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"

11 matching diseasesClear search ×

Niemann-Pick disease type D

Niemann-Pick disease, Nova Scotia type

ORPHA:79289

Chronic neurovisceral acid sphingomyelinase deficiency

Chronic neurovisceral ASMD · Niemann-Pick disease type A/B

ORPHA:618891

Chronic visceral acid sphingomyelinase deficiency

Chronic visceral ASMD · Niemann-Pick disease type B

ORPHA:77293

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile neurovisceral ASMD · Niemann-Pick disease type A

ORPHA:77292

Niemann-Pick disease type C

ORPHA:646

Niemann-Pick disease type C, adult neurologic onset

ORPHA:216986

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, classic form

ORPHA:216981

Niemann-Pick disease type C, late infantile neurologic onset

ORPHA:216978

Niemann-Pick disease type C, severe early infantile neurologic onset

ORPHA:216975

Niemann-Pick disease type C, severe perinatal form

ORPHA:216972

OBSOLETE: Niemann-Pick disease type E

ORPHA:99022