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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"
Osteopetrosis-hypogammaglobulinemia syndrome
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7
Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis