All terms in DOID

Label Id Description
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
sensory ganglion UBERON_0001800
chromosome 16q22 deletion syndrome DOID_0060401 [A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.]
chromosome 17p13.1 deletion syndrome DOID_0060402 [A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.]
sphenoid bone UBERON_0001677
sphenoid endochondral element UBERON_0015060
pneumatized bone UBERON_0008193
chromosome 17q11.2 deletion syndrome DOID_0060403 [A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene.]
chromosome 17q12 deletion syndrome DOID_0060404 [A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder.]
chromosome 17q23.1-q23.2 deletion syndrome DOID_0060405 [A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.]
chromosome 18p deletion syndrome DOID_0060406 [A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.]