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"

11 matching diseasesClear search ×

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

ORPHA:79478

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

ORPHA:166100

Bartter syndrome type 3

Bartter syndrome type III

ORPHA:93605

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

ORPHA:1451

Cockayne syndrome type 3

Cockayne syndrome type III

ORPHA:90324

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

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

ORPHA:101090

Pfeiffer syndrome type 3

ORPHA:93260

Usher syndrome type 3

USH3

ORPHA:231183