All terms in DOID

Label Id Description
dilated cardiomyopathy 1HH DOID_0110448 [A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11.]
X-linked panhypopituitarism DOID_0111779 [A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1.]
dilated cardiomyopathy 1KK DOID_0110445 [A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21.]
46,XY sex reversal 5 DOID_0111776 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.]
dilated cardiomyopathy 1W DOID_0110446 [A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2.]
46,XY sex reversal 2 DOID_0111777 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2.]
dilated cardiomyopathy 1B DOID_0110443 [A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13.]
46,XY sex reversal 7 DOID_0111774 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12.]
46,XY sex reversal 10 DOID_0111775 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24.]
dilated cardiomyopathy 1X DOID_0110444 [A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31.]
dilated cardiomyopathy 2B DOID_0110441 [A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21.]
46,XY sex reversal 3 DOID_0111772 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3.]
dilated cardiomyopathy 1Q DOID_0110442 [A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1.]
46,XY sex reversal 8 DOID_0111773 [A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.]
poverty ExO_0000015 [A psychosocial agent that is a situation in which the level of living of an individual, family, or group is below the standard of the community. It is often related to a specific income level.]
climate change ExO_0000014 [An ecological pertubation that is any significant change in measures of climate (such as temperature, precipitation, or wind) lasting for an extended period (decades or longer). It may result from natural factors such as changes in the sun's intensity, natural processes within the climate system such as changes in ocean circulation, or human activities.]
ecological perturbations ExO_0000007 [An exposure stressor that is a change in the distributions, abundance and relations of organisms and their interactions with the environment.]
secondary alcohol CHEBI_35681
dilated cardiomyopathy 1M DOID_0110449 [A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15.]
Lambert-Eaton myasthenic syndrome DOID_0050214 [A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.]