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"

15 matching diseasesClear search ×

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

ORPHA:79395

Autosomal ichthyosis syndrome

ORPHA:281217

Autosomal ichthyosis syndrome with fatal disease course

ORPHA:281241

Autosomal ichthyosis syndrome with other associated signs

ORPHA:281244

Autosomal ichthyosis syndrome with prominent hair abnormalities

ORPHA:281222

Autosomal ichthyosis syndrome with prominent neurologic signs

ORPHA:281238

Congenital reticular ichthyosiform erythroderma

CRIE · IWC

ORPHA:281190

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

ORPHA:1981

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

ORPHA:91132

Ichthyosis-male hypogonadism syndrome

ORPHA:431

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

ORPHA:88621

Inherited non-syndromic ichthyosis

ORPHA:281082

Keratoderma hereditarium mutilans

Mutilating keratoderma plus hearing loss · Mutilating keratoderma of Vohwinkel

ORPHA:494

Syndromic recessive X-linked ichthyosis

Syndromic RXLI · Recessive X-linked ichthyosis with extracutaneous manifestations

ORPHA:281090

X-linked ichthyosis syndrome

ORPHA:281210