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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"
Griscelli syndrome
Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome
Griscelli syndrome type 1
Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome
Griscelli syndrome type 2
Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
Griscelli syndrome type 3
Griscelli-Pruniéras syndrome type 3
CINCA syndrome
IOMID syndrome · Infantile-onset multisystem inflammatory disease
Grisel syndrome
Atlantoaxial non-traumatic subluxation
Prune belly syndrome
Abdominal muscle deficiency syndrome · Eagle-Barret syndrome