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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"
Cerebral gigantism-jaw cysts syndrome
Cramer-Niederdellmann syndrome
Corpus callosum agenesis-neuronopathy syndrome
Andermann syndrome · Charlevoix disease
Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence
L1 syndrome
CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
Wiedemann-Steiner syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome