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"

8 matching diseasesClear search ×

X-linked complex spastic paraplegia

Complex X-linked HSP · Complex X-linked SPG

ORPHA:98888

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

ORPHA:102013

Pure or complex X-linked spastic paraplegia

Pure or complicated X-linked spastic paraplegia

ORPHA:320350

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC

ORPHA:95702

X-linked adrenoleukodystrophy

ALD · X-ALD

ORPHA:43

X-linked Ehlers-Danlos syndrome

EDS V · Ehlers-Danlos syndrome type 5

ORPHA:75497

X-linked scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal syndrome

ORPHA:431272

Xeroderma pigmentosum-Cockayne syndrome complex

XP/CS complex

ORPHA:220295