All terms in DOID

Label Id Description
short bone UBERON_0013630
ureteral orifice UBERON_0012303
orifice UBERON_0000161
urethral opening UBERON_0010418
sesamoid element UBERON_0013631
hypoglossal nerve UBERON_0001650
glossopharyngeal nerve UBERON_0001649
trigeminal nerve UBERON_0001645
abducens nerve UBERON_0001646
facial nerve UBERON_0001647
vestibulocochlear nerve UBERON_0001648
chromosome 3q13.31 deletion syndrome DOID_0060418 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.]
chromosome 3q29 microdeletion syndrome DOID_0060419 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region.]
chromosome 1p36 deletion syndrome DOID_0060410 [A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.]
chromosome 1q21.1 deletion syndrome DOID_0060411 [A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.]
chromosome 1q41-q42 deletion syndrome DOID_0060412 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.]
autosomal genetic disease DOID_0050739 [A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.]
chromosome 22q11.2 deletion syndrome, distal DOID_0060413 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.]
chromosome 2p12-p11.2 deletion syndrome DOID_0060414 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region.]
chromosome 2p16.1-p15 deletion syndrome DOID_0060415 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate.]