Disease Index

autosomal recessive disease characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2

medical condition

rare nonhereditary sporadic disorder

human disease

Human disease

Human disease

medical condition

physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac

human disease

human disease

Human disease

human helminthiasis

viruses that can cause cancer

human disease

neoplasm involving a UBERON:0002283

human disease

human disease

human disease

human disease

human disease

Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms

Human disease

human disease

acute medical condition due to excessive use of opioids and related substance

monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism

rare disease

disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances