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 ×

Self-improving collodion baby

Self-healing collodion baby · SHCB

ORPHA:281122

Autosomal recessive congenital ichthyosis

ARCI

ORPHA:281097

Congenital ichthyosiform erythroderma

CIE · Erythrodermic ichthyosis

ORPHA:79394

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital ptosis

ORPHA:91411

Harlequin ichthyosis

HI · Ichthyosis congenita, Harlequin type

ORPHA:457

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ORPHA:453

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

ORPHA:91132

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

ORPHA:88621

OBSOLETE: Congenital cataract-ichthyosis syndrome

ORPHA:1376

Self-improving dystrophic epidermolysis bullosa

Self-improving DEB · Transient bullous dermolysis of the newborn

ORPHA:79411