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"

6 matching diseasesClear search ×

Renal tubular dysgenesis

Primitive renal tubule syndrome · Renotubular dysgenesis

ORPHA:3033

Drug-related renal tubular dysgenesis

ORPHA:97368

Renal tubular dysgenesis due to twin-twin transfusion

ORPHA:97367

Renal tubular dysgenesis of genetic origin

ORPHA:97369

Reticular dysgenesis

AK2 deficiency · De Vaal disease

ORPHA:33355

Reticular dysgenesis-like severe combined immunodeficiency

Reticular dysgenesis-like SCID · Activated Rac2 defect

ORPHA:688543