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
Meier-GORLIN syndrome 2; MGORS2 http://purl.obolibrary.org/obo/MONDO_0013428
Loeys-Dietz syndrome 3 13426
autosomal dominant 38 deafness C563421
Loeys-Dietz syndrome 3; LDS3 http://purl.obolibrary.org/obo/MONDO_0013426
distal monosomy 3p 13424
partial monosomy 3p 13424
telomeric monosomy 3p 13424
retinitis pigmentosa 40 13429
retinitis pigmentosa 40; RP40 http://purl.obolibrary.org/obo/MONDO_0013429
spastic paraplegia 48, autosomal recessive 13342
spastic paraplegia 48, autosomal recessive; SPG48 http://purl.obolibrary.org/obo/MONDO_0013342
autosomal dominant 6 deafness C563421
complement component 8 deficiency type 1 13422
complement component 8 deficiency type 2 13421
complement component 8 deficiency type I 13422