Rare Disease Library

Menkes disease

Menkes kinky hair disease · MD

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

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Lissencephaly type 2 with muscular and ocular involvement · MDDGA

Congenital muscular dystrophy

CMD · MDC

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Mal de débarquement

Disembarkment syndrome · MdD

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

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

NMDA receptor encephalitis

Limbic encephalitis with NMDA receptor antibodies · Limbic encephalitis with N-methyl-D-aspartate receptor antibodies

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

Epidermolysis bullosa simplex with muscular dystrophy

EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Multiminicore myopathy

MmD · Multiminicore disease

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

SEMD-MD · SEMDJL2