All terms in DOID

Label Id Description
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 characterized 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 transmission 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 transmission 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 transmission 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
cauda equina UBERON_0012337
multi cell part structure UBERON_0005162
multisystem proteinopathy DOID_070355 [A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system.]
motor neuron disease DOID_231 [A neurodegenerative disease that is located_in the motor neurons.]
chromosome 17p13.3 duplication syndrome DOID_0060432 [A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3.]
chromosome 17q12 duplication syndrome DOID_0060433 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region.]
chromosome 17q21.31 duplication syndrome DOID_0060434 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region.]
chromosome 1q21.1 duplication syndrome DOID_0060435 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region.]
chromosome 22q11.2 microduplication syndrome DOID_0060436 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.]
chromosome 22q13 duplication syndrome DOID_0060437 [A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene.]