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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"
Hemoglobin Bart's fetalis syndrome
Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major
Barth syndrome
3-methylglutaconic aciduria type 2 · BTHS
Bartter syndrome
Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type
Fetal hydantoin syndrome
Fetal dihydantoin syndrome · Phenytoin embryofetopathy
Fetal iodine syndrome
Hydrops fetalis
Fetal anasarca · Fetal hydrops
Immune hydrops fetalis
IHF · Immune HF
Non-immune hydrops fetalis
Non-immune HF · Non-immune fetal edema
Robinow syndrome
Acral dysostosis with facial and genital abnormalities · Fetal face syndrome