Rare Disease Library

Muscular dystrophy-white matter spongiosis syndrome

Muscular glycogenosis

Glycogen storage myopathy

Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome

Muscular lipidosis

Lipid storage myopathy

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

Muscular tumor

Musculocontractural Ehlers-Danlos syndrome

Musculocontractural EDS · mcEDS

Musculoskeletal disease with cataract

Mutilating hereditary sensory neuropathy with spastic paraplegia

Mutilating HSAN with spastic paraplegia

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

MUTYH-related polyposis

MUTYH-related adenomatous polyposis

Myalgia-eosinophilia syndrome associated with tryptophan

Myasthenia gravis

Acquired myasthenia · Autoimmune myasthenia gravis

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

MYBPC1-related autosomal recessive non-lethal AMC syndrome

Mycetoma

Madura foot

Mycophenolate mofetil embryopathy

MMF embryopathy

Mycoplasma encephalitis

Mycosis fungoides and variants

Myelic limited dorsal malformation

MyeLDM

Myelocystocele

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

Myeloid hemopathy

Myeloid sarcoma

Chloroma · Extramedullary myeloid tumor

Myeloid/lymphoid neoplasm associated with JAK2 rearrangement

Myeloid/lymphoid neoplasms with PCM1-JAK2

Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement

Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement

Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

Myeloperoxidase deficiency

MPO deficiency

Myeloproliferative neoplasm

MPD · MPN

Myeloschisis

MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Peripheral neuropathy-myopathy-hoarseness-deafness syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Myiasis

MYO5B-related progressive familial intrahepatic cholestasis

MYO5B deficiency

Myoclonic dystonia 15

DYT15 · Myoclonus-dystonia type 15

Myoclonic epilepsy in non-progressive encephalopathies

Myoclonus epilepsy in non-progressive encephalopathies · Myoclonic status in non-progressive encephalopathies

Myoclonic epilepsy of infancy

Benign myoclonus epilepsy of infancy · Benign myoclonic epilepsy of infancy

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-cerebellar ataxia-hearing loss syndrome

Myoclonus-dystonia syndrome

Alcohol-responsive dystonia · Hereditary essential myoclonus

Myofibrillar myopathy

MFM

Myopathic Ehlers-Danlos syndrome

Myopathic EDS · EDS/myopathy overlap syndrome