All terms in DOID

Label Id Description
eye gland UBERON_0004859
nerve plexus UBERON_0001810
anatomical junction UBERON_0007651
conjunctiva UBERON_0001811
anatomical wall UBERON_0000060
common variable immunodeficiency 10 DOID_0081152 [A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24.]
common variable immunodeficiency 11 DOID_0081153 [A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27.]
common variable immunodeficiency 12 DOID_0081154 [A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24.]
common variable immunodeficiency 13 DOID_0081155 [A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12.]
common variable immunodeficiency 7 DOID_0081150 [A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32.]
common variable immunodeficiency 8 DOID_0081151 [A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31.]
HMG-CoA synthase 2 deficiency DOID_0081168 [An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12.]
Leber congenital amaurosis 19 DOID_0081169 [A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16.]
Leber congenital amaurosis DOID_14791 [A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.]
parotid gland UBERON_0001831
nasal cavity mucosa UBERON_0001826
gingiva UBERON_0001828
mouth mucosa UBERON_0003729
sebaceous gland UBERON_0001821
dilated cardiomyopathy 2G DOID_0081163 [A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.]