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"

10 matching diseasesClear search ×

Meacham syndrome

Meacham-Winn-Culler syndrome · Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

ORPHA:3097

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

Chandler syndrome

ORPHA:98979

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

ORPHA:168782

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

ORPHA:566943

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

ORPHA:588

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Culler-Jones syndrome

ORPHA:420584

Primary progressive aphasia

Mesulam syndrome · PPA

ORPHA:95432

X-linked intellectual disability, Wittwer type

Wittwer syndrome

ORPHA:85291