Rare Disease Library

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

Acute myeloid leukemia · AML

Acute myeloid leukemia and myelodysplastic syndromes related to radiation

Acute myeloid leukemia · AML

Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

Acute myeloid leukemia · AML

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Dentin dysplasia-sclerotic bones syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Myelodysplastic neoplasm with increased blasts

MDS · MDS with excess blasts

Myelodysplastic neoplasm with increased blasts type 1

MDS · MDS-IB1

Myelodysplastic neoplasm with increased blasts type 2

MDS · MDS-IB2

Myelodysplastic neoplasm with low blasts

MDS · MDS-LB

Myelodysplastic syndrome

MDS · Myelodysplastic syndromes

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

Myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Spondylodysplastic Ehlers-Danlos syndrome

spEDS · Spondylodysplastic EDS

Therapy related acute myeloid leukemia and myelodysplastic syndrome

Acute myeloid leukemia · AML

Unclassified myelodysplastic syndrome

MDS · Myelodysplastic syndromes

Unclassified myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes