All terms in DOID

Label Id Description
cryptic_splice_donor SO_0001571
exon_loss_variant SO_0001572
intron_gain_variant SO_0001573
splice_site_variant SO_0001629
regulatory_region_variant SO_0001566
stop_retained_variant SO_0001567
susceptibility to essential hypertension 3 MIM_607329
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.]
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.]