Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
ovarian clear cell malignant adenofibroma	DOID_6554	[An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.]
infertility	DOID_5223
complex cortical dysplasia with other brain malformations 6	DOID_0090136	[A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21.]
gastric small cell carcinoma	DOID_6552
acute necrotizing encephalitis	DOID_5222
complex cortical dysplasia with other brain malformations 1	DOID_0090137	[A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3.]
von Economo's disease	DOID_5225
acute hemorrhagic encephalitis	DOID_5224
obsolete cellular blue nevus	DOID_5227
obsolete hamartoma of Spinal Cord	DOID_6556
obsolete vaginal blue nevus	DOID_5226
obsolete common blue nevus	DOID_5228
ethmoid sinus Schneiderian papilloma	DOID_6559
hereditary neutrophilia	DOID_0090120	[A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34.]
testicular spermatocytic seminoma	DOID_7891
aromatic L-amino acid decarboxylase deficiency	DOID_0090123	[An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.]
obsolete breast adenohibernoma	DOID_7892
neurogenic arthrogryposis multiplex congenita	DOID_0090124	[A nervous system disease characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35.]
hepatoerythropoietic porphyria	DOID_5230
obsolete apparent mineralocorticoid excess	DOID_0090121	[An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.]