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"

16 matching diseasesClear search ×

Distal arthrogryposis type 5D

DA5D · Distal arthrogryposis type 5 without ophthalmoparesis

ORPHA:329457

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Distal arthrogryposis type 5 · Distal arthrogryposis type IIB

ORPHA:1154

Arthrogryposis multiplex congenita

AMC · Multiple congenital arthrogryposis

ORPHA:1037

Arthrogryposis syndrome

ORPHA:109007

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Distal arthrogryposis type 6 · Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

ORPHA:1144

Arthrogryposis-severe scoliosis syndrome

Distal arthrogryposis type 4 · Distal arthrogryposis type IID

ORPHA:65720

Autosomal dominant multiple pterygium syndrome

Distal arthrogryposis type 8

ORPHA:65743

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

ORPHA:115

Distal arthrogryposis

ORPHA:97120

Distal arthrogryposis type 1

Digitotalar dysmorphism · DA1

ORPHA:1146

Distal arthrogryposis type 10

DA10 · Plantar flexion contracture

ORPHA:251515

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

ORPHA:2053

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

ORPHA:376

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:1145

Sheldon-Hall syndrome

SSH · DA2B

ORPHA:1147

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

ORPHA:3377