Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Mammantavirinae	NCBITaxon_2560074
Hantaviridae	NCBITaxon_1980413
congenital	TRANS_0000006	[Congenital transmission is a direct transmission process during which the pathogen is transmitted directly from mother to child at or around the time of birth.]
Pitt-Hopkins syndrome	DOID_0060488	[A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.]
left ventricular noncompaction	DOID_0060480	[An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium.]
intrinsic cardiomyopathy	DOID_0060036	[A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.]
Goldberg-Shprintzen syndrome	DOID_0060481	[A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has _material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.]
oculoauricular syndrome	DOID_0060482	[A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.]
MEDNIK syndrome	DOID_0060483	[A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.]
EAST syndrome	DOID_0060484	[A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.]
Mowat-Wilson syndrome	DOID_0060485	[A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.]
Perry syndrome	DOID_0060486	[A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.]
contact	TRANS_0000007	[Contact transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by kissing, skin-to-skin contact, sexual intercourse, or by contact with soil or vegetation containing the pathogen.]
droplet spread	TRANS_0000008	[Droplet spread transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by spray of aerosols over a short distance, spray from sneezing, coughing or talking.]
airborne	TRANS_0000009	[Airborne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host while suspended in the air as dust.]
Orthoparamyxovirinae	NCBITaxon_2560076
Paramyxoviridae	NCBITaxon_11158
cauda equina	UBERON_0012337
multi cell part structure	UBERON_0005162
chromosome 17p13.3 duplication syndrome	DOID_0060432