
45,X/46,XY mixed gonadal dysgenesis
A mixed gonadal dysgenesis that is characterized b..[+]
46 XX gonadal dysgenesis
A gonadal dysgenesis that is characterized by the ..[+]
46,XX sex reversal
46,XX testicular disorder of sex development; 46,X.. [+]
A gonadal dysgenesis characterized by presentation..[+]
46,XX sex reversal 1
SRXX1;
A 46,XX sex reversal that has_material_basis_in tr..[+]
46,XX sex reversal 2
chromosome 17q24 dupication syndrome; SRXX2;
A 46,XX sex reversal that has_material_basis_in he..[+]
46,XX sex reversal 3
SRXX3;
A 46,XX sex reversal that has_material_basis_in ge..[+]
46,XX sex reversal 4
SRXX4;
A 46,XX sex reversal that has_material_basis_in he..[+]
46,XX sex reversal 5
A 46,XX sex reversal that is characterized by geni..[+]
46,XY sex reversal
46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY;.. [+]
A gonadal dysgenesis that is characterized by a no..[+]
46,XY sex reversal 1
46,XY gonadal dysgenesis, complete, SRY-related; 4.. [+]
A 46 XY sex reversal characterized by an XY karyot..[+]
46,XY sex reversal 10
SRXY10; chromosome 17q24 deletion syndrome;
A 46 XY sex reversal characterized by an XY karyot..[+]
46,XY sex reversal 2
46,XY sex reversal, DAX1-related; 46XY sex reversa.. [+]
A 46 XY sex reversal characterized by an XY karyot..[+]
46,XY sex reversal 3
46,XY gonadal dysgenesis, partial or complete, wit.. [+]
A 46 XY sex reversal characterized by an XY karyot..[+]
46,XY sex reversal 4
46,XY gonadal dysgenesis, partial or complete, wit.. [+]
A 46 XY sex reversal characterized by an XY karyot..[+]
46,XY sex reversal 5
46,XY gonadal dysgenesis, complete, CBX2-related; .. [+]
A 46 XY sex reversal characterized by an XY karyot..[+]
46,XY sex reversal 6
46,XY gonadal dysgenesis, partial or complete, MAP.. [+]
A 46 XY sex reversal characterized by an XY karyot..[+]
46,XY sex reversal 7
46,XY gonadal dysgenesis, partial or complete, DHH.. [+]
A 46 XY sex reversal characterized by an XY karyot..[+]
46,XY sex reversal 8
male pseudohermaphroditism due to deficiency of te.. [+]
A 46 XY sex reversal characterized by an XY karyot..[+]
7q11.23 duplication syndrome
7q11.23 microduplication syndrome; chromosome 7q11.. [+]
A chromosomal duplication syndrome that is charact..[+]
ABCD syndrome
albinism, block lock, cell migration disorder of t.. [+]
A syndrome that is characterized by albinism, blac..[+]
ACTH-independent macronodular adrenal hyperplasia
ACTH-independent macronodular adrenocortical hyper.. [+]
A primary hyperaldosteronism characterized by mult..[+]
ACTH-independent macronodular adrenal hyperplasia 1
AIMAH1;
An ACTH-independent macronodular adrenal hyperplas..[+]
ACTH-independent macronodular adrenal hyperplasia 2
AIMAH2;
An ACTH-independent macronodular adrenal hyperplas..[+]
ACTH-secreting pituitary adenoma
ACTH-Producing Pituitary Adenoma; Corticotroph ade.. [+]
A functioning pituitary adenoma that characterized..[+]
ADULT syndrome
acro-dermato-ungual-lacrimal-tooth syndrome;
A syndrome that is characterized by light pigmenta..[+]
AGAT deficiency
arginine:glycine amidinotransferase deficiency; CE.. [+]
An amino acid metabolic disorder that has_material..[+]
AIDS phobia
n_a
AMME complex
Alport syndrome-intellectual disability-midface hy.. [+]
A syndrome characterized by Alport syndrome, menta..[+]
APP-related cerebral amyloid angiopathy
Amyloidosis, Cerebroarterial, App-Related; Amyloid.. [+]
A cerebral amyloid angiopathy that has_material_ba..[+]
ARC syndrome
Arthrogryposis, renal dysfunction and cholestasis .. [+]
A syndrome that is characterized by congenital joi..[+]
Aagenaes syndrome
Cholestasis-edema syndrome, Norwegian type (disord.. [+]
A syndrome that is characterized by congenital hyp..[+]
Aarskog syndrome
Aarskog-Scott syndrome; faciogenital dysplasia; Gr.. [+]
A monogenic disease affects a person's height, mus..[+]
Aarskog syndrome
faciodigitogenital syndrome; faciogenital dysplasi.. [+]
A syndrome characterized by facial, limbs and geni..[+]
Abruzzo-Erickson syndrome
CHARGE-like syndrome, X-linked; cleft palate-colob.. [+]
A syndrome characterized by cleft palate, coloboma..[+]

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