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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"
SIX2-related frontonasal dysplasia
SIX2-related FND
Frontonasal dysplasia-alopecia-genital anomalies syndrome
ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism
MGP-related spondyloepiphyseal dysplasia
MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome
SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS