Rare Disease Library

Paramedian facial cleft

Tessier number 1-1 and 2-12 facial cleft

Paramedian nasal cleft

Isolated cleft of the ala nasi · Alar cleft

Pineal parenchymal tumor of intermediate differentiation

PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement

PLEC-related intermediate EBS without extracutaneous involvement

Posterior extramedullary conus spinal cord lipoma

Predominantly medium-vessel vasculitis

Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma

PRKAR1B-related neurodegenerative dementia with intermediate filaments

Pulmonary fungal infections in patients deemed at risk

Rare genetic medullar disease

Rare intoxication due to medical products

Renal medullary carcinoma

Respiratory or mediastinal malformation

Retained medullary cord

Segmental arterial mediolysis

Severe immune-mediated enteropathy

Autoimmune enteropathy · Immune-mediated protracted diarrhea of infancy

Syndromic respiratory or mediastinal malformation

Terminal extramedullary conus spinal cord lipoma

Toxin-mediated infectious botulism

Toxin-mediated infective botulism

Transitional extramedullary conus spinal cord lipoma