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"

15 matching diseasesClear search ×

Pontocerebellar hypoplasia type 13

PCH13

ORPHA:613267

Paroxysmal cold hemoglobinuria

Donath-Landsteiner hemolytic anemia · Donath-Landsteiner syndrome

ORPHA:90035

Pontocerebellar hypoplasia type 1

Norman disease · PCH1

ORPHA:2254

Pontocerebellar hypoplasia type 10

CLP1-related pontocerebellar hypoplasia · PCH10

ORPHA:411493

Pontocerebellar hypoplasia type 11

Pontocerebellar hypoplasia due to TBC1D23 · PCH11

ORPHA:611247

Pontocerebellar hypoplasia type 12

COASY-related pontocerebellar hypoplasia · PCH12

ORPHA:611256

Pontocerebellar hypoplasia type 14

PCH14

ORPHA:613274

Pontocerebellar hypoplasia type 2

PCH2

ORPHA:2524

Pontocerebellar hypoplasia type 3

Cerebellar atrophy with progressive microcephaly · PCH3

ORPHA:97249

Pontocerebellar hypoplasia type 4

Fatal infantile encephalopathy with olivopontocerebellar hypoplasia · Olivopontocerebellar hypoplasia

ORPHA:166063

Pontocerebellar hypoplasia type 5

Fetal-onset olivopontocerebellar hypoplasia · PCH5

ORPHA:166068

Pontocerebellar hypoplasia type 6

Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6

ORPHA:166073

Pontocerebellar hypoplasia type 7

PCH7 · Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome

ORPHA:284339

Pontocerebellar hypoplasia type 8

PCH8 · Pontocerebellar hypoplasia due to CHMP1A mutation

ORPHA:324569

Pontocerebellar hypoplasia type 9

PCH9

ORPHA:369920