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"

28 matching diseasesClear search ×

Pediatric acute respiratory distress syndrome

Pediatric ARDS · PARDS

ORPHA:685082

Pediatric arterial ischemic stroke

Childhood AIS · Childhood arterial ischemic stroke

ORPHA:439175

Pediatric collagenous gastritis

Childhood-onset collagenous gastritis

ORPHA:487809

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

ORPHA:33402

Pediatric multiple sclerosis

ORPHA:477738

Pediatric systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

ORPHA:93552

Pediatric-onset glaucoma

ORPHA:523000

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

ORPHA:359

Pediatric-onset Graves disease

Pediatric-onset Basedow disease

ORPHA:525731

Paroxysmal exertion-induced dyskinesia

DYT18 · Dystonia 18

ORPHA:98811

Granulomatous arthritis of childhood

Autoinflammatory granulomatosis of childhood · Granulomatous inflammatory arthritis, dermatitis, and uveitis

ORPHA:3274

PANDAS

Pediatric autoimmune disorders associated with Streptococcus infections · Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections

ORPHA:66624

Periodontal Ehlers-Danlos syndrome

Periodontal EDS · EDS VIII

ORPHA:75392

Angel-shaped phalango-epiphyseal dysplasia

ASPED

ORPHA:63442

Butterfly-shaped pigment dystrophy

Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy

ORPHA:99001

Idiopathic dropped head syndrome

Isolated neck extensor myopathy

ORPHA:447881

Intellectual disability-cupped ears syndrome

Snijders Blok-Fisher syndrome

ORPHA:656135

OBSOLETE: Hereditary pediatric Behçet-like disease

OBSOLETE: Behçet-like disease due to HA20 · OBSOLETE: Behçet-like disease due to haploinsufficiency of A20

ORPHA:476102

OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome

OBSOLETE: Fitzsimmons-Guilbert syndrome

ORPHA:2823

OBSOLETE: Pediatric Castleman disease

ORPHA:93682

OBSOLETE: Pediatric polyarteritis nodosa

OBSOLETE: PAN, pediatric onset

ORPHA:93564

OBSOLETE: Pediatric Sjögren syndrome

ORPHA:93566

OBSOLETE: Pediatric systemic sclerosis

OBSOLETE: Pediatric systemic scleroderma

ORPHA:93567

Primary pediatric heart tumor

Cardiac tumor of child · Heart tumor of child

ORPHA:875

Rare pediatric rheumatologic disease

ORPHA:486955

Rare pediatric systemic disease

ORPHA:280373

Rare pediatric vasculitis

ORPHA:280369

Torpedo Maculopathy

Solitary hypopigmented nevus of the retinal pigment epithelium · TM

ORPHA:674935