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"

6 matching diseasesClear search ×

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

ORPHA:139

Adams-Oliver syndrome

AOS · Congenital scalp defects with distal limb anomalies

ORPHA:974

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

ORPHA:312

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

ORPHA:708019

Congenital ichthyosiform erythroderma

CIE · Erythrodermic ichthyosis

ORPHA:79394

Congenital reticular ichthyosiform erythroderma

CRIE · IWC

ORPHA:281190