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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"
Combined immunodeficiency due to LCK deficiency
CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency
EBV-induced lymphoproliferative disease due to PRKCD deficiency
EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA deficiency · SCID due to adenosine deaminase deficiency