Rare Disease Library

Mosaic trisomy 2 syndrome

Trisomy 2 mosaicism · Mosaic trisomy chromosome 2

Mosaic trisomy 20 syndrome

Trisomy 20 mosaicism · Mosaic trisomy chromosome 20

Mosaic trisomy 22 syndrome

Mosaic trisomy chromosome 22 · Trisomy 22 mosaicism

Mosaic trisomy 3 syndrome

Trisomy 3 mosaicism · Mosaic trisomy chromosome 3

Mosaic trisomy 4 syndrome

Mosaic trisomy chromosome 4 · Trisomy 4 mosaicism

Mosaic trisomy 5 syndrome

Trisomy 5 mosaicism · Mosaic trisomy chromosome 5

Mosaic trisomy 7 syndrome

Mosaic trisomy chromosome 7 · Trisomy 7 mosaicism

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

Mosaic trisomy 9 syndrome

Mosaic trisomy chromosome 9 · Trisomy 9 mosaicism

Mosaic variegated aneuploidy syndrome

Warburton-Anyane-Yeboa syndrome

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

Motor stereotypies

Mounier-Kühn syndrome

Congenital tracheobronchomegaly · Idiopathic tracheobronchomegaly

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Mowat-Wilson syndrome due to a ZEB2 point mutation

Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

Mowat-Wilson syndrome due to monosomy 2q22

Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22)

Moyamoya angiopathy

Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism

Moyamoya disease

Idiopathic Moyamoya disease

Moyamoya disease with early-onset achalasia

Moynahan syndrome

Alopecia-epilepsy-intellectual disability syndrome, Moynahan type

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

MRCS syndrome

Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome

MSH3-related polyposis

MSH3-related adenomatous polyposis

MT-ATP6-related mitochondrial spastic paraplegia

Maternally-inherited spastic paraplegia · Maternally-inherited SPG

MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome

Mu-heavy chain disease

mu-HCD

MUC1-related autosomal dominant tubulointerstitial kidney disease

MUC1-related medullary cystic kidney disease · MUCI-related ADTKD

Mucinous adenocarcinoma of ovary

Ovarian mucinous adenocarcinoma

Mucinous adenocarcinoma of the appendix

Appendiceal mucinous adenocarcinoma

Mucinous cystadenocarcinoma of the pancreas

Pancreatic mucinous cystadenocarcinoma

Mucinous cystadenoma of childhood

Mucinous cystadenoma of ovary in childhood

Mucinous tubular and spindle cell renal carcinoma

Muckle-Wells syndrome

Neutrophilic urticaria

Mucocutaneous venous malformations

Cutaneous and mucosal venous malformation · VMCM

Mucolipidosis

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Mucolipidosis type III

Pseudo-Hurler polydystrophy

Mucolipidosis type III alpha/beta

ML 3 alpha/beta · ML III alpha/beta

Mucolipidosis type III gamma

ML 3 gamma · ML III gamma

Mucolipidosis type IV

Mucopolysaccharidosis

Mucopolysaccharidosis type 10

Mucopolysaccharidosis type X · MSP type X

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Mucopolysaccharidosis type 3

MPS3 · MPSIII