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"

12 matching diseasesClear search ×

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

ORPHA:319332

Antenatal multiminicore disease with arthrogryposis multiplex congenita

ORPHA:178148

Arthrochalasia Ehlers-Danlos syndrome

EDS VII · Ehlers-Danlos syndrome type 7

ORPHA:1899

Arthrogryposis multiplex congenita

AMC · Multiple congenital arthrogryposis

ORPHA:1037

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

ORPHA:1150

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

ORPHA:994

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:1145

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

ORPHA:597749

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Alkuraya-Kucinskas syndrome

ORPHA:610569

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

MYBPC1-related autosomal recessive non-lethal AMC syndrome

ORPHA:498693

Neurogenic arthrogryposis multiplex congenita

ORPHA:1143

Sheldon-Hall syndrome

SSH · DA2B

ORPHA:1147