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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
autosomal recessive primary microcephaly caused by mutation in STIL 12989
microcephaly 7, primary, autosomal recessive 12989
microcephaly 7, primary, autosomal recessive; MCPH7 http://purl.obolibrary.org/obo/MONDO_0012989
polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome 12984
SLC4A1 hereditary spherocytosis 12981
EPB42 hereditary spherocytosis 12985
oropharyngeal cancer stage 0 21298
bilateral parasagittal parieto-occipital polymicrogyria 12986
STIL autosomal recessive primary microcephaly 12989
agammaglobulinemia, autosomal recessive, due to Cd79B defect 12987
congenital mitral regurgitation 1298
oropharynx in situ carcinoma 21298
carcinoma in situ of oropharynx 21298
carcinoma in situ of the oropharynx 21298
polymicrogyria, bilateral temporooccipital; BTOP http://purl.obolibrary.org/obo/MONDO_0012986