Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
adult spinal cord ependymoma	DOID_7788
spinal cord ependymoma	DOID_5503	[A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal.]
Cowden syndrome	DOID_6457	[A syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.]
bizarre leiomyoma	DOID_5127	[A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures.]
Abnormality of the scalp	HP_0001965	[Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.]
simple partial epilepsy	DOID_5129
Mesangial abnormality	HP_0001966	[An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.]
Diffuse mesangial sclerosis	HP_0001967	[Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.]
mitochondrial complex III deficiency nuclear type 6	DOID_0080115	[A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24.]
mitochondrial complex III deficiency	DOID_0111139	[A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III.]
obsolete schizo-affective type schizophrenia in remission	DOID_10274
mitochondrial complex III deficiency nuclear type 7	DOID_0080116	[A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21.]
Leukocytosis	HP_0001974	[An abnormal increase in the number of leukocytes in the blood.]
Abnormal leukocyte count	HP_0011893	[Number of leukocytes per volume of blood beyond normal limits.]
mitochondrial complex III deficiency nuclear type 8	DOID_0080117	[A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23.]
left bundle branch hemiblock	DOID_10272
mitochondrial complex III deficiency nuclear type 9	DOID_0080118	[A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12.]
mitochondrial complex III deficiency nuclear type 1	DOID_0080111	[A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.]
mitochondrial complex III deficiency nuclear type 3	DOID_0080112	[A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22.]
mitochondrial complex III deficiency nuclear type 4	DOID_0080113	[A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31.]