Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Joubert syndrome 16	DOID_0110985	[A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.]
Joubert syndrome 13	DOID_0110982	[A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.]
variola minor	DOID_9153	[A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.]
Joubert syndrome 14	DOID_0110983	[A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33.]
Joubert syndrome 1	DOID_0110980	[A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.]
Joubert syndrome 10	DOID_0110981	[A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.]
obsolete Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes	DOID_9150
visceral leishmaniasis	DOID_9146	[A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.]
leishmaniasis	DOID_9065	[A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).]
conformational_switch	SO_0001422	[A region of a polypeptide, involved in the transition from one conformational state to another.]
endogenous_retroviral_gene	SO_0000100	[A proviral gene with origin endogenous retrovirus.]
dye_terminator_read	SO_0001423	[A read produced by the dye terminator method of sequencing.]
pyrosequenced_read	SO_0001424	[A read produced by pyrosequencing technology.]
pleomorphic adenoma	DOID_452	[A gastrointestinal system benign neoplasm that is a located_in the salivary glands.]
obsolete Burkitt's tumor or lymphoma involving spleen	DOID_9143
ligation_based_read	SO_0001425	[A read produced by ligation based sequencing technologies.]
polymerase_synthesis_read	SO_0001426	[A read produced by the polymerase based sequence by synthesis method.]
hard palate cancer	DOID_9149
cis_regulatory_frameshift_element	SO_0001427	[A structural region in an RNA molecule which promotes ribosomal frameshifting of cis coding sequence.]
Joubert syndrome 2	DOID_0110988	[A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.]