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
primary ciliary dyskinesia caused by mutation in RSPH9 12979
primary ciliary dyskinesia type 12 12979
primary ciliary dyskinesia type 19 13979
nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome 19797
dominant neonatal dystrophic epidermolysis bullosa C536979
adult-onset foveomacular dystrophy 11979
pseudo-vitelliform macular dystrophy 11979
adult-onset foveomacular dystrophy with choroidal neovascularization 11979
chorea, benign familial 8979
ichthyosis tapered fingers midline groove up 9792
dominant neonatal form epidermolysis bullosa dystrophica C536979
Ornithinemia with gyrate atrophy 9796
hyperornithinemia with gyrate atrophy of choroid and retina 9796
obsolete acute hepatic porphyria 19798.0
21 alpha hydroxylase deficiency C535979