Disease Index

opportunistic mycosis that results in systemic fungal infection in immunocompromised people, has material basis in Microsporidia phylum members

This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct

human disease

inflammation of small blood vessels

Human disease

human disease

human disease

neuroendocrine neoplasm that involves the middle ear

Human disease

human disease

medical condition

human disease

Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii

Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities)

Human disease

Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development

Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction

Mild hemophilia B is a form of hemophilia B (see this term) characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction

Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA

Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity

syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has material basis in variation in chromosomal region Xq13-q22

Guillain-Barre syndrome that manifests as a descending paralysis

human disease

syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients

a severe neurological disease caused by mercury poisoning, first discovered in the Japanese city of Minamata.

acquired metabolic disease that is characterized by abnormal mineral metabolism