Disease Index
9,486 diseases46,XY disorder of sex development due to a cholesterol synthesis defect
human disease
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue
human disease
46,XY disorder of sex development due to a testosterone synthesis defect
human disease
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
human disease
46,XY disorder of sex development due to impaired androgen production
human disease
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
human disease
46,XY disorder of sex development due to testicular steroidogenesis defect
human disease
46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors
human disease
46,XY disorder of sex development of endocrine origin
human disease
46,XY disorder of sex development of gynecological interest
human disease
46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
human disease
46,XY ovotesticular disorder of sex development
46,XY partial gonadal dysgenesis
48,XXXX syndrome
rare chromosomal disorder with 4 X chromosomes
ICD: Q97.1MeSH: C536502
49,XXXXY syndrome
chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males
49,XXXYY syndrome
chromosomal disorder
49,XYYYY syndrome
rare chromosomal disorder
4H leukodystrophy
rare disease
4p16.3 microduplication syndrome
5-alpha-reductase deficiency
medical condition
ICD: E29.1
5-fluorouracil poisoning
5-oxoprolinase deficiency
5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria
MeSH: C535322
5q14.3 microdeletion syndrome
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
5q35 microduplication syndrome
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation
6-phosphogluconate dehydrogenase deficiency
human disease
6p22 microdeletion syndrome
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations
6q terminal deletion syndrome
6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations
6q16 deletion syndrome
Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay
7p22.1 microduplication syndrome
7q11.23 microduplication syndrome
medical condition
MeSH: C565723