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
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia; MMDS2 http://purl.obolibrary.org/obo/MONDO_0013675
multiple mitochondrial dysfunctions syndrome 2; MMDS2 http://purl.obolibrary.org/obo/MONDO_0013675
multiple mitochondrial dysfunctions syndrome type 2 13675
EMERY-Dreifuss muscular dystrophy 7, autosomal dominant 13677
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 13677
EMERY-Dreifuss muscular dystrophy 7, autosomal dominant; EDMD7 http://purl.obolibrary.org/obo/MONDO_0013677
KHDC3L complete hydatidiform mole 13671
endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome 13678
endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome 13678
autosomal dominant keratoconus with early-onset anterior polar cataracts 13678
fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3 13675
complete hydatidiform mole caused by mutation in KHDC3L 13671
BOLA3 fatal multiple mitochondrial dysfunctions syndrome 13675
mitochondrial Protein-associated neurodegeneration 13674
acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia 11367