brain small vessel disease 1 with or without ocular anomalies
Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.
MONDO:0018790
obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency (obsolete MONDO:0018790)
excluded_subClassOf
MONDO:0020496
familial porencephaly
is_a
MONDO:0800461
COL4A1-related disorder
is_a
ADT1P
exact
BSVD
exact
BSVD1
exact
COL4A1 porencephaly
exact
COL4A1-related brain small vessel disease with haemorrhage
exact
POREN1
related
T1P
exact
brain small vessel disease with axenfeld-rieger anomaly
exact
brain small vessel disease with haemorrhage
exact
brain small vessel disease with hemorrhage
exact
brain small vessel disease with or without ocular anomalies
exact
hemiplegia, infantile, with porencephaly
exact
leukoencephalopathy with axenfeld-rieger anomaly
exact
porencephaly 1
exact
porencephaly caused by mutation in COL4A1
exact
porencephaly type 1
exact
porencephaly, type 1, autosomal dominant
related
retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant
exact