All terms in DOID

Label Id Description
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.]
central retinal vein UBERON_0001673
craniocervical region vein UBERON_0009141
Haemaphysalis flava NCBITaxon_181088
Disproportionate short-trunk short stature HP_0003521
Abnormal axial skeleton morphology HP_0009121
Disproportionate short stature HP_0003498
This NCBITaxon_169495
Coelopellini NCBITaxon_169455
mixed type thymoma DOID_3280
thymoma DOID_3275 [A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.]