Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
polyadenylated	SO_0000246	[A attribute describing the addition of a poly A tail to the 3' end of a mRNA molecule.]
conservative_missense_variant	SO_0001585	[A sequence variant whereby at least one base of a codon is changed resulting in a codon that encodes for a different but similar amino acid. These variants may or may not be deleterious.]
inflammatory bowel disease 13	DOID_0110893	[An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1.]
rRNA_small_subunit_primary_transcript	SO_0000255	[A primary transcript encoding a small ribosomal subunit RNA.]
complex_transcript_variant	SO_0001577	[A transcript variant with a complex INDEL- Insertion or deletion that spans an exon/intron border or a coding sequence/UTR border.]
alanyl_tRNA	SO_0000254	[A tRNA sequence that has an alanine anticodon, and a 3' alanine binding region.]
stop_lost	SO_0001578	[A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript.]
fetal alcohol syndrome	DOID_0050665	[A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.]
fetal alcohol spectrum disorder	DOID_0050696	[A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.]
Bietti crystalline corneoretinal dystrophy	DOID_0050664	[A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.]
alcohol-related neurodevelopmental disorder	DOID_0050667	[A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.]
partial fetal alcohol syndrome	DOID_0050666	[A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.]
alcohol-related birth defect	DOID_0050668	[A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.]
chronic eustachian salpingitis	DOID_1999	[A otosalpingitis which is persistent and long-lasting.]
Lutembacher's syndrome	DOID_1998
brachyolmia	DOID_0050690	[An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.]
coronin-1A deficiency	DOID_0060019	[A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.]
Brody myopathy	DOID_0050692	[A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.]
CD3gamma deficiency	DOID_0060018	[A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.]
branchiooculofacial syndrome	DOID_0050691	[A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts.]