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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 .. [+]
A syndrome characterized by dwarfism, facial dysmorphia and ..[+]
3-Methylcrotonyl-CoA carboxylase deficiency
3MCC deficiency; BMCC deficiency; 3-Methylcrotonylglycinuria.. [+]
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; 3MG-CoA hydratase defici.. [+]
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
MGA type IV; MGA4; MGCA4; 3-methylglutaconic aciduria type I.. [+]
A 3-methylglutaconic aciduria that is characterized by mild ..[+]
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type V; DCMA syndrome; MGA5; MGC.. [+]
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; MGCA6; MEGDEL sy.. [+]
A 3-methylglutaconic aciduria that has_material_basis_in hom..[+]
3MC syndrome
oculopalatoskeletal syndrome ; craniofacial-ulnar-renal synd.. [+]
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 deletion syndrome
chromosome 3pter-P25 deletion syndrome; distal monosomy 3p;
A chromosomal deletion syndrome that has_material_basis_in a..[+]
45,X/46,XY mixed gonadal dysgenesis
A mixed gonadal dysgenesis that is characterized by asymmetr..[+]
46 XX gonadal dysgenesis
A gonadal dysgenesis that is characterized by the lack of fu..[+]
46,XX sex reversal
46,XX testicular disorder of sex development; 46,XX testicul.. [+]
A gonadal dysgenesis characterized by presentation of an XX ..[+]
46,XX sex reversal 1
SRXX1;
A 46,XX sex reversal that has_material_basis_in translocatio..[+]
46,XX sex reversal 2
chromosome 17q24 dupication syndrome; SRXX2;
A 46,XX sex reversal that has_material_basis_in heterozygous..[+]
46,XX sex reversal 3
SRXX3;
A 46,XX sex reversal that has_material_basis_in genomic dupl..[+]
46,XX sex reversal 4
SRXX4;
A 46,XX sex reversal that has_material_basis_in heterozygous..[+]
46,XY sex reversal
46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY; Swyer syn.. [+]
A gonadal dysgenesis that is characterized by a normal 46,XY..[+]
46,XY sex reversal 1
46,XY gonadal dysgenesis, complete, SRY-related; 46,XY sex r.. [+]
A 46 XY sex reversal characterized by an XY karyotype, pheno..[+]
46,XY sex reversal 10
chromosome 17q24 deletion syndrome; SRXY10;
A 46 XY sex reversal characterized by an XY karyotype, pheno..[+]
46,XY sex reversal 2
46,XY sex reversal, DAX1-related; 46XY sex reversal 2, dosag.. [+]
A 46 XY sex reversal characterized by an XY karyotype, pheno..[+]
46,XY sex reversal 3
46,XY gonadal dysgenesis, partial or complete, with or witho.. [+]
A 46 XY sex reversal characterized by an XY karyotype, pheno..[+]
46,XY sex reversal 4
46,XY gonadal dysgenesis, partial or complete, with 9p24.3 d.. [+]
A 46 XY sex reversal characterized by an XY karyotype, pheno..[+]
46,XY sex reversal 5
46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex .. [+]
A 46 XY sex reversal characterized by an XY karyotype, pheno..[+]
46,XY sex reversal 6
46,XY gonadal dysgenesis, partial or complete, MAP3K1-relate.. [+]
A 46 XY sex reversal characterized by an XY karyotype, pheno..[+]
46,XY sex reversal 7
46,XY gonadal dysgenesis, partial or complete, DHH-related; .. [+]
A 46 XY sex reversal characterized by an XY karyotype, pheno..[+]
46,XY sex reversal 8
male pseudohermaphroditism due to deficiency of testicular 1.. [+]
A 46 XY sex reversal characterized by an XY karyotype, pheno..[+]
ABCD syndrome
albinism, block lock, cell migration disorder of the neurocy.. [+]
A syndrome that is characterized by albinism, black lock, ce..[+]
ACTH-independent macronodular adrenal hyperplasia
ACTH-independent macronodular adrenocortical hyperplasia; ad.. [+]
A primary hyperaldosteronism characterized by multiple bilat..[+]
ACTH-independent macronodular adrenal hyperplasia 1
AIMAH1;
An ACTH-independent macronodular adrenal hyperplasia that ha..[+]
ACTH-independent macronodular adrenal hyperplasia 2
AIMAH2;
An ACTH-independent macronodular adrenal hyperplasia that ha..[+]
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;
A syndrome that is characterized by light pigmentation with ..[+]
AGAT deficiency
arginine:glycine amidinotransferase deficiency; CEREBRAL CRE.. [+]
An amino acid metabolic disorder that has_material_basis_in ..[+]
AIDS phobia
n_a
APP-related cerebral amyloid angiopathy
Amyloidosis, Cerebroarterial, App-Related; Amyloidosis, Here.. [+]
A cerebral amyloid angiopathy that has_material_basis_in an ..[+]
ARC syndrome
Arthrogryposis, renal dysfunction and cholestasis (ARC) synd.. [+]
A syndrome that is characterized by congenital joint contrac..[+]
Aagenaes syndrome
Cholestasis-edema syndrome, Norwegian type (disorder); Chole.. [+]
A syndrome that is characterized by congenital hypoplasia of..[+]
Aarskog syndrome
Aarskog-Scott syndrome; faciogenital dysplasia; Greig's synd.. [+]
A monogenic disease affects a person's height, muscles, skel..[+]
Aarskog syndrome
Aarskog-Scott syndrome; faciodigitogenital syndrome; facioge.. [+]
A syndrome characterized by facial, limbs and genital anomal..[+]
Abruzzo-Erickson syndrome
CHARGE-like syndrome, X-linked; cleft palate-coloboma-deafne.. [+]
A syndrome characterized by cleft palate, coloboma, hypospad..[+]
Achard syndrome
A syndrome that involves arachnodactyly, receding lower jaw,..[+]
Achenbach syndrome
Paroxysmal hematoma of the finger (disorder); Paroxysmal hem.. [+]
n_a
Achilles bursitis
Achilles bursitis or tendinitis; Capped hock; Haglund's defo.. [+]
n_a
Acinetobacter infectious disease
An opportunistic bacterial infectious disease that has_mater..[+]

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