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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"
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Macroblepharon-ectropion-hypertelorism-macrostomia syndrome
Ablepharon macrostomia syndrome
AMS
Barber-Say syndrome
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
7q36.3 microduplication syndrome · Dup(7)(q36.3)
Opitz GBBB syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome
SPECC1L-related hypertelorism syndrome
Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome