- organophosphate-induced delayed polyneuropathy [DOID:0081393]
An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits.
- systemic scleroderma [DOID:418]
A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.
- Gilbert syndrome [DOID:2739]
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
- orofaciodigital syndrome X [DOID:0060380]
An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.
- hypomyelinating leukodystrophy 7 [DOID:0060794]
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
- mulibrey nanism [DOID:0050436]
A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
- pervasive developmental disorder [DOID:0060040]
A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
- Werner syndrome [DOID:5688]
A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.
- viral pneumonia [DOID:10533]
A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.