All terms in DOID

Label Id Description
autosomal recessive intellectual developmental disorder 14 DOID_0081188 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13.]
autosomal recessive intellectual developmental disorder 5 DOID_0081181 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15.]
autosomal recessive intellectual developmental disorder 6 DOID_0081182 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16.]
autosomal recessive intellectual developmental disorder 7 DOID_0081183 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22.]
autosomal recessive intellectual developmental disorder 9/26 DOID_0081184 [An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus.]
common variable immunodeficiency 14 DOID_0081156 [A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42.]
common variable immunodeficiency DOID_12177 [An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.]
dilated cardiomyopathy 1LL DOID_0081157 [A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36.]
dilated cardiomyopathy DOID_12930 [An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.]
dilated cardiomyopathy 1MM DOID_0081158 [A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.]
dilated cardiomyopathy 2C DOID_0081159 [A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.]
epidermis gland UBERON_0007771
brachial nerve plexus UBERON_0001814
spinal nerve plexus UBERON_0001813
lacrimal gland UBERON_0001817
lateral gland of orbital region UBERON_0015154
eye gland UBERON_0004859
nerve plexus UBERON_0001810
anatomical junction UBERON_0007651
conjunctiva UBERON_0001811