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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"
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
HPPD · Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
De Hauwere syndrome
De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome
Deafness-hypogonadism syndrome
Hearing loss-hypogonadism syndrome
Donnai-Barrow syndrome
DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Hypospadias-hypertelorism-coloboma and deafness syndrome
Hypospadias-hypertelorism-coloboma and hearing loss syndrome