All terms in DOID

Label Id Description
Hortaea werneckii NCBITaxon_91943
Charcot-Marie-Tooth disease type 2I DOID_0110158 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.]
combined oxidative phosphorylation deficiency 27 DOID_0111489 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34.]
Charcot-Marie-Tooth disease type 2A2A DOID_0110155 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.]
combined oxidative phosphorylation deficiency 3 DOID_0111486 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.]
Charcot-Marie-Tooth disease type 2B1 DOID_0110156 [A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.]
combined oxidative phosphorylation deficiency 7 DOID_0111487 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.]
obsolete peripheral enthesopathy DOID_1667
obsolete hip enthesopathy DOID_1666
obsolete central nervous system embryonal cancer DOID_1665 [An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord.]
obsolete primary Clostridium infectious disease DOID_0050351
obsolete primary Clostridiaceae infectious disease DOID_0050350
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.]
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.]
obsolete malignant intracranial germ cell neoplasm DOID_1661
obsolete opportunistic Burkholderiaceae infectious disease DOID_0050355
infant botulism DOID_0050354 [A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.]
Trematoda NCBITaxon_6178
Platyhelminthes NCBITaxon_6157
poor metabolism of thiopurines 1 DOID_0061004 [A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22.]