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
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant C4551998
BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES C4551998
BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY C4551998
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE C4551998
Brain Small Vessel Disease With Axenfeld Rieger Anomaly C4551998
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly C4551998
Brain Small Vessel Disease with Hemorrhage C4551998
HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY C4551998
Familial Porencephalic White Matter Disease C4551998
COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome C4551998
leukoencephalopathy with axenfeld-rieger anomaly C4551998
porencephaly caused by mutation in COL4A1 C4551998
autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy C4551998
COL4A1-related brain small vessel disease with haemorrhage C4551998
COL4A1-related brain small vessel disease with hemorrhage C4551998