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"

5 matching diseasesClear search ×

Hypohidrotic ectodermal dysplasia with immunodeficiency

HED-ID

ORPHA:98813

Autosomal dominant hypohidrotic ectodermal dysplasia

AD-HED

ORPHA:1810

Autosomal recessive hypohidrotic ectodermal dysplasia

AR-HED

ORPHA:248

Hypohidrotic ectodermal dysplasia

HED

ORPHA:238468

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

OL-HED-ID

ORPHA:69088