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"

14 matching diseasesClear search ×

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

ORPHA:363629

GMPPB-related limb-girdle muscular dystrophy R19

LGMD2T · Autosomal recessive limb-girdle muscular dystrophy type 2T

ORPHA:363623

OBSOLETE: ATR-X-related syndrome

ORPHA:263355

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

ORPHA:99763

OBSOLETE: HIV-related anal cancer

ORPHA:443307

OBSOLETE: HIV-related cervical cancer

ORPHA:443322

OBSOLETE: HIV-related Hodgkin lymphoma

ORPHA:443316

OBSOLETE: HIV-related Kaposi sarcoma

ORPHA:443328

OBSOLETE: HIV-related lung cancer

ORPHA:443301

OBSOLETE: HIV-related oropharyngeal cancer

ORPHA:443304

OBSOLETE: HIV-related penile cancer

ORPHA:443313

OBSOLETE: HIV-related vulvovaginal cancer

ORPHA:443319

OBSOLETE: LIMS2-related myopathy

ORPHA:466801

OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy

OBSOLETE: MYH7-related late-onset SPMD · OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome

ORPHA:437572