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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Harlequin ichthyosis
HI · Ichthyosis congenita, Harlequin type
Autosomal ichthyosis syndrome
Autosomal recessive congenital ichthyosis
ARCI
Ichthyosis-hypotrichosis syndrome
Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome
Ichthyosis-prematurity syndrome
Congenital ichthyosis type 4 · IPS
Self-improving collodion baby
Self-healing collodion baby · SHCB