Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways

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
go back to main search page
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 Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:159,537,391...159,550,454
JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:183,485,259...183,509,712
JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:157,472,868...157,498,909
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:159,237,562...159,254,418
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:159,080,495...159,097,066
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323
JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:159,716,935...159,721,823
JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461
JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:159,321,014...159,325,068
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:159,584,654...159,617,866
JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,845,811...157,857,926
Ensembl chr 4:157,845,752...157,858,273
JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,885,899...157,896,728
Ensembl chr 4:157,885,895...157,896,727
JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,148,434...158,171,933
Ensembl chr 4:158,148,314...158,172,249
JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,275,287...158,286,978
Ensembl chr 4:158,275,341...158,287,055
JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,292,624...158,298,607
Ensembl chr 4:158,293,311...158,298,467
JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:158,225,099...158,244,295
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:159,017,795...159,051,069
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,452,878...159,478,878
Ensembl chr 4:159,452,897...159,460,315
JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,851,461...155,854,845
Ensembl chr 5:93,143,318...93,144,472
Ensembl chr 4:93,143,318...93,144,472
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:159,195,564...159,203,826
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:159,258,371...159,267,220
JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr16:70,098,439...70,106,147 JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,718,990...157,745,468
Ensembl chr 4:157,718,992...157,745,450
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:159,648,592...159,653,377
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:157,502,884...157,507,907
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:159,325,742...159,331,445
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,348,465...159,354,577
Ensembl chr 4:159,348,303...159,354,390
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: C12orf57-related condition | ClinVar Annotator: match by term: Temtamy syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21937992 PMID:23453665 More... NCBI chr 4:159,237,562...159,239,223 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,631,309...159,648,531
Ensembl chr 4:159,630,763...159,648,527
JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,528,183...159,536,762
Ensembl chr 4:159,528,189...159,536,761
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,398,930...159,407,001
Ensembl chr 4:159,398,932...159,406,669
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:159,554,805...159,571,894
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,154,690...159,196,176
Ensembl chr 4:159,154,158...159,196,358
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:159,267,574...159,277,794
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,795,115...159,801,571
Ensembl chr 4:159,795,115...159,807,296
JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:157,395,597...157,422,448
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332 JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,209,965...159,210,033 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:159,411,732...159,430,571
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:159,677,827...159,681,641
JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:157,615,687...157,623,061
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,655,051...159,677,938
Ensembl chr 4:159,655,051...159,677,938
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,775,890...157,790,992
Ensembl chr 4:157,775,896...157,790,984
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,618,894...159,630,697
Ensembl chr 4:159,618,966...159,630,697
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:159,332,434...159,348,004
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,203,948...159,208,561
Ensembl chr 4:159,203,926...159,209,231
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:159,482,648...159,491,083
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,408,647...159,412,837
Ensembl chr 4:159,408,649...159,415,212
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069
JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,336,950...157,396,970
Ensembl chr 4:157,344,414...157,378,727
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:157,632,887...157,646,186
JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:159,299,159...159,309,021
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,707,686...159,715,137
Ensembl chr 4:159,708,511...159,715,137
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,305,927...159,321,345
Ensembl chr 4:159,305,938...159,320,956
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:159,698,629...159,713,608
JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,496,481...159,526,010
Ensembl chr 4:159,496,729...159,526,010
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Temtamy syndrome 64
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              Eye Abnormalities 608
                coloboma 133
                  Temtamy syndrome 64
paths to the root