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 ×

Atypical glycine encephalopathy

Atypical NKA · Atypical non-ketotic hyperglycinemia

ORPHA:289863

Atypical autism

ORPHA:199627

Atypical hemolytic uremic syndrome

aHUS · atypical hemolytic uremic syndrome

ORPHA:2134

Atypical hemolytic uremic syndrome with anti-factor H antibodies

aHUS · aHUS with anti-factor H antibodies

ORPHA:93581

Atypical hemolytic uremic syndrome with complement gene abnormality

aHUS · aHUS with complement gene abnormality

ORPHA:544472

Atypical hypotonia-cystinuria syndrome

Atypical HCS

ORPHA:238523

Atypical pantothenate kinase-associated neurodegeneration

NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form

ORPHA:216873

Atypical papilloma of choroid plexus

Atypical choroid plexus papilloma · Atypical CPP

ORPHA:251902

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

ORPHA:3095

Atypical Timothy syndrome

ATS · Atypical LQT8

ORPHA:595109

Carotid web

AFMD · CaW

ORPHA:698260

Persistent idiopathic facial pain

AFP · Atypical facial pain

ORPHA:398147

Well-differentiated liposarcoma

ALT · Atypical lipoma

ORPHA:99971