Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
pneumatized bone	UBERON_0008193
chromosome 17q11.2 deletion syndrome, 1.4Mb	DOID_0060403	[A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 17q11.2 region which includes the NF1 gene, which is mutant in neurofibromatosis type I and that is characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.]
chromosome 17q12 deletion syndrome	DOID_0060404	[A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.]
chromosome 17q23.1-q23.2 deletion syndrome	DOID_0060405	[A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.]
mucosa	UBERON_0000344
chromosome 18p deletion syndrome	DOID_0060406	[A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.]
central retinal vein	UBERON_0001673
craniocervical region vein	UBERON_0009141
Haemaphysalis flava	NCBITaxon_181088
Disproportionate short-trunk short stature	HP_0003521	[A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.]
Abnormal axial skeleton morphology	HP_0009121	[An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.]
Disproportionate short stature	HP_0003498	[A kind of short stature in which different regions of the body are shortened to differing extents.]
This	NCBITaxon_169495
Coelopellini	NCBITaxon_169455
mixed type thymoma	DOID_3280
thymoma	DOID_3275	[A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.]
combined thymoma	DOID_3281
dendritic cell thymoma	DOID_3282
leukocyte disease	DOID_9500	[A hematopoietic system disease that is located_in white blood cells.]
hematologic cancer	DOID_2531	[An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.]