Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
stop_retained_variant	SO_0001567	[A sequence variant where at least one base in the terminator codon is changed, but the terminator remains.]
internal_UTR	SO_0000241	[A UTR bordered by the terminal and initial codons of two CDSs in a polycistronic transcript. Every UTR is either 5', 3' or internal.]
funisitis	DOID_0050698	[A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.]
X-linked severe combined immunodeficiency	DOID_0060013	[A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.]
chorioamnionitis	DOID_0050697	[A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.]
recombinase activating gene 2 deficiency	DOID_0060012	[A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.]
recombinase activating gene 1 deficiency	DOID_0060011	[A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.]
Dent disease	DOID_0050699	[A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.]
Omenn syndrome	DOID_0060010	[A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.]
panic disorder	DOID_594	[An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.]
agoraphobia	DOID_593	[A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.]
obsolete fallopian tube soft tissue neoplasm	DOID_1966
fallopian tube leiomyosarcoma	DOID_1965	[A fallopian tube cancer that dervies_from smooth muscle cells.]
thymus lipoma	DOID_1975	[An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells.]
MHC class I deficiency	DOID_0060009	[A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.]
adenosarcoma	DOID_1974	[A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium.]
Borjeson-Forssman-Lehmann syndrome	DOID_0050681	[An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.]
janus kinase-3 deficiency	DOID_0060008	[A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells.]
fallopian tube adenosarcoma	DOID_1973	[A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.]
fallopian tube carcinosarcoma	DOID_1970	[A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue.]