Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
central pontine myelinolysis	DOID_636	[A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria.]
plasmid_vector	SO_0000755
vector_replicon	SO_0000440	[A replicon that has been modified to act as a vector for foreign sequence.]
lambda_vector	SO_0000754	[The lambda bacteriophage is the vector for the linear lambda clone. The genes involved in the lysogenic pathway are removed from the from the viral DNA. Up to 25 kb of foreign DNA can then be inserted into the lambda genome.]
clone_insert	SO_0000753	[The region of sequence that has been inserted and is being propagated by the clone.]
proviral_location	SO_0000751
fibromyalgia	DOID_631
neuronal ceroid lipofuscinosis 5	DOID_0110728	[A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.]
neuronal ceroid lipofuscinosis 6	DOID_0110729	[A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.]
neuronal ceroid lipofuscinosis 2	DOID_0110726	[A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.]
acquired immunodeficiency syndrome	DOID_635	[A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.]
human immunodeficiency virus infectious disease	DOID_526	[A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.]
neuronal ceroid lipofuscinosis 13	DOID_0110727	[A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant	DOID_0110724	[A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.]
neuronal ceroid lipofuscinosis 10	DOID_0110725	[A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.]
plasmid_location	SO_0000749
proplastid_sequence	SO_0000748
plastid_sequence	SO_0000740
congenital hypotrichosis with juvenile macular dystrophy	DOID_0110711	[A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1.]
leucoplast_sequence	SO_0000747