Disease Index
9,486 diseasesmaternally-inherited progressive external ophthalmoplegia
Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page
maternally-inherited spastic paraplegia
human disease
Matthew-Wood syndrome
autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect
maturity-onset diabetes of the young
genetic disease that has material basis in mutations in the MODY genes disrupting insulin production
maturity-onset diabetes of the young type 8
maturity-onset diabetes of the young that has material basis in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13
MeSH: C565225
maturity-onset diabetes of the young type 9
maturity-onset diabetes of the young that has material basis in heterozygous mutation in the PAX4 gene on chromosome 7q32.1
MeSH: C567393
maxillary arteriovenous malformation
human disease
May–Hegglin anomaly
medical condition
ICD: D72.0
Mazabraud syndrome
McCune–Albright syndrome
rare disease
ICD: Q78.1
McDonough syndrome
, cryptorchidism, and a congenital heart defect. Two families have been reported. Autosomal recessive inheritance was suggested.
MeSH: C538158
McGillivray syndrome
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability
MeSH: C566511
McKusick type metaphyseal dysplasia
metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair
MeSH: C535916
McKusick–Kaufman syndrome
McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations
ICD: Q87.8MeSH: C538159
McLeod syndrome
rare disease
MeSH: C564038
MCOPCB1
human disease
MDP syndrome
human disease
Meacham syndrome
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations
Meckel syndrome
a rare, lethal, ciliopathic, genetic disorder with malformations of the urinary system, of central nervous system, hepatic developmental defects, and pulmonary hypoplasia.
Meckel syndrome 13
human disease
Meckel syndrome 8
Meckel syndrome that has material basis in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31
Meckel syndrome type 7
Meckel syndrome that has material basis in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1
MeSH: C537756
meconium aspiration syndrome
Human disease
MeSH: D008471
MECP2 duplication syndrome
Human disease
MeSH: C537723
medial condensing osteitis of the clavicle
human disease
median arcuate ligament syndrome
Human disease
MeSH: D000074742
median cleft lip/mandibule
human disease
median cleft of the upper lip and maxilla
median facial cleft
human disease
median nodule of the upper lip
Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion