Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete recurrent ureteric cancer	DOID_6887
obsolete adult soft tissue sarcoma	DOID_4224	[A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body.]
ureter transitional cell carcinoma	DOID_6888
endometrial stromal sarcoma	DOID_4226	[An endometrial stromal tumor that has_material_basis in connective tissue.]
testicular germ cell cancer	DOID_5557	[A testicular cancer that has_material_basis_in germ cells.]
ureter small cell carcinoma	DOID_6886
obsolete stromal sarcoma	DOID_4228
uterine corpus endometrial stromal sarcoma	DOID_4227	[A uterine corpus sarcoma that has_material_basis in the connective tissue of the uterine lining.]
glucocorticoid deficiency 1	DOID_0080621	[A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11.]
familial glucocorticoid deficiency	DOID_0080620	[An adrenal cortex disease that is characterized by insufficent production of glucocorticoids.]
lacrimal gland squamous cell carcinoma	DOID_5529	[A squamous cell carcinoma that is located_in the lacrimal gland.]
lacrimal gland carcinoma	DOID_293
peroxisome biogenesis disorder 2B	DOID_0080622	[A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3.]
Heimler syndrome 1	DOID_0080623	[A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.]
Heimler syndrome 2	DOID_0080624	[A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21.]
adrenal gland disease	DOID_9553	[An endocrine system disease that is located_in the adrenal gland.]
alopecia-mental retardation syndrome 2	DOID_0080629	[An alopecia-mental retardation syndrome that has_material_basis_in linkage to chromosome 3q26.2-q26.31 locus APMR2.]
alopecia-mental retardation syndrome	DOID_0080627	[A syndrome that is characterized by loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation.]
severe congenital neutropenia 1	DOID_0080625	[A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.]
severe congenital neutropenia	DOID_0050590	[A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.]