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"

16 matching diseasesClear search ×

Castleman disease

Angiofollicular ganglionic hyperplasia · Angiofollicular lymph hyperplasia

ORPHA:160

Cold agglutinin disease

CAD · CAS

ORPHA:56425

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

Cassia Stocco dos Santos syndrome

ORPHA:1101

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

ORPHA:275517

Microcephaly-albinism-digital anomalies syndrome

Castro Gago-Pombo-Novo syndrome

ORPHA:2513

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

ORPHA:1234

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

ORPHA:159

Fetal encasement syndrome

ORPHA:465824

Immunodeficiency due to a complement cascade component deficiency

ORPHA:459345

Immunodeficiency due to a complement cascade protein anomaly

ORPHA:101992

OBSOLETE: Limbic encephalitis with caspr2 antibodies

ORPHA:276402

OBSOLETE: Multicentric Castleman disease

OBSOLETE: MCD · OBSOLETE: Multicentric giant lymph node hyperplasia

ORPHA:93686

OBSOLETE: Pediatric Castleman disease

ORPHA:93682

Unicentric Castleman disease

Localized Castleman disease

ORPHA:93685

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome

ORPHA:504476

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

ORPHA:209908