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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"
Spondyloepimetaphyseal dysplasia, matrilin-3 type
SEMD, MATN3-related · SEMD, matrilin-3 type
Spondyloepimetaphyseal dysplasia, Irapa type
SEMD, Irapa type
Spondyloepimetaphyseal dysplasia, Maroteaux type
Pseudo-Morquio syndrome type 2 · SEMD-M
Spondyloepimetaphyseal dysplasia, Missouri type
SEMD type 2 · SEMD, Missouri type
Spondyloepimetaphyseal dysplasia, Shohat type
SEMD, Shohat type