- botulism [DOID:11976]
A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F.
- intestinal botulism [DOID:0050141]
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins.
- wound botulism [DOID:0050353]
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins.
- Kenny-Caffey syndrome type 1 [DOID:0080722]
A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.
- foodborne botulism [DOID:0050352]
A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis.
- extrinsic asthma [DOID:0080811]
A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.
- leukocyte adhesion deficiency 2 [DOID:0080492]
A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit.
- familial isolated deficiency of vitamin E [DOID:0090028]
A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
- chromosome 2q37 deletion syndrome [DOID:0111704]
A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.