Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
small cell sarcoma	DOID_3098
familial erythrocytosis 1	DOID_0060652	[A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.]
lethal congenital contracture syndrome 3	DOID_0060653	[A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.]
lethal congenital contracture syndrome 4	DOID_0060654	[A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.]
autosomal recessive congenital ichthyosis	DOID_0060655	[An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.]
ichthyosis	DOID_1697	[A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed.]
autosomal recessive congenital ichthyosis 1	DOID_0060656	[An autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.]
regional part of cerebellar cortex	UBERON_0002749
reticulohistiocytic granuloma	DOID_4394
histiocytosis	DOID_3405	[A lymphatic system disease that is characterized by an excessive number of histiocytes.]
obsolete Henipavirus infectious disease	DOID_4393	[A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal.]
abdominal segment skin	UBERON_0003836
pustulosis of palm and sole	DOID_4398
dicarboxylic aminoaciduria	DOID_0060650
granulomatous dermatitis	DOID_4397
obsolete taste disorder	DOID_3067
MYH-9 related disease	DOID_0060651	[A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.]
blood platelet disease	DOID_2218
glioblastoma multiforme	DOID_3068	[An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.]
astrocytoma	DOID_3069	[A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.]