Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Li-Fraumeni syndrome 2	DOID_0111504	[A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in CHEK2 on chromosome 22q12.1.]
inclusion conjunctivitis	DOID_13800	[A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus.]
combined oxidative phosphorylation deficiency 29	DOID_0111501	[A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TXN2 on chromosome 22q12.3.]
combined oxidative phosphorylation deficiency	DOID_0060286	[A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.]
combined oxidative phosphorylation deficiency 6	DOID_0111502	[A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1.]
adult type testicular granulosa cell tumor	DOID_8394
Polyploviricotina	NCBITaxon_2497571
combined oxidative phosphorylation deficiency 23	DOID_0111500	[A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11.]
Haploviricotina	NCBITaxon_2497570
precursor B lymphoblastic lymphoma/leukemia	DOID_7061	[A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.]
reticular pattern testicular yolk sac tumor	DOID_8392
obsolete ectopic chorionic gonadotropin secretion disease	DOID_8386
obsolete metastatic non-cutaneous melanoma	DOID_8387
familial combined hyperlipidemia	DOID_13809
obsolete anaplastic small cell thyroid carcinoma	DOID_7053
lymphedema-distichiasis syndrome	DOID_0111509	[A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in FOXC2 on chromosome 16q24.1.]
multiple skull base meningioma	DOID_7054
Lenz-Majewski hyperostotic dwarfism	DOID_0111507	[A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in PTDSS1 on chromosome 8q22.1.]
Torrance type platyspondylic dysplasia	DOID_0111508	[An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.]
obsolete mixed embryonal carcinoma and seminoma of the testis	DOID_8388