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Mondo Disease Ontology
MONDO
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Label
Id
Description
RAB23-related Carpenter syndrome
MONDO_0008710
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
MONDO_0008729
46,XX disorder of sex development induced by fetal androgens excess
MONDO_0019593
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
MONDO_0008728
female infertility
MONDO_0021124
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
MONDO_0008727
46,XY disorder of sex development of endocrine origin
MONDO_0017969
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
MONDO_0008726
congenital lipoid adrenal hyperplasia due to STAR deficency
MONDO_0008725
adducted thumbs-arthrogryposis syndrome, Christian type
MONDO_0008724
very long chain acyl-CoA dehydrogenase deficiency
MONDO_0008723
long chain acyl-CoA dehydrogenase deficiency
MONDO_0020531
short chain acyl-CoA dehydrogenase deficiency
MONDO_0008722
acyl-CoA dehydrogenase deficiency
MONDO_0017714
medium chain acyl-CoA dehydrogenase deficiency
MONDO_0008721
congenital isolated adrenocorticotropic hormone deficiency
MONDO_0008720
non-acquired pituitary hormone deficiency
MONDO_0019824
hypopituitarism
MONDO_0005152
agenesis of cerebral white matter
MONDO_0008739
aganglionosis, total intestinal
MONDO_0008738