Disease Index

human disease

Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding

lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting

syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22

inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein

congenital disorder of urinary system

infratentorial cancer located in the lower part of the brain, a type of primitive neuroectodermal tumor

Human disease

type of corneal dystrophy and a keratin disease

human disease

human disease

rare disease

hereditary CNS demyelinating disease

neurodevelopmental disorder characterized by abnormally large brain.

corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure

medical condition

human disease

autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae

medical condition

cranio-facial dystonia that is accompanied by blepharospasm

characterized by pleural effusion, ascites and non-malignant ovarian neoplasm

Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term)

one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary optic neuropathy

Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.

human disease

rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip - cheilitis granulomatosis) and the development of folds and furrows in the tongue (fissured tongue)

congenital disorder that affects primarily bone development.

osteosclerosis that has material basis in a mutation of the LEMD3 gene which results in a hyperdense bony cortex