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: chromosome 16p11.2 duplication syndrome
Accession: DOID:0060430
browse the term
Definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. (DO)
Synonyms: exact_synonym: proximal 16p11.2 microduplication syndrome; proximal dup(16)(p11.2); proximal trisomy 16p11.2
primary_id: OMIM:614671
xref: ORDO:370079
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ALDOA
aldolase, fructose-bisphosphate A
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,077,241...18,083,053
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ASPHD1
aspartate beta-hydroxylase domain containing 1
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,941,306...17,945,594
Ensembl chr 6:17,941,574...17,945,217
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C6H16orf54
chromosome 6 C16orf54 homolog
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,811,506...17,815,122
Ensembl chr 6:17,812,667...17,853,083
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C6H16orf92
chromosome 6 C16orf92 homolog
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126
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CDIPT
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,910,141...17,914,573
Ensembl chr 6:17,910,192...17,914,653
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CORO1A
coronin 1A
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818
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DOC2A
double C2 domain alpha
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,041,551...18,046,779
Ensembl chr 6:18,041,296...18,046,265
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GDPD3
glycerophosphodiester phosphodiesterase domain containing 3
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533
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HIRIP3
HIRA interacting protein 3
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,030,070...18,032,774
Ensembl chr 6:18,030,074...18,032,730
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INO80E
INO80 complex subunit E
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,033,366...18,041,604
Ensembl chr 6:18,033,363...18,041,308
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KCTD13
potassium channel tetramerization domain containing 13
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,945,541...17,959,421
Ensembl chr 6:17,946,062...17,959,232
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KIF22
kinesin family member 22
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,853,190...17,865,386
Ensembl chr 6:17,853,149...17,865,386
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LOC102157295
atherin
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,069,839...18,077,265
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MAPK3
mitogen-activated protein kinase 3
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
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MAZ
MYC associated zinc finger protein
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,867,491...17,870,108
Ensembl chr 6:17,867,488...17,870,197
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MVP
major vault protein
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184
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PAGR1
PAXIP1 associated glutamate rich protein 1
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,876,740...17,879,546
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PPP4C
protein phosphatase 4 catalytic subunit
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854
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PRRT2
proline rich transmembrane protein 2
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184
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QPRT
quinolinate phosphoribosyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,778,664...17,794,110
Ensembl chr 6:17,779,439...17,794,035
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SEZ6L2
seizure related 6 homolog like 2
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,920,413...17,938,382
Ensembl chr 6:17,921,311...17,945,738
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SPN
sialophorin
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,770,303...17,774,946
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TAOK2
TAO kinase 2
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,014,685...18,029,188
Ensembl chr 6:18,000,138...18,029,185
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TBX6
T-box transcription factor 6
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636
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TLCD3B
TLC domain containing 3B
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,053,841...18,062,755
Ensembl chr 6:18,054,632...18,055,914
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TMEM219
transmembrane protein 219
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,959,490...18,014,813
Ensembl chr 6:18,000,138...18,029,185
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YPEL3
yippee like 3
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068
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ZG16
zymogen granule protein 16
ISO
ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome
ClinVar
PMID:31690835
NCBI chr 6:17,840,430...17,842,008
Ensembl chr 6:17,839,553...17,842,006
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