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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"
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Viljoen-Kallis-Voges syndrome
Epidermolysis bullosa simplex with anodontia/hypodontia
Kallin syndrome · EBS with anodontia/hypodontia
Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence
Microcephaly-cardiomyopathy syndrome
Winship-Viljoen-Leary syndrome
MMEP syndrome
MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
Radial ray hypoplasia-choanal atresia syndrome
Goldblatt-Viljoen syndrome