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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"
Isolated anal canal duplication
ACD
Alopecia-contractures-dwarfism-intellectual disability syndrome
ACD-intellectual disability syndrome
Congenital alveolar capillary dysplasia
ACDMPV · Alveolar capillary dysplasia with misalignment of pulmonary veins
Spondyloepiphyseal dysplasia, MacDermot type
Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome · Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome