Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
ankylosing spondylitis	DOID_7147	[A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.]
ankylosing spondylitis 2	DOID_0080604	[A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34.]
ankylosing spondylitis 3	DOID_0080605	[A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3.]
anterior segment dysgenesis 1	DOID_0080606	[An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24.]
cellular ependymoma	DOID_5500
obsolete resectable pancreas carcinoma	DOID_6830
lice infestation	DOID_5502	[A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera.]
parasitic ectoparasitic infectious disease	DOID_4110	[A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host.]
Pediculus humanus capitis infestation	DOID_5501	[A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability.]
tanycytic ependymoma	DOID_5504
obsolete recurrent anal cancer	DOID_6835
papillary ependymoma	DOID_5505
colon squamous cell carcinoma	DOID_5519	[A squamous cell carcinoma that is located_in the colon.]
anterior segment dysgenesis 5	DOID_0080610	[An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.]
anterior segment dysgenesis 6	DOID_0080611	[An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22.]
obsolete testicular intratubular germ cell neoplasia of the unclassified type	DOID_6849	[A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation.]
anterior segment dysgenesis 7	DOID_0080612	[An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25.]
osteoid	UBERON_0008883
bone tissue	UBERON_0002481
anterior segment dysgenesis 8	DOID_0080613	[An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13.]