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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 C12ORF57 on chromosome 12p13.31. (DO)
Synonyms:exact_synonym: 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: OMIM:218340
 xref: GARD:5688;   NCI:C148371;   ORDO:1777
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr27:36,844,292...36,882,274
Ensembl chr27:36,844,572...36,883,887
JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,102,728...37,114,084
Ensembl chr27:37,103,016...37,114,556
JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,104,683...38,118,957
Ensembl chr27:38,104,842...38,111,462
JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557
JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,934,946...37,947,579
Ensembl chr27:37,935,004...37,947,563
JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,976,196...37,985,846
Ensembl chr27:37,976,197...37,989,575
JBrowse link
G C27H12orf57 chromosome 27 C12orf57 homolog ISO OMIM NCBI chr27:38,101,705...38,103,553
Ensembl chr27:38,101,786...38,127,910
JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,431,745...37,439,858
Ensembl chr27:37,433,792...37,435,246
JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,172,717...38,174,963
Ensembl chr27:38,172,988...38,176,548
JBrowse link
G CLEC4A C-type lectin domain family 4, member A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,493,740...37,510,276 JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,879,047...37,913,317
Ensembl chr27:37,879,269...37,913,281
JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,069,089...38,075,577
Ensembl chr27:38,068,231...38,076,300
JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182
JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,412,148...37,430,861
Ensembl chr27:37,411,358...37,428,887
JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,125,845...37,129,567
Ensembl chr27:37,125,928...37,129,484
JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763
JBrowse link
G LOC100856280 developmental pluripotency-associated protein 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,114,192...37,196,434 JBrowse link
G LOC479821 acyl-coenzyme A synthetase ACSM4, mitochondrial-like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 6:24,616,607...24,639,441
Ensembl chr 6:24,616,610...24,639,255
JBrowse link
G LOC611536 C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,520,289...37,559,920
Ensembl chr27:37,551,064...37,558,847
JBrowse link
G LOC611538 C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,561,445...37,568,652
Ensembl chr27:37,563,038...37,568,463
JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,028,438...38,068,854
Ensembl chr27:38,028,120...38,068,502
JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,128,954...38,144,481
Ensembl chr27:38,129,203...38,134,676
JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,028,518...37,042,657
Ensembl chr27:37,028,037...37,040,592
JBrowse link
G MIR200C microRNA mir-200c ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,082,097...38,082,159
Ensembl chr27:38,082,091...38,082,169
JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,262,558...37,266,449 JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,225,807...37,229,457 JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,460,545...37,472,512
Ensembl chr27:37,460,607...37,507,052
JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,182,642...38,195,173
Ensembl chr27:38,182,856...38,194,902
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,843,218...37,860,664
Ensembl chr27:37,809,717...37,860,376
JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,075,769...38,080,440
Ensembl chr27:38,075,652...38,080,109
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,908,056...37,911,805
Ensembl chr27:37,908,067...37,911,516
JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:36,924,323...37,092,351
Ensembl chr27:36,931,987...36,993,355
JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:37,297,932...37,309,604
Ensembl chr27:37,297,932...37,428,410
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 chr27:38,134,855...38,154,520
Ensembl chr27:38,151,906...38,154,529
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137
JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr27:38,158,850...38,172,689
Ensembl chr27:38,158,834...38,172,071
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    syndrome 6140
      Temtamy syndrome 39
Path 2
Term Annotations click to browse term
  disease 12678
    Developmental Diseases 8956
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7816
        genetic disease 7363
          monogenic disease 5400
            autosomal genetic disease 4468
              autosomal recessive disease 2447
                Temtamy syndrome 39
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.