MedGen Find_IDs Find_Terms Annotation
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created at 2024-09-19 07:43:07 UTC
updated at 2024-09-23 18:19:38 UTC
MedGen CUI
Namespace: https://www.ncbi.nlm.nih.gov/medgen/
622,528 entries
Label
Id
porencephaly type 1 C4551998
Porencephaly, Type 1, Autosomal Dominant C4551998
PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT, FORMERLY C4551998
PORENCEPHALY, TYPE 1, FORMERLY C4551998
porencephaly, type 1, autosomal dominant C4551998
LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY C4551998
Leukoencephalopathy with Axenfeld Rieger Anomaly C4551998
Leukoencephalopathy with Axenfeld-Rieger Anomaly C4551998
Col4a1 Related Brain Small Vessel Disease C4551998
Brain Small-Vessel Disease with Hemorrhage C4551998
PORENCEPHALY 1, FORMERLY C4551998
Type 1 Porencephaly C4551998
Autosomal Dominant Porencephaly Type 1 C4551998
Col4a1-Related Brain Small-Vessel Disease C4551998
RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT C4551998