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"

13 matching diseasesClear search ×

Juvenile nephropathic cystinosis

Intermediate cystinosis · Juvenile cystinosis

ORPHA:411634

Cystinosis

Protein defect of cystin transport

ORPHA:213

Enthesitis-related juvenile idiopathic arthritis

Enthesitis-related JIA · Juvenile ERA

ORPHA:85438

GM1 gangliosidosis type 2

Juvenile GM1 gangliosidosis · Late-infantile GM1 gangliosidosis

ORPHA:79256

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

ORPHA:79230

Idiopathic juvenile osteoporosis

IJO · Juvenile osteoporosis

ORPHA:85193

Juvenile dermatomyositis

Juvenile DM

ORPHA:93672

Juvenile polymyositis

Juvenile PM

ORPHA:93568

Juvenile polyposis syndrome

JIP · JPS

ORPHA:2929

Juvenile primary lateral sclerosis

JPLS · Juvenile PLS

ORPHA:247604

Ocular cystinosis

Adult-onset cystinosis · Non-nephropathic cystinosis

ORPHA:411641

Solitary bone cyst

Juvenile bone cyst

ORPHA:83468

X-linked retinoschisis

X-linked juvenile retinoschisis · XLRS

ORPHA:792