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"

68 matching diseasesClear search ×

OBSOLETE: Congenital absence of both forearm and hand, unilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral

ORPHA:295093

OBSOLETE: Congenital absence of both lower leg and foot, bilateral

OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral

ORPHA:295099

OBSOLETE: Congenital absence of both lower leg and foot, unilateral

OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral

ORPHA:295097

OBSOLETE: Congenital absence of the eyebrow/eyelashes

ORPHA:98598

OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral

ORPHA:295091

OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral

ORPHA:295089

OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral

ORPHA:295087

OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral

ORPHA:295085

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: Congenital absence/hypoplasia of thumb, bilateral

OBSOLETE: Thumb hypodactyly, bilateral · OBSOLETE: Thumb oligodactyly, bilateral

ORPHA:295112

OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral

OBSOLETE: Thumb hypodactyly, unilateral · OBSOLETE: Thumb oligodactyly, unilateral

ORPHA:295110

OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells

ORPHA:101978

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

ORPHA:1235

Perioral myoclonia with absences

POMA

ORPHA:139426

Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

ORPHA:228396

Rabson-Mendenhall syndrome

ORPHA:769

Short tarsus-absence of lower eyelashes syndrome

Lopes-Gorlin syndrome

ORPHA:2832

Taurodontia-absent teeth-sparse hair syndrome

ORPHA:2731

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320