Rare Disease Library

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

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

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

DICER1 tumor-predisposition syndrome

PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Epidermal nevus syndrome

Epidermal hamartoma syndrome

Familial chylomicronemia syndrome

Familial episodic pain syndrome

FEPS

Familial monosomy 7 syndrome

Familial scaphocephaly syndrome

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

Linear nevus sebaceus syndrome

Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

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

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

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome