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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"
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Pilarowski-Bjornsson syndrome
Generalized eruptive keratoacanthoma
GEKA · Generalized eruptive keratoacanthomas of Grzybowski
Laron syndrome
Complete growth hormone insensitivity · GH receptor deficiency
Ophthalmomandibulomelic dysplasia
OMM syndrome · Pillay syndrome
Pierson syndrome
Microcoria-congenital nephrosis syndrome
Posterior cortical atrophy
Benson syndrome · Biparietal Alzheimer disease