Rare Disease Library

Lassa fever

LF · Lassa hemorrhagic fever

Acral self-healing collodion baby

Acral SHCB

Anorectal malformation

ARM

Aortic malformation

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

ARX-related encephalopathy-brain malformation spectrum

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

Biliary atresia with splenic malformation syndrome

BASM syndrome

Biliary tract malformation-renal failure syndrome

Cholestatic jaundice-renal tubular insufficiency syndrome · Lutz-Richner-Landolt syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Brain arteriovenous malformation

Cerebral arteriovenous malformation

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

Bronchial malformation

Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy

Mild calf-predominant myopathy

Capillary malformation-arteriovenous malformation

CM-AVM

Capillary-lymphatic-venous malformation with segmental distribution

CLVM with segmental distribution · Klippel-Trénaunay syndrome

Central nervous system cystic malformation

Central nervous system malformation

Cerebellar malformation

Cerebral malformation with epilepsy

Cernunnos-XLF deficiency

Cernunnos XLFD · Cernunnos deficiency

Cochleovestibular malformation

Common cystic lymphatic malformation

Communicating congenital bronchopulmonary-foregut malformation

Complex vascular malformation with associated anomalies

Hemangiolymphangioma

Conductive deafness-malformed external ear syndrome

Conductive hearing loss-malformed external ear syndrome · Mengel-Konigsmark syndrome

Congenital disorder of glycosylation with cardiac malformation as a major feature

CDG with cardiac malformation as a major feature

Congenital enterocyte heparan sulfate deficiency

Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

Congenital limb malformation

Congenital malformation of the eye with glaucoma as a major feature

Congenital malformation of the eyelid

Congenital mitral malformation

Congenital pulmonary airway malformation

CCAM · CPAM

Congenital pulmonary airway malformation type 0

CPAM type 0 · Congenital cystic adenomatoid malformation of the lung type 0

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Congenital pulmonary airway malformation type 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

Congenital thyroid malformation without hypothyroidism

Congenital tricuspid malformation

Congenitally uncorrected transposition of the great arteries with cardiac malformation

Congenitally uncorrected transposition of the great vessels with cardiac malformation · TGA with cardiac malformation

Conotruncal heart malformations

Coronary artery congenital malformation

Cranial malformation

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ERF-related syndromic craniosynostosis