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"

62 matching diseasesClear search ×

OBSOLETE: Acheiria, unilateral

OBSOLETE: Congenital absence of hand, unilateral

ORPHA:295101

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital bilateral absence of vas deferens

Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens

ORPHA:48

Congenital vertical talus, unilateral

ORPHA:295201

Isolated absence/hypoplasia of fingers excluding thumb, unilateral

Isolated congenital adactyly of hand, unilateral · Isolated digits 2-5 hypodactyly, unilateral

ORPHA:973

Isolated acheiria

Isolated congenital absence of hand

ORPHA:294983

Isolated amelia of lower limb

Isolated congenital absence of lower limb

ORPHA:294969

Isolated amelia of upper limb

Isolated congenital absence of upper limb

ORPHA:294967

Isolated apodia

Isolated congenital absence of foot

ORPHA:294986

Isolated congenital adermatoglyphia

Congenital absence of fingerprints · Immigration delay disease

ORPHA:289465

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

ORPHA:294973

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

ORPHA:294988

Isolated partial vaginal agenesis

Congenital absence of vagina

ORPHA:96269

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

ORPHA:93322

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

ORPHA:247775

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

ORPHA:295103

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: Amelia of lower limb, unilateral

ORPHA:295057

OBSOLETE: Amelia of upper limb, unilateral

ORPHA:295053

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

ORPHA:295107

OBSOLETE: Apodia, unilateral

OBSOLETE: Congenital absence of foot, unilateral

ORPHA:295105

OBSOLETE: Brachydactyly of fingers, unilateral

OBSOLETE: Short fingers, unilateral

ORPHA:295128

OBSOLETE: Brachydactyly of toes, unilateral

OBSOLETE: Short toes, unilateral

ORPHA:295132

OBSOLETE: Central polydactyly of fingers, bilateral

OBSOLETE: Mirror hand, bilateral · OBSOLETE: Mesoaxial polydactyly of fingers, bilateral

ORPHA:295173

OBSOLETE: Central polydactyly of fingers, unilateral

OBSOLETE: Mesoaxial polydactyly of fingers, unilateral · OBSOLETE: Mirror hand, unilateral

ORPHA:295171

OBSOLETE: Central polydactyly of toes, unilateral

OBSOLETE: Mirror foot, unilateral · OBSOLETE: Mesoaxial polydactyly of toes, unilateral

ORPHA:295183

OBSOLETE: Congenital absence of both forearm and hand, bilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral

ORPHA:295095

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: Congenital adrenal hypoplasia of maternal cause

ORPHA:95701

OBSOLETE: Congenital entropion

ORPHA:98568

OBSOLETE: Congenital hydromyelia

ORPHA:268874

OBSOLETE: Congenital hydronephrosis

ORPHA:2190

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

ORPHA:168486

OBSOLETE: Congenital patella dislocation, bilateral

ORPHA:295237

OBSOLETE: Congenital patella dislocation, unilateral

ORPHA:295234