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"

8 matching diseasesClear search ×

Autosomal recessive cutis laxa type 2

Cutis laxa with joint laxity and developmental delay · ARCL2

ORPHA:90350

Autosomal recessive cutis laxa type 2, classic type

ARCL2, Debré type · ARCL2, classic type

ORPHA:357074

Autosomal recessive cutis laxa type 2A

ARCL2A

ORPHA:357058

Autosomal recessive cutis laxa type 2B

ARCL2, progeroid type · ARCL2B

ORPHA:357064

Autosomal recessive cerebellar ataxia

ARCA

ORPHA:1172

Autosomal recessive congenital ichthyosis

ARCI

ORPHA:281097

Autosomal recessive cutis laxa type 1

ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement

ORPHA:90349

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

ORPHA:221145