Rare Disease Library

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

Sickle cell disease

HbSS disease · SCD

Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

HbSS disease · SCD

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adiposis dolorosa

Adiposalgia · Adipose tissue rheumatism

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Allergic bronchopulmonary aspergillosis

ABPA · Allergic aspergillosis

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

American trypanosomiasis

Chagas disease

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

Arthrogryposis-anterior horn cell disease syndrome

AAHD · Vuopala disease

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

Behçet disease

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

Best vitelliform macular dystrophy

BMD · BVMD

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Buerger disease

Thromboangiitis obliterans

CADINS disease

CARD11-associated atopy with dominant interference of NF-kB signaling syndrome

Caffey disease

Infantile cortical hyperostosis

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Cap myopathy

Cap disease

Caroli disease

Chylomicron retention disease

Anderson disease · CMRD

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

CLN10 disease

NCL10 · Neuronal ceroid lipofuscinosis type 10

CLN11 disease

Neuronal ceroid lipofuscinosis type 11 · NCL11

CLN12 disease

NCL12 · Neuronal ceroid lipofuscinosis type 12

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

CLN14 disease

Neuronal ceroid lipofuscinosis type 14 · NCL14

CLN2 disease

Neuronal ceroid lipofuscinosis type 2 · NCL2

CLN3 disease

Neuronal ceroid lipofuscinosis type 3

CLN4 disease

NCL4 · Neuronal ceroid lipofuscinosis type 4

CLN5 disease

Neuronal ceroid lipofuscinosis type 5 · NCL5

CLN6 disease

Neuronal ceroid lipofuscinosis type 6 · NCL6

CLN7 disease

Neuronal ceroid lipofuscinosis type 7 · NCL7

CLN8 disease

Neuronal ceroid lipofuscinosis type 8 · NCL8

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

Congenital erythropoietic porphyria

CEP · Günther disease

Congenital factor V deficiency

Owren disease · Parahemophilia

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome