Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Abnormality of calvarial morphology	HP_0002648	[The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.]
Abnormality of the male genitalia	HP_0010461	[Abnormality of the male genital system.]
Abnormal external genitalia	HP_0000811
interchromosomal_translocation	SO_0002060	[A translocation where the regions involved are from different chromosomes.]
chromosomal_translocation	SO_1000044	[A chromosomal mutation. Rearrangements that alter the pairing of telomeres are classified as translocations.]
toothache	SYMP_0000438
intrachromosomal_translocation	SO_0002061	[A translocation where the regions involved are from the same chromosome.]
paresthesia	SYMP_0000435	[Paresthesia is a skin and integumentary tissue symptom characterized as a sensation of pricking, tingling, or creeping on the skin having no objective cause and usually associated with injury or irritation of a sensory nerve or nerve root.]
tethered spinal cord syndrome	DOID_1089
complex_chromosomal_rearrangement	SO_0002062	[A contiguous cluster of translocations, usually the result of a single catastrophic event such as chromothripsis or chromoanasynthesis.]
complex_structural_alteration	SO_0001784	[A structural sequence alteration or rearrangement encompassing one or more genome fragments, with 4 or more breakpoints.]
abnormal vaginal bleeding	SYMP_0000436
Abnormality of the testis	HP_0000035	[An anomaly of the testicle (the male gonad).]
meningocele	DOID_1088
spina bifida	DOID_0080016
Alu_insertion	SO_0002063	[An insertion of sequence from the Alu family of mobile elements.]
mobile_element_insertion	SO_0001837	[A kind of insertion where the inserted sequence is a mobile element.]
LINE1_insertion	SO_0002064	[An insertion from the Line1 family of mobile elements.]
obsolete congenital chromosomal disease	DOID_1086
SVA_insertion	SO_0002065	[An insertion of sequence from the SVA family of mobile elements.]