Rare Disease Library

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"

7 matching diseasesClear search ×

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

ORPHA:381

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

ORPHA:79476

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

ORPHA:79477

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

ORPHA:79478

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

ORPHA:1451

Grisel syndrome

Atlantoaxial non-traumatic subluxation

ORPHA:662255

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

ORPHA:2970