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
neurodegeneration with brain iron accumulation 4 13674
neurodegeneration with brain iron accumulation 4; NBIA4 http://purl.obolibrary.org/obo/MONDO_0013674
neurodegeneration with brain iron accumulation caused by mutation in C19orf12 13674
neurodegeneration with brain iron accumulation due to C19orf12 mutation 13674
neurodegeneration with brain iron accumulation type 4 13674
sclerosteosis caused by mutation in LRP4 13679
chromosome 15q25 deletion syndrome 13672
TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy 13677
mitochondrial membrane protein-associated neurodegeneration 13674
fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3 13675
complete hydatidiform mole caused by mutation in KHDC3L 13671
mitochondrial Protein-associated neurodegeneration 13674
endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome 13678
autosomal dominant keratoconus with early-onset anterior polar cataracts 13678
BOLA3 fatal multiple mitochondrial dysfunctions syndrome 13675