MONDO_merge Find_IDs Find_Terms Annotation
manager
language -
license -
created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
glycoprotein neuraminidase deficiencies D009081
deafness, neural, congenital moderate 9087
Acetyl-CoA:alpha-Glucosaminide n-acetyltransferase deficiencies D009084
n-acetylglucosamine-6-sulfate sulfatase deficiencies D009084
arylsulfatase b deficiencies D009087
7-dehydrocholesterol reductase deficiencies D019082
N-acetylglucosaminyltransferase 2 deficiency 8908
MPS 3 d D009084
MPS III d D009084
sanfilippo syndrome d D009084
high myopia-sensorineural deafness syndrome 9082
nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy 9086
cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature 42908
i cell disease D009081
Acetyl-CoA:alpha-Glucosaminide n-acetyltransferase deficiency D009084