All terms in DOID

Label Id Description
TFBS_translocation SO_0001885
transcript_fusion SO_0001886
combined pituitary hormone deficiency 2 DOID_0061020 [A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35.]
regulatory_region_fusion SO_0001887
combined pituitary hormone deficiency 3 DOID_0061021 [A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34.]
TFBS_fusion SO_0001888
autosomal recessive nonsyndromic deafness 83 DOID_0110528 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2.]
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis DOID_0111859 [A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23.]
combined pituitary hormone deficiency 6 DOID_0061022 [A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21.]
transcript_amplification SO_0001889
autosomal recessive nonsyndromic deafness 84A DOID_0110529 [An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.]
nonphotosensitive trichothiodystrophy 8 DOID_0061023 [A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22.]
nonphotosensitive trichothiodystrophy DOID_0111867 [A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation.]
autosomal recessive nonsyndromic deafness 79 DOID_0110526 [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 TPRN gene on chromosome 9q34.]
primary ciliary dyskinesia 45 DOID_0111857 [A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2.]
nonphotosensitive trichothiodystrophy 9 DOID_0061024 [A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13.]
primary ciliary dyskinesia 41 DOID_0111858 [A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.]
autosomal recessive nonsyndromic deafness 8 DOID_0110527 [An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22.]
familial restrictive cardiomyopathy 6 DOID_0061025 [A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31.]
obsolete Campylobacter fetus infectious disease DOID_0050379