Rare Disease Library

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Pseudoaminopterin syndrome

ASSA · Aminopterin syndrome-like sine aminopterin

Acquired cystic disease-associated renal cell carcinoma

Kidney cancer · RCC

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Hemophagocytic lymphohistiocytosis · HLH

Acquired monoclonal Ig light chain-associated Fanconi syndrome

Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome · Acquired Fanconi syndrome secondary to monoclonal gammopathy

Actinomyopathy-associated syndromic thrombocytopenia

ACTB-AST

Alpha-thalassemia

Alpha-thalassemia and related disorders

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

Anti-neutrophil cytoplasmic antibody-associated vasculitis

AAV · ANCA-associated vasculitis

Atypical pantothenate kinase-associated neurodegeneration

NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

APLAID

Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

Autosomal ichthyosis syndrome with other associated signs

Autosomal recessive cutis laxa type 2, classic type

ARCL2, Debré type · ARCL2, classic type

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature

Autosomal recessive secondary polycythemia not associated with VHL gene

Autosomal recessive secondary erythrocytosis not associated with VHL gene · Autosomal recessive secondary erythrocytosis, non-Chuvash type

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

Beta-thalassemia

Beta-thalassemia and related disorders

Beta-thalassemia associated with another hemoglobin anomaly

Beta-thalassemia associated with another Hb anomaly

Beta-thalassemia intermedia

Non-transfusion dependent beta-thalassemia · Beta-NTDT

Beta-thalassemia major

Cooley anemia · Mediterranean anemia

Beta-thalassemia-trichothiodystrophy syndrome

Beta-thalassemia-X-linked thrombocytopenia syndrome

XLTT

Bilateral massive adrenal hemorrhage

BMAH · Bilateral adrenal hemorrhage

Biliary atresia and associated disorders

Breast implant-associated anaplastic large cell lymphoma

Breast implant-associated ALCL · Seroma-associated ALCL

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

CAR T cell therapy-associated cytokine release syndrome

CAR T cell therapy-associated CRS · Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

Chronic enteropathy associated with SLCO2A1 gene

CEAS

Chronic myeloproliferative disease, unclassifiable

CMPD-U · Undifferentiated myeloproliferative disease

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Classic bladder exstrophy

Classic exstrophy of the bladder

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Classic 21-OHD CAH

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic 21-OHD CAH, salt wasting form

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Classic 21-OHD CAH, simple virilizing form

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Classic hairy cell leukemia

HCL-C · Leukemic reticuloendotheliosis

Classic heparin-induced thrombocytopenia

Classic heparin-associated thrombocytopenia · Classic HAT

Classic Hodgkin lymphoma

Classic Hodgkin disease