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
hypoxanthine guanine phosphoribosyltransferase complete deficiency 10298
complete hypoxanthine-guanine phosphoribosyltransferase deficiency 10298
hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV 10298
bilateral parasagittal parieto-occipital polymicrogyria 12986
autosomal recessive primary microcephaly caused by mutation in STIL 12989
polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome 12984
microcephaly 7, primary, autosomal recessive 12989
microcephaly 7, primary, autosomal recessive; MCPH7 http://purl.obolibrary.org/obo/MONDO_0012989
disease of stomach 4298
STIL autosomal recessive primary microcephaly 12989
agammaglobulinemia, autosomal recessive, due to Cd79B defect 12987
congenital mitral regurgitation 1298
multicentric osteolysis-nodulosis-arthropathy spectrum 18298
SLC4A1 hereditary spherocytosis 12981
EPB42 hereditary spherocytosis 12985