MONDO_merge Find_IDs Find_Terms Annotation
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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
congenital disorder of glycosylation, type IIo 14789
combined oxidative phosphorylation deficiency 29 14781
TXN2 combined oxidative phosphorylation deficiency 14781
benign neoplasm of the nasopharynx 21478
benign tumor of the nasopharynx 21478
combined oxidative phosphorylation deficiency 29; COXPD29 14781
combined oxidative phosphorylation deficiency caused by mutation in TXN2 14781
combined oxidative phosphorylation deficiency type 29 14781
PPP1R15B microcephaly, short stature, and impaired glucose metabolism 14785
BVES autosomal recessive limb-girdle muscular dystrophy 14782
LIMS2 autosomal recessive limb-girdle muscular dystrophy 14788
benign nasopharyngeal tumor 21478
microcephaly, short stature, and impaired glucose metabolism 2 14785
microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2 14785
microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B 14785