Rare Disease Library

Primary lateral sclerosis

Adult-onset PLS · Adult-onset primary lateral sclerosis

Primary lipodystrophy

Primary localized amyloidosis

Localized AL amyloidosis

Primary lymphedema

Primary lymphedema with systemic or visceral involvement

Primary lymphedema without systemic or visceral involvement

Primary lymphoma of the conjunctiva

Primary lymphoid conjunctival tumor

Primary malignant peritoneal tumor

Primary mediastinal large B-cell lymphoma

Large cell lymphoma of the mediastinum · Med-DLBCL

Primary megaureter, adult-onset form

Primary melanocytic tumor of central nervous system

Primary melanocytic lesion of CNS · Primary melanocytic lesion of central nervous system

Primary melanoma of the central nervous system

Primary melanoma of the CNS · Malignant melanoma of meninges

Primary membranoproliferative glomerulonephritis

Mesangiocapillary glomerulonephritis · Primary MPGN

Primary membranous glomerulonephritis

Primary membranous nephropathy · Idiopathic membranous glomerulonephritis

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

Primary myelofibrosis

Agnogenic myeloid metaplasia · Idiopathic myelofibrosis

Primary myoclonus

Primary non-essential cutis verticis gyrata

Primary non-gestational choriocarcinoma of ovary

NGCO · Primary non-gestational ovarian choriocarcinoma

Primary oculocerebral lymphoma

Primary oculocerebral non-Hodgkin lymphoma

Primary organ-specific lymphoma

Primary orthostatic disorder

Primary orthostatic hypotension

Primary orthostatic tremor

POT

Primary osteolysis

Primary pediatric heart tumor

Cardiac tumor of child · Heart tumor of child

Primary pericardial mesothelioma

Primary malignant pericardial mesothelioma · PPM

Primary peritoneal tumor

Primary plasmacytoma of the bone

Primary polyarteritis nodosa

Primary PAN · Primary periarteritis nodosa

Primary progressive aphasia

Mesulam syndrome · PPA

Primary progressive apraxia of speech

PPAOS

Primary progressive freezing gait

PPFG

Primary pulmonary hypoplasia

Primary pulmonary lymphoma

Primary pulmonary tuberculosis

Tuberculosis of respiratory system

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

Primary qualitative or quantitative defects of alpha-dystroglycan

Primary alpha-dystroglycanopathy · Primary dystroglycanopathy

Primary renal tubular acidosis

Primary sclerosing cholangitis

PSC

Primary short bowel syndrome

Primary Sjögren disease

Primary Sjögren syndrome · Primary SjD

Primary superior vena cava aneurysm

SVCA

Primary syringomyelia

Congenital syringomyelia

Primary systemic amyloidosis

Systemic AL amyloidosis

Primary tethered cord syndrome

Primary tethered spinal cord syndrome

Primary triglyceride deposit cardiomyovasculopathy

Primary neutral lipid storage disease with severe cardiovascular involvement · P-TGCV