MONDO_merge Find_IDs Find_Terms Annotation
manager
language -
license -
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
complementation group c mucolipidosis III C565367
high Red cell phosphatidylcholine hemolytic Anemia 8367
retinitis pigmentosa caused by mutation in TOPORS 12367
keratoconus with cataract 13678
ring 22, chromosome C536795
trisomy 2q chromosome 2 C535367
tetrasomy 21q chromosome 21 C536793
monosome mosaic chromosome 22 C536798
congestive splenomegaly, chronic 1367