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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"
Proximal renal tubular acidosis
Renal tubular acidosis type 2 · pRTA
Autosomal dominant proximal renal tubular acidosis
AD pRTA
Autosomal recessive proximal renal tubular acidosis
AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
Pituitary resistance to thyroid hormone
PRTH · Selective pituitary resistance to thyroid hormone