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"

22 matching diseasesClear search ×

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

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

ORPHA:101001

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

ORPHA:404560

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

ORPHA:238744

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

ORPHA:363649

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

Myotonic syndrome

ORPHA:206970

OBSOLETE: Chondrodysplastic malformation syndrome

ORPHA:139015

Spondylodysplastic Ehlers-Danlos syndrome

spEDS · Spondylodysplastic EDS

ORPHA:536471

Therapy related acute myeloid leukemia and myelodysplastic syndrome

Acute myeloid leukemia · AML

ORPHA:86846

Unclassified myelodysplastic syndrome

MDS · Myelodysplastic syndromes

ORPHA:98827

Unclassified myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes

ORPHA:98825