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"

7 matching diseasesClear search ×

OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy

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

ORPHA:437572

Late-onset scapuloperoneal muscular dystrophy with hyaline bodies

Late-onset scapuloperoneal syndrome, myopathic type · Late-onset SPMD with hyaline bodies

ORPHA:431263

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

ORPHA:182050

OBSOLETE: Adult-onset SAPHO syndrome

OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

ORPHA:324982

OBSOLETE: ATR-X-related syndrome

ORPHA:263355

OBSOLETE: DDX59-related orofaciodigital syndrome

ORPHA:369902

X-linked scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal syndrome

ORPHA:431272