Rare Disease Library

Cryptogenic organizing pneumonia

COP · Bronchiolitis obliterans organizing pneumonia

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

COASY protein-associated neurodegeneration

CoPAN · NBIA6

Progressive non-infectious anterior vertebral fusion

PAVF · Copenhagen syndrome

Pulverulent cataract

Dusty cataract · Coppock-like cataract

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal CMT due to copper metabolism defect

Bleeding diathesis due to glycoprotein VI deficiency

Disorder of copper metabolism

Familial benign copper deficiency

Familial benign hypocupremia

Glycoproteinosis

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hereditary coproporphyria

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Hereditary thrombophilia due to congenital HRG deficiency

Idiopathic copper-associated cirrhosis

Non-Wilsonian hepatic copper toxicosis of infancy and childhood

Invasive scopulariopsis infection

Microscopic polyangiitis

MPA · Micropolyangiitis

Mucopolysaccharidosis

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Mucopolysaccharidosis type 10

Mucopolysaccharidosis type X · MSP type X

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Mucopolysaccharidosis type 3

MPS3 · MPSIII

Mucopolysaccharidosis type 4

MPS4 · MPSIV

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Mucopolysaccharidosis type 6, rapidly progressing

Arylsulfatase B deficiency, rapidly progressing · MPS6, rapidly progressing

Mucopolysaccharidosis type 6, slowly progressing

Arylsulfatase B deficiency, slowly progressing · MPS6, slowly progressing

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Mucopolysaccharidosis with skin involvement

MPS with skin involvement

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Mucopolysaccharidosis-like plus disease

Mycophenolate mofetil embryopathy

MMF embryopathy

Mycoplasma encephalitis

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV · OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations

OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect

OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect

OBSOLETE: Coppock-like cataract

OBSOLETE: Microscopic colitis

Vacuolar myopathy with sarcoplasmic reticulum protein aggregates

Vacuolar aggregate myopathy · Myopathy due to calsequestrin and SERCA1 protein overload

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

Stoll-Kieny-Dott syndrome