name: psoriatic arthritis, susceptibility to, 1

description: A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement.


sarcoidosis, susceptibility to, 2

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.


elemental molecular entity

A molecular entity all atoms of which have the same atomic number.


elemental molecule

A molecule all atoms of which have the same atomic number.


monoatomic entity

A monoatomic entity is a molecular entity consisting of a single atom.


native element mineral

A mineral that is composed of atoms from a single element.


halide anion

A monoatomic monoanion resulting from the addition of an electron to any halogen atom.


name: lumbar disk degeneration, susceptibility to


polonium atom

A radioactive metallic element discovered in 1898 by Marie Sklodowska Curie and named after her home country, Poland (Latin Polonia).


polonium-206 atom

The radioactive isotope of polonium with relative atomic mass 205.98047 and half-life of 8.8 days.


polonium-205 atom

The radioactive isotope of polonium with relative atomic mass 204.981165 and half-life of 1.66 h.


polonium-213 atom

The radioactive isotope of polonium with relative atomic mass 212.9928425 and half-life of 4.2 mus.


polonium-214 atom

The radioactive isotope of polonium with relative atomic mass 213.995186 and half-life of 164.3 mus.


polonium-216 atom

The radioactive isotope of polonium with relative atomic mass 216.001905 and half-life of 0.145 s.


polonium-215 atom

The radioactive isotope of polonium with relative atomic mass 214.999415 and half-life of 1.781 ms.


polonium-212 atom

The radioactive isotope of polonium with relative atomic mass 211.988852 and half-life of 0.299 mus.


polonium-218 atom

The radioactive isotope of polonium with relative atomic mass 218.008966 and half-life of 3.10 min.


polonium-207 atom

The radioactive isotope of polonium with relative atomic mass 206.981578 and half-life of 5.80 h.


polonium-211 atom

The radioactive isotope of polonium with relative atomic mass 210.986637 and half-life of 0.516 s.


polonium-208 atom

The radioactive isotope of polonium with relative atomic mass 207.98123 and half-life of 2.898 years.


organic phosphate compound

A phosphate compound with C-H bonds


organic calcium compound

A calcium compound with C-H bonds


dermatitis, atopic, 4

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 17q25.3.


dermatitis, atopic, susceptibility to

description: An inherited susceptibility or predisposition to developing atopic dermatitis.


dermatitis, atopic, 8

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 4q22.1.


dermatitis, atopic, 3

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p.


dermatitis, atopic, 7

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 11q13.5.


dermatitis, atopic, 1

description: An inherited susceptibility or predisposition to developing atopic dermatitis. A genomewide linkage study revealed highly significant evidence for linkage on 3q21 (ATOD1) at marker D3S3606.


dermatitis, atopic, 9

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 3p24.


dermatitis, atopic, 6

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 5q31-q33.


dermatitis, atopic, 5

description: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 13q12-q14.


zinc-65 atom

A zinc atom in which the nucleus contains 35 neutrons. It has a half-life of 244 days, decaying by emission of a positron (beta(+) decay), and is the most abundant and stable of the 25 known radioisotopes of zinc.


The isotope of cadmium with relative atomic mass 112.904401, 12.2 atom percent natural abundance and nuclear spin 1/2.


aluminosilicate mineral

Silicate minerals that contain aluminium, silicon, and oxygen, together with other ions. They are a major component of clay minerals.


kaolinite

An aluminosilicate mineral with approximate chemical composition H2Al2Si2O8.H2O. Rocks that are rich in kaolinite are known as kaolin or china clay.


multicellular anatomical structure

category: biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: An anatomical structure that has more than one cell as a part.


craniosynostosis 7

description: Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).


di-tert-butyl nitroxide

An aminoxyl that is N-tert-butyl-2-methylpropan-2-amine carrying an oxidanediyl group at the nitrogen atom.


benzosemiquinones

A semiquinone derived from a benzoquinone by formal addition of one hydrogen atom with its electron.


An organic radical obtained by abstraction of the hydroxy proton from (3,4-dimethoxyphenyl)methanol.


aminoxyls

Radicals derived from hydroxylamines by removal of the hydrogen atom from the hydroxy group. The synonymous terms nitroxyl radicals and nitroxides erroneously suggest the presence of a nitro group.


acetyl

An organic radical derived from  acetaldehyde.


carbene

The electrically neutral species H2C(2.) and its derivatives, in which the carbon is covalently bonded to two univalent groups of any kind or a divalent group and bears two nonbonding electrons, which may be spin-paired (singlet state) or spin-non-paired (triplet state).


ethyl

An organic radical derived from ethane.


semiquinone

An organic radical resulting from the formal addition of one hydrogen atom with its electron to a quinone (or from the formal removal of one hydrogen atom with its electron from the corresponding hydroquinone).


environmentally persistent free radical

Any organic free radical stabilized on or inside other fine particles (PM2.5). It is a class of toxic air pollutants that have strong durability, can generate reactive oxygen species, and cause serious environmental pollution and toxicity.


A carbene that is derived from 1H-indene.


octanoyloxidanyl

An organic radical derived from  octanoic acid.


oxomethyl

An organic radical derived from formaldehyde.


imidoyl carbene

Carbenes having the structure R-C(=NR')-C(2.)-R''.


phenolic radical donor

Any phenoxy radical that acts as an electron donor.


Carbenes containing an imidazol-2-ylidene skeleton.


acyl carbene

Any compound acyl-C(2.)-R. In organic chemistry, an unspecified acyl carbene is commonly a carboxylic acyl carbene.


cation

A monoatomic or polyatomic species having one or more elementary charges of the proton.


monovalent inorganic cation

An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one.


age related macular degeneration 5

description: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene.


manganese-55 atom

A stable isotope of manganese with relative atomic mass 54.93804, 100 atom percent natural abundance and nuclear spin 5/2.


name: migraine, with or without aura, susceptibility to, 13

description: Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.


p-block molecular entity

A main group molecular entity that contains one or more atoms of a p-block element.


organogermanium compound

An organogermanium compound is a compound containing at least one carbon-germanium bond.


diselenide

Compounds having the structure RSe2R, with R =/= H.


chalcogen molecular entity

Any p-block molecular entity containing a chalcogen.


selenites

Salts and esters of selenous acid.


metal tetrahydridoborate

Compounds with the general formula MBH4.


iron(III) oxide-hydroxide(1-)

The inorganic anion obtained by deprotonation of iron(III) oxide-hydroxide; major species at pH 7.3.


name: breast-ovarian cancer, familial, susceptibility to, 2

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.


name: epilepsy, idiopathic generalized, susceptibility to, 2


name: myoclonic epilepsy, juvenile, susceptibility to, 3


acyl group

An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids.


carboacyl group

A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid.


divalent carboacyl group

A divalent carboacyl group is a group formed by loss of OH from two carboxy groups of a polycarboxylic acid.


name: Parkinson disease 11, autosomal dominant, susceptibility to

description: An inherited susceptibility or predisposition to developing late onset Parkinson disease, in which the cause of the disease is a mutation in the GIGYF2 gene.


germanium-73 atom

The stable isotope of germanium with relative atomic mass 72.923459, 7.73 atom percent natural abundance and nuclear spin 9/2.


narcolepsy, susceptibility to

description: An inherited susceptibility or predisposition to developing narcolepsy.


name: coronary heart disease, susceptibility to, 6

description: Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.


name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

description: A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).


name: Hirschsprung disease, susceptibility to, 7


gas molecular entity

Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa).


The stable isotope of niobium with relative atomic mass 182.950225, 14.3 atom percent natural abundance and nuclear spin 1/2.


name: spondyloarthropathy, susceptibility to, 2


name: Hirschsprung disease, susceptibility to, 8


name: hypertension, essential, susceptibility to, 2


name: Schistosoma mansoni infection, susceptibility/resistance to


IgA nephropathy, susceptibility to, 3

description: Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene.


IgA nephropathy, susceptibility to

description: An inherited susceptibility or predisposition to developing IgA glomerulonephritis.


name: basal cell carcinoma, susceptibility to, 6


name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

description: A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).


name: encephalitis, acute, infection-induced, susceptibility to

description: An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced.


name: encephalopathy, acute, infection-induced, susceptibility to, 9


name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10


name: encephalitis, acute, infection (viral)-induced, susceptibility to, 11


name: encephalopathy, acute, infection-induced, susceptibility to, 4

description: Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene.


name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8


name: immunodeficiency 83, susceptibility to viral infections

description: An inherited susceptibility or predisposition to developing viral infections.


name: susceptibility to visceral leishmaniasis, 2


name: systemic lupus erythematosus, susceptibility to, 13


name: migraine with aura, susceptibility to, 9


fluorine-18 atom

The radioactive isotope of fluorine with relative atomic mass 18.000938. The longest-lived fluorine radionuclide with half-life of 109.77 min.


name: glaucoma, normal tension, susceptibility to


name: susceptibility to respiratory infections associated with CD8alpha chain mutation

description: Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.


name: lipodystrophy, partial, acquired, susceptibility to

description: An inherited susceptibility or predisposition to developing acquired partial lipodystrophy.


tellurium-125 atom

The stable isotope of tellurium with relative atomic mass 124.904425, 71.4 atom percent natural abundance and nuclear spin 1/2.


name: Graves disease, susceptibility to, X-linked 2


phosphorus-32 atom

The radioactive isotope of phosphorus with relative atomic mass 31.973907 and half-life of 14.26 days.


oxygen-16 atom

The stable isotope of oxygen with relative atomic mass 15.994914. The most abundant (99.76 atom percent) isotope of naturally occurring oxygen.


oxygen-15 atom

The radioactive isotope of oxygen with relative atomic mass 15.003065. The longest-lived oxygen radionuclide with half-life of 122.2 s.


sulfur-35 atom

The radioactive isotope of sulfur with relative atomic mass 34.9690322 and nuclear spin (3)/2. The longest-lived sulfur radionuclide with half-life of 87.5 days.


iodine-127 atom

The stable isotope of iodine with relative atomic mass 126.904468, 100 atom percent natural abundance and nuclear spin 5/2.


sulfur-34 atom

The stable isotope of sulfur with relative atomic mass 33.9678668 and 4.21 atom percent natural abundance.


bromine-79 atom

The stable isotope of bromine with relative atomic mass 78.918338, 50.69 atom percent natural abundance and nuclear spin 3/2.


sulfur-38 atom

The radioactive isotope of sulfur with relative atomic mass 37.97116 and half-life of 170.3 min.


sulfur-33 atom

The stable isotope of sulfur with relative atomic mass 32.9714585, 0.75 atom percent natural abundance, and nuclear spin (3)/2.


sulfur-32 atom

The stable isotope of sulfur with relative atomic mass 31.972071. The most abundant (95.02 atom percent) isotope of naturally occurring sulfur.


sulfur-36 atom

The stable isotope of sulfur with relative atomic mass 35.9670809. The least abundant (0.02 atom percent) isotope of naturally occurring sulfur.


iodine-129 atom

The isotope of iodine with relative atomic mass 128.904988, and nuclear spin 7/2.


fluorine-19 atom

The stable isotope of fluorine with relative atomic mass 18.998403 and nuclear spin (1)/2.


boron-11 atom

The stable isotope of boron with relative atomic mass 11.009306, 80.1 atom percent natural abundance and nuclear spin 3/2.


phosphorus-31 atom

The stable isotope of phosphorus with relative atomic mass 30.973762 and nuclear spin (1)/2.


name: Parkinson disease 18, autosomal dominant, susceptibility to

description: Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.


psoriasis 1, susceptibility to

description: Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene.


Abnormal Epithelial Cell

category: biolink:Cell biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: An epithelial cell that occurs in human disease or in models of human disease.


type 1 diabetes mellitus 13

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34.


name: hypertension, essential, susceptibility to, 6


ion

A molecular entity having a net electric charge.


monovalent inorganic anion

Any inorganic anion with a valency of one.


hydroxyazanide

An inorganic anion that is the conjugate base of hydroxylamine, arising from deprotonation of the amino function.


trivalent inorganic anion

Any inorganic anion with a valency of three.


polyatomic ion

An ion consisting of more than one atom.


divalent inorganic anion

Any inorganic anion with a valency of two.


name: microvascular complications of diabetes, susceptibility to, 5

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene.


type 1 diabetes mellitus 2

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene.


name: microvascular complications of diabetes, susceptibility to, 6

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene.


The radioactive isotope of thallium with relative atomic mass 200.9708 and half-life of 72.912 hours.


livermorium atom

A chalcogen atom with a symbol Lv and atomic number 116.


The stable isotope of thallium with relative atomic mass 202.9723. The least abundant (29.524 atom percent) isotope of naturally occurring thallium.


name: Mycobacterium tuberculosis, susceptibility to, 1


name: Mycobacterium tuberculosis, susceptibility to, 2


name: Mycobacterium tuberculosis, susceptibility to, X-linked


name: Mycobacterium tuberculosis, susceptibility to, 3


sarcoidosis, susceptibility to, 1

description: Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.


name: coronary heart disease, susceptibility to, 5

description: Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene.


iron-57 atom

The stable isotope of iron with relative atomic mass 56.935399, 2.1 atom percent natural abundance and nuclear spin 1/2.


name: multiple sclerosis, susceptibility to, 4


metalloid atom

An atom of an element that exhibits properties that are between those of metals and nonmetals, or that has a mixture of them. The term generally includes boron, silicon, germanium, arsenic, antimony, and tellurium, while carbon, aluminium, selenium, polonium, and astatine are less commonly included.


arsenic-75 atom

A stable isotope of arsenic with relative atomic mass 74.921596, 100 atom percent natural abundance and nuclear spin 3/2.


name: migraine with or without aura, susceptibility to, 6


name: migraine with or without aura, susceptibility to

description: An inherited susceptibility or predisposition to developing migraines with or without aura.


name: migraine with or without aura, susceptibility to, 3


name: migraine with aura, susceptibility to, 7


name: migraine with or without aura, susceptibility to, 10


name: migraine with or without aura, susceptibility to, 1


name: migraine with or without aura, susceptibility to, 12


name: migraine without aura, susceptibility to, 4

description: An inherited susceptibility or predisposition to developing migraines without aura.


name: migraine, familial typical, susceptibility to, 2


name: basal cell carcinoma, susceptibility to, 3


name: restless legs syndrome, susceptibility to, 4


name: Hirschsprung disease, susceptibility to, 9


Hirschsprung disease, susceptibility to

description: An inherited susceptibility or predisposition to developing Hirschsprung disease.


name: Hirschsprung disease, susceptibility to, 2

description: An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene.


name: Hirschsprung disease, susceptibility to, 1

description: An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene.


name: Hirschsprung disease, susceptibility to, 4

description: An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.


name: herpes simplex encephalitis, susceptibility to, 1

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene.


name: herpes simplex encephalitis, susceptibility to, 4

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene.


name: efavirenz central nervous system toxicity, susceptibility to


name: hypertension, essential, susceptibility to, 7


type 1 diabetes mellitus 18

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1.


name: pelvic organ prolapse, susceptibility to


name: scoliosis, isolated, susceptibility to, 5


name: susceptibility to localized juvenile periodontitis


name: epilepsy, juvenile myoclonic, susceptibility to, 10


name: systemic lupus erythematosus, susceptibility to, 7


name: hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection


name: predisposition to invasive fungal disease due to CARD9 deficiency


name: epidermodysplasia verruciformis, susceptibility to, 2


name: attention deficit-hyperactivity disorder, susceptibility to, 6


osteoarthritis susceptibility 1

description: Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene.


name: asthma, aspirin-induced, susceptibility to


name: susceptibility to angioedema induced by ACE inhibitors

description: An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema.


name: hypertension, essential, susceptibility to, 5


psoriatic arthritis, susceptibility to

description: An inherited susceptibility or predisposition to developing psoriatic arthritis.


name: attention deficit-hyperactivity disorder, susceptibility to, 7


name: age related macular degeneration, susceptibility to

description: An inherited susceptibility or predisposition to developing age related macular degeneration.


name: hemorrhage, intracerebral, susceptibility to

description: An inherited susceptibility or predisposition to developing intracerebral hemorrhage.


name: hypertension, essential, susceptibility to, 3


name: epilepsy, idiopathic generalized, susceptibility to, 10

description: An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene.


name: microvascular complications of diabetes, susceptibility


type 1 diabetes mellitus 11

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31.


name: asthma-related traits, susceptibility to, 3


name: systemic lupus erythematosus, susceptibility to, 5


name: breast-ovarian cancer, familial, susceptibility to, 5


name: thyrotoxic periodic paralysis, susceptibility to, 1

description: Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene.


name: psoriasis 15, pustular, susceptibility to

description: Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene.


name: microvascular complications of diabetes, susceptibility to, 2

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene.


name: epilepsy, childhood absence, susceptibility to, 5

description: Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.


name: scoliosis, isolated, susceptibility to, 1


name: Ascaris lumbricoides infection, susceptibility to


name: X-linked Mendelian susceptibility to mycobacterial diseases

description: A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males.


name: systemic lupus erythematosus, susceptibility to, 11

description: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene.


name: breast-ovarian cancer, familial, susceptibility to


name: pregnancy loss, recurrent, susceptibility to, 3

description: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene.


name: autoimmune disease, susceptibility to, 5


name: nephrolithiasis, uric acid, susceptibility to


type 1 diabetes mellitus 4

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13.


type 1 diabetes mellitus 3

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26.


type 1 diabetes mellitus 7

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31.


type 1 diabetes mellitus 10

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene.


name: amyotrophic lateral sclerosis, susceptibility to, 25


name: multiple sclerosis, susceptibility to, 3


name: systemic lupus erythematosus with nephritis, susceptibility to, 2


name: herpes simplex encephalitis, susceptibility to, 3

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene.


type 1 diabetes mellitus 21

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25.


type 1 diabetes mellitus 20

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.


name: basal cell carcinoma, susceptibility to, 5


name: dengue hemorrhagic fever, susceptibility to


name: restless legs syndrome, susceptibility to

description: An inherited susceptibility or predisposition to developing restless legs syndrome.


name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

description: Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.


name: sick sinus syndrome 3, susceptibility to

description: Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene.


name: epilepsy, idiopathic generalized, susceptibility to, 1


name: asthma-related traits, susceptibility to, 4


name: dengue shock syndrome, susceptibility to


name: atrioventricular septal defect, susceptibility to, 2

description: Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.


name: pelvic organ prolapse, susceptibility to, 1


schizophrenia 6

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21.


name: systemic lupus erythematosus, susceptibility to, 1

description: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene.


name: restless legs syndrome, susceptibility to, 3


name: microvascular complications of diabetes, susceptibility to, 3

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene.


name: autoimmune disease, susceptibility to, 1

description: Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.


name: thyrotoxic periodic paralysis, susceptibility to, 3


name: Parkinson disease 5, autosomal dominant, susceptibility to

description: An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.


name: systemic lupus erythematosus, susceptibility to, 10

description: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene.


type 1 diabetes mellitus 23

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27.


leprosy, susceptibility to, 4

description: Any leprosy in which the cause of the disease is a mutation in the LTA gene.


name: peripartum cardiomyopathy, susceptibility to


name: autoimmune thyroid disease, susceptibility to, 3


name: epilepsy, childhood absence, susceptibility to, 1


name: asthma-related traits, susceptibility to, 5

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene.


name: radioulnar synostosis, nonsyndromic, susceptibility to

description: A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene.


name: inherited susceptibility to mycobacterial diseases

description: A rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.


name: pulmonary hypertension, neonatal, susceptibility to


Asperger syndrome, susceptibility to

description: An inherited susceptibility or predisposition to developing Asperger sydrome.


name: spondyloarthropathy, susceptibility to, 1

description: Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene.


name: restless legs syndrome, susceptibility to, 8


name: vitiligo-associated multiple autoimmune disease susceptibility 1


celiac disease, susceptibility to, 3

description: Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene.


exfoliation syndrome, susceptibility to

description: An inherited susceptibility or predisposition to developing exfoliation syndrome.


hyperlipidemia, combined, 1

description: An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene.


name: fatty liver disease, nonalcoholic, susceptibility to, 2


name: restless legs syndrome, susceptibility to, 6


name: UV-induced skin damage, susceptibility to


name: autoimmune disease, susceptibility to, 6

description: Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene.


name: breast-ovarian cancer, familial, susceptibility to, 3

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.


name: Helicobacter pylori infection, susceptibility to


name: systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1


name: hepatitis, fulminant viral, susceptibility to


name: myocardial infarction, susceptibility to


name: epilepsy, idiopathic generalized, susceptibility to, 4


name: multicentric Castleman disease, susceptibility to


name: hyperemesis gravidarum, susceptibility to


name: systemic lupus erythematosus, susceptibility to, 15


name: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

description: Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.


name: epidermodysplasia verruciformis, susceptibility to, 3


name: attention deficit-hyperactivity disorder, susceptibility to, 1


name: bleeding disorder, platelet-type, 13, susceptibility to


craniosynostosis 5, susceptibility to

description: Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene.


name: hemolytic uremic syndrome, atypical, susceptibility to, 1


schizophrenia, susceptibility to

description: An inherited susceptibility or predisposition to developing schizophrenia.


name: Mendelian susceptibility to mycobacterial diseases due to a partial deficiency


schizophrenia 13

description: A schizophrenia that has material basis in a mutation on chromosome 15q13.


name: delayed sleep phase syndrome, susceptibility to

description: An inherited susceptibility or predisposition to developing delayed sleep phase syndrome.


name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

description: Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).


name: autoimmune disease, susceptibility to, 3


name: nonarteritic anterior ischemic optic neuropathy, susceptibility to


name: scoliosis, isolated, susceptibility to, 3


name: coronary heart disease, susceptibility to, 9


name: intellectual developmental disorder with autism and macrocephaly


name: Graves disease, susceptibility to, X-linked 1


name: epilepsy, idiopathic generalized, susceptibility to, 7


name: epilepsy, idiopathic generalized, susceptibility to, 3


type 1 diabetes mellitus 17

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25.


name: restless legs syndrome, susceptibility to, 5


name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

description: Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.


name: lumbar disk herniation, susceptibility to


name: coronary heart disease, susceptibility to, 7

description: Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene.


name: systemic lupus erythematosus, susceptibility to, 4


allergic rhinitis, susceptibility to

description: An inherited susceptibility or predisposition to developing allergic rhinitis.


name: restless legs syndrome, susceptibility to, 2


name: epilepsy, idiopathic generalized, susceptibility to, 5


psoriasis, susceptibility to

description: An inherited susceptibility or predisposition to developing psoriasis.


name: restless legs syndrome, susceptibility to, 7


name: autoimmune thyroid disease, susceptibility to, 2


name: cardiomyopathy, familial hypertrophic, 4, susceptibility to


name: epidermodysplasia verruciformis, susceptibility to


name: attention deficit-hyperactivity disorder, susceptibility to, 2


name: basal cell carcinoma, susceptibility to, 2


name: diabetes mellitus, insulin-dependent, X-linked, susceptibility to


basal cell carcinoma, susceptibility to

description: An inherited susceptibility or predisposition to developing basal cell carcinoma.


name: epilepsy, idiopathic generalized, susceptibility to, 9

description: Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.


name: autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency


name: aortic aneurysm, familial thoracic 11, susceptibility to


name: coronary heart disease, susceptibility to, 3


name: systemic lupus erythematosus, susceptibility to, 9

description: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene.


osteoarthritis susceptibility 5

description: Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene.


autism, susceptibility to, X-linked 2

description: A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).


name: breast-ovarian cancer, familial, susceptibility to, 4

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.


type 1 diabetes mellitus 15

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21.


name: epilepsy, idiopathic generalized, susceptibility to, 14


name: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

description: A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).


name: coronary artery disease, severe, susceptibility to


name: focal segmental glomerulosclerosis 4, susceptibility to

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.


name: pregnancy loss, recurrent, susceptibility


leprosy, susceptibility to, 3

description: Any leprosy in which the cause of the disease is a mutation in the TLR2 gene.


name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

description: Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).


name: attention deficit-hyperactivity disorder, susceptibility to, 4


name: microvascular complications of diabetes, susceptibility to, 4

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene.


orofacial cleft 6, susceptibility to

description: Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.


celiac disease, susceptibility to, 4

description: Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene.


name: asthma-related traits, susceptibility to, 2

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene.


type 1 diabetes mellitus 22

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene.


name: autoimmune thyroid disease, susceptibility to


name: asthma-related traits, susceptibility to, 1

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene.


name: myoclonic epilepsy, juvenile, susceptibility to, 4


name: coronary heart disease, susceptibility to, 8


name: asthma-related traits, susceptibility to, 7

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene.


name: hydrocephalus, congenital, 5, susceptibility to


name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

description: A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).


name: hypertension, essential, susceptibility to, 1


name: scoliosis, isolated, susceptibility to, 4


type 1 diabetes mellitus 1

description: An inherited susceptibility or predisposition to developing 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3.


name: pelvic organ prolapse, susceptibility to, 2


name: Mendelian susceptibility to mycobacterial diseases due to a complete deficiency


name: hypertension, essential, susceptibility to, 8


name: attention deficit-hyperactivity disorder, susceptibility to, 5


schizophrenia 14

description: A schizophrenia that has material basis in a mutation on chromosome 2q32.1.


name: epilepsy, idiopathic generalized, susceptibility to, 12


name: epilepsy, juvenile myoclonic, susceptibility to, 6


name: pregnancy loss, recurrent, susceptibility to, 2

description: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene.


name: ventricular fibrillation during myocardial infarction, susceptibility to


type 1 diabetes mellitus 6

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21.


name: systemic lupus erythematosus, susceptibility to, 2


name: epilepsy, idiopathic generalized, susceptibility to, 8

description: Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene.


name: susceptibility to visceral leishmaniasis, 1


name: myocardial infarction, susceptibility to, 2


type 1 diabetes mellitus 24

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31.


name: myoclonic epilepsy, juvenile, susceptibility to, 1


name: pregnancy loss, recurrent, susceptibility to, 1

description: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene.


type 1 diabetes mellitus 8

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27.


name: vitiligo-associated multiple autoimmune disease susceptibility 6


name: asthma-related traits, susceptibility to, 6


name: systemic lupus erythematosus with nephritis, susceptibility to, 1


name: microvascular complications of diabetes, susceptibility to, 7

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene.


name: renal dysplasia, cystic, susceptibility to


name: Asperger syndrome, X-linked, susceptibility to, 1


name: basal cell carcinoma, susceptibility to, 1


name: urinary tract infections, recurrent, susceptibility to


name: autoimmune thyroid disease, susceptibility to, 5


name: herpes simplex encephalitis, susceptibility to, 7

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene.


potassium-39 atom

The stable isotope of potassium with relative atomic mass 38.963707, 93.3 atom percent natural abundance and nuclear spin 3/2.


mesoderm-derived structure

category: biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: An anatomical structure that develops (entirely or partially) from the mesoderm.


A synthetic radioactive isotope of chromium having a half-life of 27.7 days and decaying by electron capture with emission of gamma rays (0.32 MeV); it is used to label red blood cells for measurement of mass or volume, survival time, and sequestration studies, for the diagnosis of gastrointestinal bleeding, and to label platelets to study their survival.


aluminium-28 atom

The radioactive isotope of aluminium with relative atomic mass 27.981910 and half-life of 2.25 min.


nanostructure

A nanometre sized object.


nanotube

A nanometre sized tube composed of either organic or inorganic substances.


metal atom

An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity.


The radioactive isotope of thallium with relative atomic mass 198.9698 and half-life of 7.42 hours.


macrocycle

A cyclic compound containing nine or more atoms as part of the cyclic system.


chemical entity

A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances.


main group molecular entity

A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table.


The stable isotope of thallium with relative atomic mass 204.9744. The most abundant (70.476 atom percent) isotope of naturally occurring thallium.


cyclic compound

Any molecule that consists of a series of atoms joined together to form a ring.


magnesium-25 atom

The stable isotope of magnesium with relative atomic mass 24.985837, 10.0 atom percent natural abundance and nuclear spin 5/2.


tin-116 atom

The stable isotope of tin with relative atomic mass 115.901747 and 14.54 atom percent natural abundance.


chemical substance

A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types.


polyatomic entity

Any molecular entity consisting of more than one atom.


tin-118 atom

The stable isotope of tin with relative atomic mass 117.901609 and 24.22 atom percent natural abundance.


inorganic molecular entity

A molecular entity that contains no carbon.


alkali metal molecular entity

A molecular entity containing one or more atoms of an alkali metal.


atom

A chemical entity constituting the smallest component of an element having the chemical properties of the element.


isotopically modified compound

Any molecular entity in which the isotopic ratio of nuclides for at least one element deviates measurably from that occurring in nature. The term includes both isotopically substituted compounds (in which essentially all the molecules of the compound have only the indicated nuclide(s) at each designated position) and isotopically labeled compounds (a formal mixture of an isotopically unmodified compound with one or more analogous isotopically substituted compound(s).


ring assembly

Two or more cyclic systems (single rings or fused systems) which are directly joined to each other by double or single bonds are named ring assemblies when the number of such direct ring junctions is one less than the number of cyclic systems involved.


mineral nutrient

A mineral that is an inorganic nutrient which must be ingested and absorbed in adequate amounts to satisfy a wide range of essential metabolic and/or structural functions in the human body.


hydrated silica

A mineral comprised of silicon dioxide, with variable amounts of water in its formula.


rubidium-85 atom

A stable isotope of rubidium with relative atomic mass 84.91179, 72.17 atom percent natural abundance and nuclear spin 5/2.


pnictogen

Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth.


bicyclic compound

A molecule that features two fused rings.


mancude ring

Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds.


p-block element atom

Any main group element atom belonging to the p-block of the periodic table.


group

A defined linked collection of atoms or a single atom within a molecular entity.


molecule

Any polyatomic entity that is an electrically neutral entity consisting of more than one atom.


tin-117 atom

The stable isotope of tin with relative atomic mass 116.902956, 7.68 atom percent natural abundance and nuclear spin (1)/2.


organic group

Any substituent group or skeleton containing carbon.


transition element atom

An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell.


heterobicyclic compound

A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom.


organic iron compound

An iron compound with C-H bonds


metal allergen

Any metal which causes the onset of an allergic reaction.


name: 2-cyano-3-(3,5-dimethoxyphenyl)-2-[(3,5-dimethoxyphenyl)methyl]propanoic acid ethyl ester


s-block molecular entity

An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element.


alkaline earth molecular entity

An alkaline earth molecular entity is a molecular entity containing one or more atoms of an alkaline earth metal.


main group element atom

An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table.


tin-119 atom

The stable isotope of tin with relative atomic mass 118.903311, 8.59 atom percent natural abundance and nuclear spin (1)/2.


homocyclic compound

A cyclic compound having as ring members atoms of the same element only.


molecular entity

Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity.


aluminium-26 atom

The radioactive isotope of aluminium with relative atomic mass 25.986892 and half-life of 717,000 years.


name: Tumor cells, uncertain whether benign or malignant

description: Cells of, or derived from, a tumor.


Abnormal cell

description: An abnormal human cell type which can occur in either disease states or disease models.