Rare Disease Library

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

COL4A1 or COL4A2-related cerebral small vessel disease

COL4A1 or COL4A2-related cerebral angiopathy

COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency

COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency

Congenital achiasma

Congenital autosomal recessive small-platelet thrombocytopenia

CARST

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Cutaneous small vessel vasculitis

Cutaneous hypersensitivity vasculitis

Deafness-small bowel diverticulosis-neuropathy syndrome

Hearing loss-small bowel diverticulosis-neuropathy syndrome · Groll-Hirschowitz syndrome

Desmoplastic small round cell tumor

DSRCT

Disorder of plasmalogens biosynthesis

Extramedullary soft tissue plasmacytoma

Familial paroxysmal ataxia

Episodic ataxia type 2

Generalized epilepsy-paroxysmal dyskinesia syndrome

GEPD

Genetic cerebral small vessel disease

Hereditary sodium channelopathy-related small fibers neuropathy

HTRA1-related autosomal dominant cerebral small vessel disease

HTRA1-related autosomal dominant cerebral angiopathy

HTRA1-related cerebral small vessel disease

HTRA1-related cerebral angiopathy

Idiopathic small fibers neuropathy

Idiopathic-SFN

Isolated small intestine duplication

Leiomyosarcoma of small intestine

Lymphoplasmacytic inflammatory pseudotumor of the liver

IgG4-related inflammatory pseudotumor of the liver

Lymphoplasmacytic lymphoma without IgM production

Lymphoplasmacytic lymphoma without Immunoglobulin M production

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

Meesmann corneal dystrophy

Juvenile hereditary epithelial dystrophy of Meesmann · MECD

Mesenchymal tumor of small intestine

Mesenchymal tumor of small bowel

Mycoplasma encephalitis

Neuroendocrine tumor of the small intestine

NET of the small intestine · Neuroendocrine neoplasm of the small intestine

OBSOLETE: Immunoproliferative small intestinal disease

OBSOLETE: IPSID · OBSOLETE: Mediterranean lymphoma

OBSOLETE: Neuroendocrine tumor of small intestine

OBSOLETE: NET of small intestine

OBSOLETE: Not NOTCH3-related small vessel disease of the brain

OBSOLETE: Small pox

OBSOLETE: Variola

Paroxysmal cold hemoglobinuria

Donath-Landsteiner hemolytic anemia · Donath-Landsteiner syndrome

Paroxysmal dyskinesia

Paroxysmal choreoathetosis · Paroxysmal dystonic choreoathetosis

Paroxysmal dystonia

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

DYT9 · Episodic choreoathetosis/spasticity

Paroxysmal exertion-induced dyskinesia

DYT18 · Dystonia 18

Paroxysmal extreme pain disorder

Familial rectal pain

Paroxysmal hemicrania

Paroxysmal hypnogenic dyskinesia

Nocturnal paroxysmal dystonia · Paroxysmal hypnagogic dyskinesia

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia

Paroxysmal nocturnal hemoglobinuria

Marchiafava-Micheli disease · Marchiafava-Micheli syndrome

Paroxysmal non-kinesigenic dyskinesia

Paroxystic non-kinesigenic choreoathetosis

Plasma cell leukemia

PCL

Plasma cell tumor

Plasmablastic lymphoma

PBL

Plasmacytoma

Solitary plasmacytoma

Predominantly small-vessel vasculitis