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
Accession: DOID:0111621
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:23453666 PMID:23633300 PMID:24798461 PMID:25326635 PMID:25558065 PMID:25741868 PMID:28097321 PMID:28454995 PMID:28492532 PMID:28600779 PMID:29269699 PMID:29383837 More...
NCBI chr 4:159,237,562...159,239,223
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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
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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
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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
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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
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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
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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
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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
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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
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Mir141
microRNA 141
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:157,523,239...157,523,332
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Mir200c
microRNA 200c
ISO
ClinVar Annotator: match by term: Temtamy syndrome
ClinVar
PMID:28492532
NCBI chr 4:159,209,965...159,210,033
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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