Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
maxicircle_gene	SO_0000654	[A mitochondrial gene located in a maxicircle.]
cryptic_gene	SO_0001431	[A gene that is not transcribed under normal conditions and is not critical to normal cellular functioning.]
encodes_overlapping_polypeptides_different_start_and_stop	SO_1001193	[A gene that is alternately spliced, and encodes more than one polypeptide, that have overlapping peptide sequences, but use different start and stop codons.]
bladder colloid adenocarcinoma	DOID_3710
bladder adenocarcinoma	DOID_3711	[A bladder carcinoma that derives_from epithelial cells of glandular origin.]
primary autosomal recessive microcephaly 3	DOID_0070286	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.]
primary autosomal recessive microcephaly	DOID_0070296	[A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.]
primary autosomal recessive microcephaly 11	DOID_0070287	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13.]
primary autosomal recessive microcephaly 12	DOID_0070284	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21.]
primary autosomal recessive microcephaly 1	DOID_0070285	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.]
primary autosomal recessive microcephaly 8	DOID_0070282	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q.]
primary autosomal recessive microcephaly 13	DOID_0070283	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.]
primary autosomal recessive microcephaly 5	DOID_0070280	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.]
Penaeus	NCBITaxon_133894
Penaeidae	NCBITaxon_6685
primary autosomal recessive microcephaly 19	DOID_0070281	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.]
Dipodascaceae	NCBITaxon_34353
Saccharomycetales	NCBITaxon_4892
primary autosomal recessive microcephaly 17	DOID_0070288	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24.]
primary autosomal recessive microcephaly 16	DOID_0070289	[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.]