Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
mitochondrial complex III deficiency nuclear type 5	DOID_0080114	[A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.]
obsolete Vasa previa	DOID_10279
obsolete Pseudomonas intestinal infectious disease	DOID_10277	[A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess.]
mitochondrial DNA depletion syndrome 1	DOID_0080119	[A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13.]
obsolete Vasa previa complicating labor and delivery	DOID_10278
Avian avulavirus 1	NCBITaxon_11176
Avulavirus	NCBITaxon_260963
obsolete recurrent uterine sarcoma	DOID_7793	[A uterine Corpus sarcoma that has recurred after it has been treated.]
susceptibility to chordoma	OMIM_215400
obsolete skin tumor of smooth muscle origin	DOID_5133
leiomyoma cutis	DOID_5132
anus leiomyoma	DOID_5134	[A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus.]
anus	UBERON_0001245
ovarian mucinous adenofibroma	DOID_6469	[An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.]
pericardium leiomyoma	DOID_5137	[A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium.]
cardiovascular organ benign neoplasm	DOID_0060091	[An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.]
lung leiomyoma	DOID_5136	[A lung benign neoplasm that derives_from some smooth muscle cell.]
obsolete bone recurrent Ewing's sarcoma	DOID_6467
cellular leiomyoma	DOID_5139	[A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures.]
obsolete transitional cell carcinoma of the ureter with glandular differentiation	DOID_7799