Rare Disease Library

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

Moderate and severe traumatic brain injury

Moderate hemophilia A

Moderate congenital factor VIII deficiency · Moderate congenital F8 deficiency

Moderate hemophilia B

Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Moderate multiminicore disease with hand involvement

Moderately-differentiated thymic neuroendocrine carcinoma

MODY

Maturity-onset diabetes of the young

Moebius syndrome

Möbius syndrome

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

Monilethrix

Moniliform hair syndrome

Monoamine oxidase A deficiency

Brunner syndrome

Monoclonal mast cell activation syndrome

Monoclonal MCAD

Monogenic disease with epilepsy

Monomelic amyotrophy

Benign focal amyotrophy · Hirayama disease

Monomorphic epitheliotropic intestinal T-cell lymphoma

MEITL · Enteropathy-associated T-cell lymphoma type 2

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 22 syndrome

Del(22) · Deletion 22

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Monosomy 9q22.3 syndrome

Microdeletion 9q22.3

Monosomy X syndrome

Monostotic fibrous dysplasia

Jaffe-Lichtenstein disease

Moore-Federman syndrome

Dwarfism-stiff joint-ocular abnormalities syndrome

Mooren ulcer

Morgagni-Stewart-Morel syndrome

Hyperostosis frontalis interna

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Morning glory disc anomaly

Morning glory syndrome · Ectasic coloboma

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Mosaic genome-wide paternal uniparental disomy syndrome

Androgenetic/biparental mosaicism · Genome-wide paternal uniparental disomy mosaicism

Mosaic Legius syndrome

Mosaic NF1-like syndrome · Mosaic neurofibromatosis 1-like syndrome

Mosaic monosomy X syndrome

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

Mosaic NF2-related schwannomatosis

Mosaic neurofibromatosis type 2 · Mosaic NF2

Mosaic schwannomatosis

Mosaic SWN · MNF3

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

Mosaic trisomy 10 syndrome

Trisomy 10 mosaicism · Mosaic trisomy chromosome 10

Mosaic trisomy 12 syndrome

Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism

Mosaic trisomy 14 syndrome

Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

Mosaic trisomy 16 syndrome

Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism

Mosaic trisomy 17 syndrome

Trisomy 17 mosaicism · Mosaic trisomy chromosome 17