Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
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 CARS2 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 TSFM on chromosome 12q14.1.]
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.]
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.]
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
autosomal recessive nonsyndromic deafness 45	DOID_0110502	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44.]
autosomal recessive nonsyndromic deafness 46	DOID_0110503	[An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31.]