All terms in DOID

Label Id Description
Pleosporaceae NCBITaxon_28556
chromosome 16p11.2 duplication syndrome DOID_0060430 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.]
chromosome 16p13.3 duplication syndrome DOID_0060431 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region.]
holocrine gland UBERON_0012344
chromosomal disease DOID_0080014 [A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.]
ear UBERON_0001690
external ear UBERON_0001691
chromosome 5q12 deletion syndrome DOID_0060421 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region.]
chromosomal deletion syndrome DOID_0060388 [A chromosomal disease that has_material_basis_in partial deletion of chromosomes.]
chromosome 6pter-p24 deletion syndrome DOID_0060422 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region.]
chromosome 6q11-q14 deletion syndrome DOID_0060423 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate.]
renal medulla UBERON_0000362
medulla of organ UBERON_0000958
Scedosporium boydii NCBITaxon_5597
Scedosporium NCBITaxon_41687
chromosome 6q24-q25 deletion syndrome DOID_0060424 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region.]
chromosome 8q21.11 deletion syndrome DOID_0060425 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features.]
chromosome 19p13.13 deletion syndrome DOID_0060426 [A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity.]
chromosome Xp21 deletion syndrome DOID_0060427 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region.]
flexor muscle UBERON_0000366