Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
match	SO_0000343	[A region of sequence, aligned to another sequence with some statistical significance, using an algorithm such as BLAST or SIM4.]
DCE	SO_0001664	[A discontinuous core element of RNA polymerase II transcribed genes, situated downstream of the TSS. It is composed of three sub elements: SI, SII and SIII.]
DCE_SI	SO_0001665	[A sub element of the DCE core promoter element, with consensus sequence CTTC.]
chromosome_band	SO_0000341	[A cytologically distinguishable feature of a chromosome, often made visible by staining, and usually alternating light and dark.]
DCE_SII	SO_0001666	[A sub element of the DCE core promoter element with consensus sequence CTGT.]
obsolete Ankle or tarsus enthesopathy	DOID_211
DCE_SIII	SO_0001667	[A sub element of the DCE core promoter element with consensus sequence AGC.]
heel spur	DOID_210	[An exostosis that results_in an abnormal growth located_in calcaneus.]
exostosis	DOID_203	[A hyperostosis that involves formation of new bone on the surface of preexisting bone.]
proximal_promoter_element	SO_0001668	[DNA segment that ranges from about -250 to -40 relative to +1 of RNA transcription start site, where sequence specific DNA-binding transcription factors binds, such as Sp1, CTF (CCAAT-binding transcription factor), and CBF (CCAAT-box binding factor).]
enamel caries	DOID_217
RNApol_II_core_promoter	SO_0001669	[The minimal portion of the promoter required to properly initiate transcription in RNA polymerase II transcribed genes.]
chromosome 16p11.2 deletion syndrome, 220kb	DOID_0060398	[A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene.]
chromosome 15q26-qter deletion syndrome	DOID_0060397	[A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.]
chromosome 15q25 deletion syndrome	DOID_0060396	[A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15.]
chromosome 15q24 deletion syndrome	DOID_0060395	[A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.]
chromosome 15q13.3 microdeletion syndrome	DOID_0060394	[A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.]
chromosome 15q11.2 deletion syndrome	DOID_0060393	[A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.]
chromosome 14q11-q22 deletion syndrome	DOID_0060392	[A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.]
chromosome 13q14 deletion syndrome	DOID_0060391	[A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13.]