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
AD-SPAX 17846
KBGS 7846
KBG syndrome 7846
spastic ataxia, autosomal dominant 17846
KBG syndrome; KBGS http://purl.obolibrary.org/obo/MONDO_0007846
short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome 7846
macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies 7846
Noonan-like-multiple giant cell lesion syndrome C537846
short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies 7846
short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies 7846
macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies 7846
autosomal dominant spastic ataxia 17846
noonan like syndrome C537846
noonan syndrome with pigmented villonodular synovitis C537846