Rare Disease Library

Coronary ostial stenosis or atresia

COSA · Congenital stenosis or atresia of a coronary ostium

Glossopalatine ankylosis

Cosack syndrome

Adult polyglucosan body disease

APBD

Aspartylglucosaminuria

Aspartylglucosaminidase deficiency

Congenital enteropathy involving intestinal mucosa development

Disorder of fucoglycosan synthesis

Malignant melanoma of the mucosa

Polyglucosan body myopathy type 1

PGBM1

Polyglucosan body myopathy type 2

Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -

Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase

Qualitative or quantitative defects of protein POMGNT1

Rare developmental defect with skin/mucosae involvement

Rare mucosal lichen planus

Rare mucosal LP

Submucosal cleft palate

Childhood-onset schizophrenia

COS · Very early-onset schizophrenia