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 ×

OBSOLETE: Brachydactyly of fingers

OBSOLETE: Short fingers

ORPHA:294996

OBSOLETE: Brachydactyly of fingers, bilateral

OBSOLETE: Short fingers, bilateral

ORPHA:295130

OBSOLETE: Brachydactyly of fingers, unilateral

OBSOLETE: Short fingers, unilateral

ORPHA:295128

OBSOLETE: Adactyly of hand

OBSOLETE: Fingers absent

ORPHA:294931

OBSOLETE: Atypical teratoid/rhabdoid tumor

OBSOLETE: AT/RT

ORPHA:251891

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

ORPHA:100990

OBSOLETE: Brachydactyly of toes

OBSOLETE: Short toes

ORPHA:294998

OBSOLETE: Brachydactyly of toes, bilateral

OBSOLETE: Short toes, bilateral

ORPHA:295134

OBSOLETE: Brachydactyly of toes, unilateral

OBSOLETE: Short toes, unilateral

ORPHA:295132

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

ORPHA:99763

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 · OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene

ORPHA:99764

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

ORPHA:99654

OBSOLETE: Postaxial polydactyly of fingers

OBSOLETE: Postaxial polydactyly of hand

ORPHA:294942

OBSOLETE: Preaxial polydactyly of fingers

OBSOLETE: Preaxial polydactyly of hand

ORPHA:294939

OBSOLETE: Solitary median maxillary central incisor syndrome

OBSOLETE: SMMCI · OBSOLETE: Single upper central incisor

ORPHA:2286