Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete head neoplasm	DOID_449
brachydactyly type D	DOID_0110971	[A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1.]
achalasia	DOID_9164	[An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.]
brachydactyly type E1	DOID_0110972	[A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.]
splice_site	SO_0000162	[Consensus region of primary transcript bordering junction of splicing. A region that overlaps exactly 2 base and adjacent_to splice_junction.]
brachydactyly type C	DOID_0110970	[A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.]
obsolete Sezary's disease involving intrapelvic lymph nodes	DOID_9161
splice_junction	SO_0001421	[The boundary between an intron and an exon.]
obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes	DOID_9157
mucocutaneous leishmaniasis	DOID_9155	[A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.]
translocation_breakpoint	SO_0001413	[The point within a chromosome where a translocation begins or ends.]
insertion_breakpoint	SO_0001414	[The point within a chromosome where a insertion begins or ends.]
Sugarman brachydactyly	DOID_0110979	[A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position.]
obsolete facial neoplasm	DOID_448
deletion_breakpoint	SO_0001415	[The point within a chromosome where a deletion begins or ends.]
five_prime_flanking_region	SO_0001416	[A flanking region located five prime of a specific region.]
flanking_region	SO_0000239	[The sequences extending on either side of a specific region.]
brachydactyly type A1C	DOID_0110977	[A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11.]
gas gangrene	DOID_9159	[A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis.]
three_prime_flanking_region	SO_0001417	[A flanking region located three prime of a specific region.]