Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

23 matching diseasesClear search ×

Therapy related acute myeloid leukemia and myelodysplastic syndrome

Acute myeloid leukemia · AML

ORPHA:86846

Acute myeloid leukaemia with myelodysplasia-related features

AML with multilineage dysplasia · Acute myeloid leukemia with multilineage dysplasia

ORPHA:86845

Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

Acute myeloid leukemia · AML

ORPHA:102379

Acute myeloid leukemia and myelodysplastic syndromes related to radiation

Acute myeloid leukemia · AML

ORPHA:164726

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

Acute myeloid leukemia · AML

ORPHA:102381

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

ORPHA:231401

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS

ORPHA:536467

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

EDS with short stature and limb anomalies · EDS progeroid type 1

ORPHA:75496

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

ORPHA:98609

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

ORPHA:1456

Myelodysplastic neoplasm with increased blasts

MDS · MDS with excess blasts

ORPHA:86839

Myelodysplastic neoplasm with increased blasts type 1

MDS · MDS-IB1

ORPHA:100019

Myelodysplastic neoplasm with increased blasts type 2

MDS · MDS-IB2

ORPHA:100020

Myelodysplastic neoplasm with low blasts

MDS · MDS-LB

ORPHA:98826

Myelodysplastic syndrome

MDS · Myelodysplastic syndromes

ORPHA:52688

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

5q- syndrome · MDS

ORPHA:86841

Myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes

ORPHA:98275

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

ORPHA:182050

Noonan syndrome and Noonan-related syndrome

ORPHA:98733

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

ORPHA:660021

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SCD-EDS · SLC39A13-related spEDS

ORPHA:157965

Unclassified myelodysplastic syndrome

MDS · Myelodysplastic syndromes

ORPHA:98827

Unclassified myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes

ORPHA:98825