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"

23 matching diseasesClear search ×

OBSOLETE: Split hand

OBSOLETE: Ectrodactyly of hand

ORPHA:294992

OBSOLETE: Split hand, bilateral

OBSOLETE: Ectrodactyly of hand, bilateral

ORPHA:295122

OBSOLETE: Split hand, unilateral

OBSOLETE: Ectrodactyly of hand, unilateral

ORPHA:295120

Isolated split hand-split foot malformation

Ectrodactyly · SHFM

ORPHA:2440

Macrodactyly of fingers

Macrodactyly of hand

ORPHA:295044

Macrodactyly of fingers, bilateral

Macrodactyly of hand, bilateral

ORPHA:295241

Macrodactyly of fingers, unilateral

Macrodactyly of hand, unilateral

ORPHA:295239

OBSOLETE: Adactyly of foot

OBSOLETE: Congenital absence of toes

ORPHA:435623

OBSOLETE: Adactyly of foot, bilateral

OBSOLETE: Congenital absence of toes, bilateral

ORPHA:295118

OBSOLETE: Adactyly of foot, unilateral

OBSOLETE: Congenital absence of toes, unilateral

ORPHA:295116

OBSOLETE: Adactyly of hand

OBSOLETE: Fingers absent

ORPHA:294931

OBSOLETE: Brachydactyly

ORPHA:294937

OBSOLETE: Brachydactyly of fingers

OBSOLETE: Short fingers

ORPHA:294996

OBSOLETE: Brachydactyly of toes

OBSOLETE: Short toes

ORPHA:294998

OBSOLETE: Central polydactyly of toes

OBSOLETE: Mirror foot · OBSOLETE: Central polydactyly of foot

ORPHA:295010

OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb

OBSOLETE: Digits 2-5 hypodactyly · OBSOLETE: Digits 2-5 oligodactyly

ORPHA:294990

OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral

OBSOLETE: Adactyly of hand, bilateral · OBSOLETE: Digits 2-5 hypodactyly, bilateral

ORPHA:295114

OBSOLETE: Postaxial polydactyly of fingers

OBSOLETE: Postaxial polydactyly of hand

ORPHA:294942

OBSOLETE: Postaxial polydactyly of toes

OBSOLETE: Postaxial polydactyly of foot

ORPHA:295008

OBSOLETE: Preaxial polydactyly of fingers

OBSOLETE: Preaxial polydactyly of hand

ORPHA:294939

OBSOLETE: Preaxial polydactyly of toes

OBSOLETE: Bifid great toes · OBSOLETE: Preaxial polydactyly of foot

ORPHA:295006

OBSOLETE: Symbrachydactyly of hand and foot, bilateral

ORPHA:295138

OBSOLETE: Symbrachydactyly of hand and foot, unilateral

ORPHA:295136