Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

7 matching diseasesClear search ×

COL4A1/2-related familial vascular leukoencephalopathy

COL4A-related brain small vessel disease with hemorrhage · COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome

ORPHA:36383

COL4A1 or COL4A2-related cerebral small vessel disease

COL4A1 or COL4A2-related cerebral angiopathy

ORPHA:477759

COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency

ORPHA:477765

COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency

COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency

ORPHA:477762

HTRA1-related autosomal dominant cerebral small vessel disease

HTRA1-related autosomal dominant cerebral angiopathy

ORPHA:482077

HTRA1-related cerebral small vessel disease

HTRA1-related cerebral angiopathy

ORPHA:482072

OBSOLETE: Not NOTCH3-related small vessel disease of the brain

ORPHA:77304