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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"
Tel Hashomer camptodactyly syndrome
Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Goodman camptodactyly
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
SAMS syndrome