Disease Index
9,486 diseases3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria that has material basis in mutation in the OPA3 gene
MeSH: C535311
3-methylglutaconic aciduria type 4
3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid
MeSH: C565393
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria that has material basis in homozygous mutation in the DNAJC19 gene on chromosome 3q26
MeSH: C565706
3-methylglutaconic aciduria type IX
3-methylglutaconic aciduria that has material basis in homozygous mutation in the TIMM50 gene on chromosome 19q13
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25
3-phosphoglycerate dehydrogenase deficiency
human disease
3MC syndrome
Human disease
3MC syndrome 1
3MC syndrome associated with the MASP1 gene on chromosome 3q27
3MC syndrome 2
3MC syndrome that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25
MeSH: C535586
3MC syndrome 3
3MC congenital syndrome associated with the COLEC10 gene on chromosome 8q24
ICD: Q89.8
3p- syndrome
Human disease
3p25.3 microdeletion syndrome
human disease
3q26 microduplication syndrome
human disease
3q26q27 microdeletion syndrome
human disease
3q27.3 microdeletion syndrome
human disease
46 XX gonadal dysgenesis
gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female
MeSH: D023961
46, XX/XY
human disease
ICD: Q99.0
46,XX disorder of gonadal development
human disease
46,XX disorder of sex development induced by androgens excess
human disease
46,XX disorder of sex development induced by endogenous maternal-derived androgen
human disease
46,XX disorder of sex development induced by exogenous maternal-derived androgen
human disease
46,XX disorder of sex development induced by fetal androgens excess
human disease
46,XX disorder of sex development induced by fetoplacental androgens excess
human disease
46,XX disorder of sex development induced by maternal-derived androgen
human disease
46,XX disorder of sex development-anorectal anomalies syndrome
46,XX disorder of sex development-skeletal anomalies syndrome
.). It has been described in two sisters born to consanguineous parents.
MeSH: C564869
46,XX disorders of sex development
congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical
MeSH: D058489
46,XX ovarian dysgenesis-short stature syndrome
human disease
46,XY disorder of gonadal development
human disease