All terms in DOID

Label Id Description
Lentivirus NCBITaxon_11646
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.]
chromosome 2q31.2 deletion syndrome DOID_0060416 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region.]
3p deletion syndrome DOID_0060417 [A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.]
chromosome 18q deletion syndrome DOID_0060407 [A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.]
chromosome 19q13.11 deletion syndrome DOID_0060408 [A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.]
NFIA-related disorder DOID_0060409 [A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.]
Orientia NCBITaxon_69474
Rickettsieae NCBITaxon_33988
chromosome 16p12.2-p11.2 deletion syndrome DOID_0060400 [A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.]
throat UBERON_0000341
trigeminal ganglion UBERON_0001675