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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"
Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
ANE syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
Deaf blind hypopigmentation syndrome, Yemenite type
Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome
Micro syndrome
WARBM · Warburg micro syndrome
Mosaic trisomy 8 syndrome
Warkany syndrome · Trisomy 8 mosaicism
Schwartz-Jampel syndrome
Aberfeld syndrome · Burton skeletal dysplasia
Walker-Warburg syndrome
HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome