Rare Disease Library

Multiple endocrine neoplasia type 4

MEN4

Multiple epiphyseal dysplasia

MED · EDM

Multiple epiphyseal dysplasia and pseudoachondroplasia

Multiple epiphyseal dysplasia due to collagen 9 anomaly

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

Multiple epiphyseal dysplasia type 7

MED7 · EDM7

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

Multiple epiphyseal dysplasia-miniepiphyses syndrome

Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome

Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia-myopia-hearing loss syndrome · Multiple epiphyseal dysplasia-myopia-deafness syndrome

Multiple epiphyseal dysplasia, Lowry type

Multiple epiphyseal dysplasia with Robin phenotype

Multiple evanescent white dot syndrome

MEWDS

Multiple metaphyseal dysplasia

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

Multiple mitochondrial dysfunctions syndrome

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

Multiple mitochondrial dysfunctions syndrome type 2

BOLA3 deficiency · MMDS2

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 4

MMDS4

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

Multiple mitochondrial dysfunctions syndrome type 6

PMPCB deficiency

Multiple myeloma

Kahler disease · Medullary plasmacytoma

Multiple non-ossifying fibromatosis

Jaffe-Campanacci syndrome

Multiple osteochondromas

Bessel-Hagen disease · Multiple cartilaginous exostoses

Multiple paragangliomas associated with polycythemia

Multiple paragangliomas associated with erythrocytosis · Paraganglioma-somatostatinoma-polycythemia syndrome

Multiple polyglandular tumor

Multiple pterygium syndrome

Multiple pterygium syndrome, Aslan type

Multiple pterygium-malignant hyperthermia syndrome

Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome

Multiple sclerosis variant

Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

Multiple self-healing squamous epithelioma

Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Multiple system atrophy

MSA · Multisystem atrophy

Multiple system atrophy, cerebellar type

MSA, cerebellar type · MSA-c

Multiple system atrophy, parkinsonian type

MSA, parkinsonian type · MSA-p

Multisystem inflammatory syndrome in children and adults

MIS-C/A

Multisystem Langerhans cell histiocytosis

Multisystem Langerhans cell granulomatosis · Multisystem histiocytosis X

Multisystemic smooth muscle dysfunction syndrome

Murine typhus

Endemic typhus · Flea-borne typhus

Muscle filaminopathy

FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

MEB disease with bilateral multicystic leucodystrophy

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Furukawa-Takagi-Nakao syndrome

Muscular channelopathy