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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"
Ulnar-mammary syndrome
Pallister ulnar-mammary syndrome · Schinzel syndrome
Lacrimoauriculodentodigital syndrome
LADD syndrome · LARD syndrome
Limb-mammary syndrome
LMS
Mammary-digital-nail syndrome
MDN syndrome · Onycho-digito-mammary syndrome
Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
Pallister-Killian syndrome
Isochromosome 12p mosaicism · Isochromosome 12p syndrome
W syndrome
Pallister-W syndrome