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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Temtamy syndrome
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Accession:DOID:0111621 term browser browse the term
Definition:A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. (DO)
Synonyms:exact_synonym: C12ORF57-RELATED CONDITION;   Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation;   Dysmorphism, corpus callosum agenesis and colobomas;   TEMTYS;   Temtamy-Shalash syndrome;   craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome;   mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum
 primary_id: MESH:C536959
 alt_id: MIM:218340
 xref: GARD:5688;   NCI:C148371;   ORDO:1777


show annotations for term's descendants           Sort by:
Temtamy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,909,111...8,961,857
Ensembl chr12:9,122,447...9,192,371 		JBrowse link
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,768,971...6,778,613
Ensembl chr12:6,685,963...6,695,344 		JBrowse link
G ACSM4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,448,372...7,474,634
Ensembl chr12:7,613,474...7,637,536 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,777,734...7,793,960
Ensembl chr12:7,939,262...7,944,203 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580 		JBrowse link
G C10H12orf57 chromosome 10 C12orf57 homolog ISO ClinVar Annotator: match by term: C12orf57-related condition | ClinVar Annotator: match by term: Temtamy syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21937992 PMID:23453665 More... NCBI chr12:7,073,251...7,075,408
Ensembl chr12:6,978,576...6,990,580 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,224,675...7,239,524
Ensembl chr12:7,139,094...7,155,196 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,178,064...8,186,206
Ensembl chr12:8,220,933...8,222,381 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G CD163L1 CD163 molecule like 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,497,261...7,590,057
Ensembl chr12:7,656,113...7,749,646 		JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,575,104...6,582,127
Ensembl chr12:6,492,119...6,499,427 		JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204 		JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,980,656...6,983,796
Ensembl chr12:6,890,095...6,895,364 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076 		JBrowse link
G CLEC4A C-type lectin domain family 4 member A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,242,240...8,257,860
Ensembl chr12:8,285,174...8,300,029 		JBrowse link
G CLEC4C C-type lectin domain family 4 member C ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,852,796...7,873,559
Ensembl chr12:8,012,508...8,030,370 		JBrowse link
G CLEC4D C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,599,654...8,608,494
Ensembl chr12:8,814,680...8,823,484 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,620,618...8,627,610 JBrowse link
G CLEC6A C-type lectin domain containing 6A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,537,766...8,560,736
Ensembl chr12:8,752,778...8,775,738 		JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,260,361...7,288,903
Ensembl chr12:7,175,951...7,204,526 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,856,119...6,863,999
Ensembl chr12:6,770,675...6,778,199 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,834,298...7,841,064 JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,102,619...7,108,594
Ensembl chr12:7,018,291...7,023,807 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342 		JBrowse link
G FAM90A1 family with sequence similarity 90 member A1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,343,013...8,346,624 JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,152,037...8,175,291
Ensembl chr12:8,194,519...8,217,778 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815 		JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692 		JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,952,556...6,958,414
Ensembl chr12:6,864,927...6,870,797 		JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,670,415...6,686,972
Ensembl chr12:6,588,975...6,605,262 		JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,782,402...6,795,035
Ensembl chr12:6,698,843...6,710,955 		JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,903,770...6,909,778
Ensembl chr12:6,817,507...6,823,047 		JBrowse link
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,749,957...6,767,221
Ensembl chr12:6,668,991...6,670,109 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,107,925...7,149,982
Ensembl chr12:7,024,015...7,065,945 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,033,989...7,043,704
Ensembl chr12:6,948,809...6,958,880 		JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,514,432...6,521,966
Ensembl chr12:6,422,470...6,438,510 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,731,893...8,746,850
Ensembl chr12:8,944,872...8,961,876 		JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,879,347...6,898,785
Ensembl chr12:6,793,045...6,798,715 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,622,334...6,623,502
Ensembl chr12:6,539,516...6,540,959 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,913,037...7,919,715 JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,888,876...7,897,769 JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,623,568...6,662,741
Ensembl chr12:6,540,750...6,580,206 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,201,908...8,217,043
Ensembl chr12:8,243,785...8,282,647 		JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,687,763...6,699,234
Ensembl chr12:6,606,036...6,617,260 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,960,193...6,971,691
Ensembl chr12:6,872,035...6,883,187 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,097,073...7,102,474
Ensembl chr12:7,013,195...7,018,053 		JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,824,377...6,832,971
Ensembl chr12:6,742,251...6,748,741 		JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,897,502...6,902,257
Ensembl chr12:6,814,264...6,815,101 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830 		JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,253,922...7,261,145
Ensembl chr12:7,169,592...7,175,800 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,752,509...8,869,226
Ensembl chr12:8,999,423...9,077,179 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,475,723...6,506,443 JBrowse link
G SLC2A14 solute carrier family 2 member 14 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,936,348...8,014,318
Ensembl chr12:8,094,327...8,113,460 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,045,058...8,062,116
Ensembl chr12:8,408,457...8,423,466 		JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612 		JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,983,941...6,998,469
Ensembl chr12:6,895,416...6,909,936 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,592,688...6,601,317
Ensembl chr12:6,509,762...6,518,459 		JBrowse link
G ZNF384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,798,264...6,821,705
Ensembl chr12:6,714,248...6,738,018 		JBrowse link
G ZNF705A zinc finger protein 705A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 8:11,570,038...11,577,621 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    syndrome 10733
      Temtamy syndrome 66
Path 2
Term Annotations click to browse term
  disease 15838
    Pathological Conditions, Signs and Symptoms 12335
      Signs and Symptoms 10385
        Neurologic Manifestations 10066
          sensory system disease 7061
            eye disease 3627
              Eye Abnormalities 807
                coloboma 135
                  Temtamy syndrome 66
paths to the root