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osteoarthritis susceptibility 1
|
MIM_165720 |
|
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congenital disorder of glycosylation type IIq
|
DOID_0070269 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.] |
|
congenital disorder of glycosylation type IIn
|
DOID_0070266 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.] |
|
congenital disorder of glycosylation type IIo
|
DOID_0070267 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.] |
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hereditary nonpolyposis colorectal cancer type 4
|
DOID_0070275 |
[A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22.] |
|
Lynch syndrome
|
DOID_3883 |
[A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.] |
|
hereditary nonpolyposis colorectal cancer type 7
|
DOID_0070276 |
[A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3.] |
|
hereditary nonpolyposis colorectal cancer type 6
|
DOID_0070273 |
[A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.] |
|
hereditary nonpolyposis colorectal cancer type 2
|
DOID_0070274 |
[A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2.] |
|
Lynch syndrome 1
|
DOID_0070271 |
[A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.] |
|
hereditary nonpolyposis colorectal cancer type 5
|
DOID_0070272 |
[A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16.] |
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hereditary nonpolyposis colorectal cancer type 8
|
DOID_0070270 |
[A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.] |
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Streptophyta
|
NCBITaxon_35493 |
|
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Human betaherpesvirus 6
|
NCBITaxon_10368 |
|
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unclassified Roseolovirus
|
NCBITaxon_431037 |
|
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primary autosomal recessive microcephaly 14
|
DOID_0070279 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.] |
|
primary autosomal recessive microcephaly 15
|
DOID_0070277 |
[A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.] |
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primary autosomal recessive microcephaly 7
|
DOID_0070278 |
[A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33.] |
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primary coenzyme Q10 deficiency 5
|
DOID_0070242 |
[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.] |
|
coenzyme Q10 deficiency disease
|
DOID_0050730 |
[A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.] |
