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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"
Leukocyte adhesion deficiency type II
CDG syndrome type IIc · CDG-IIc
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
SLC35A3-CDG
Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis · SLC35D1-CDG
SLC35A1-CDG
CDG syndrome type IIf · CDG-IIf
SLC35A2-CDG
CDG syndrome type IIm · CDG-IIm
SLC39A8-CDG
SLC39A8 deficiency · Congenital disorder of glycosylation type IIn