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 ×

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

ORPHA:238744

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

ORPHA:247262

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

ORPHA:2407

Limb-mammary syndrome

LMS

ORPHA:69085

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

ORPHA:500135

Odonto-tricho-ungual-digito-palmar syndrome

OTUDP syndrome · Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type

ORPHA:69082

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

ORPHA:3138