Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
chromosome 3q29 microdeletion syndrome	DOID_0060419
chromosome 1p36 deletion syndrome	DOID_0060410
chromosome 1q21.1 deletion syndrome	DOID_0060411
chromosome 1q41-q42 deletion syndrome	DOID_0060412
chromosome 22q11.2 deletion syndrome, distal	DOID_0060413
chromosome 2p12-p11.2 deletion syndrome	DOID_0060414
chromosome 2p16.1-p15 deletion syndrome	DOID_0060415
chromosome 2q31.2 deletion syndrome	DOID_0060416
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
chromosome 16q22 deletion syndrome	DOID_0060401	[A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by 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