All terms in DOID

Label Id Description
Duane retraction syndrome 2 DOID_0061028 [A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31.]
primary ciliary dyskinesia 40 DOID_0111853 [A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12.]
autosomal recessive nonsyndromic deafness 71 DOID_0110522 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3.]
transcript_regulatory_region_fusion SO_0001890
feature_fusion SO_0001882
Duane retraction syndrome 3 DOID_0061029 [A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12.]
primary ciliary dyskinesia 39 DOID_0111854 [A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.]
autosomal recessive nonsyndromic deafness 74 DOID_0110523 [An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14.]
regulatory_region_amplification SO_0001891
feature_amplification SO_0001880
primary ciliary dyskinesia 44 DOID_0111851 [A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1.]
autosomal recessive nonsyndromic deafness 7 DOID_0110520 [An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21.]
TFBS_amplification SO_0001892
primary ciliary dyskinesia 38 DOID_0111852 [A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1.]
autosomal recessive nonsyndromic deafness 70 DOID_0110521 [An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16.]
transcript_ablation SO_0001893
feature_ablation SO_0001879
primary ciliary dyskinesia 36 DOID_0111850 [A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3.]
regulatory_region_translocation SO_0001884
feature_translocation SO_0001881